日本臨牀　別冊　内分泌症候群（第3版）III

出版社： 日本臨牀社
発行日： 2019-01-31
分野： 臨床医学：一般  >  雑誌
雑誌名：
特集： 内分泌症候群（第3版）III―その他の内分泌疾患を含めて―
電子書籍版： 2019-01-31 （第3版第1刷）
書籍・雑誌
≪全国送料無料でお届け≫
取寄せ目安：8～14営業日

18,700 円(税込)

購入する
電子書籍
章別単位で購入
ブラウザ、アプリ閲覧

18,700 円(税込)

購入する

目次

  • V．男性性機能
    １．性腺機能低下症
    　（１）続発性性腺機能低下症 髙田　晋吾 5
    　（２）Kallmann症候群 佐藤　直子 10
    　（３）低ゴナドトロピン性性腺機能低下症を伴う小脳運動失調症 東條　克能 20
    　（４）Prader-Willi症候群 村上　信行 24
    　（５）Laurence-Moon-Biedl 症侯群 千葉　公嗣 29
    　（６）性腺機能低下症[原発性，続発性] 小堀　善友 32
    　（７）Sertoli cell-only症候群 高　　栄哲 37
    　（８）LHβ-サブユニットの構造異常による性腺機能低下症 白石　晃司 41
    　（９）正常ゴナドトロピン性精子形成障害(特発性精子形成障害) 深堀　能立 45
    ２．造精機能，精子輸送，性機能障害による男性不妊症
    　（１）Young症候群 三田　耕司 49
    　（２）自己免疫性男性不妊 岡田　桂輔 53
    　（３）精細管不全症 髙田　晋吾 57
    　（４）精索静脈瘤 六車　光英 60
    　（５）生殖細胞無形成症 小島　聡子 63
    　（６）男性不妊症 白石 　晃司 67
    　（７）勃起障害・射精障害 田村　公嗣 71
    　（８）AZFの異常 高　　栄哲 75
    　（9）原発性線毛機能不全、Kartagener症候群 白石　晃司 79
    ３．精巣腫瘍・精巣炎
    　（１）精巣腫瘍(胚細胞腫瘍，Leydig細胞腫，Sertoli細胞腫) 川喜田睦司 83
    　（２）精巣炎 湯村　　寧 94
    ４．その他
    　（１）女性化症候群 林　祐太郎 97
    　（２）女性化乳房 蘆田　健二 102
    　（３）薬剤誘発性アンドロゲン産生異常症 押野見和彦 108
    　（４）薬剤誘発性性腺機能低下症 方波見卓行 113
    　（５）薬剤性造精機能障害 朝倉　博孝 118
    　（６）精巣機能亢進症 梅本　幸裕 124
    VI．女性性機能
    １．性腺機能低下症
    　（１）視床下部性性腺機能低下症 藤澤　泰子 131
    　（２）卵巣機能低下症 河村　和弘 135
    　（３）自己免疫性卵巣不全 加藤　剛志 139
    　（４）早発卵巣不全 石塚　文平 143
    　（５）無排卵症(無排卵性月経) 黒澤　大樹 153
    ２．卵巣腫瘍
    　（１）機能性卵巣腫瘍 宮﨑　順秀 158
    　（２）家族性卵巣がん 小林　佑介 162
    　（３）ホルモン産生卵巣腫瘍 笹　　秀典 167
    ３．月経異常症
    　（１）原発性無月経 齋藤　　真 172
    　（２）続発性無月経 綾部　琢哉 176
    　（３）月経前症候群 小川真里子 181
    　（４）機能性子宮出血 竹林　明枝 188
    　（５）過多月経 中山 健太郎 192
    　（６）月経困難症 谷口　文紀 197
    　（７）乳汁漏出無月経症候群 田村　　功 202
    　（８）多嚢胞性卵巣症候群 岩下　光利 207
    　（９）多毛症 沖　　利通 211
    ４．不妊・不育
    　（１）Asherman症候群 逸見　博文 218
    　（２）不育症 中尾　朋子 222
    　（３）女性不妊症 安達　知子 228
    　（４）卵巣過剰刺激症候群 左　　勝則 233
    ５．その他
    　（１）DES症候群 堤　　　治 239
    　（２）更年期障害 高松　　潔 243
    　（３）子宮内胎児発育不全 真木晋太郎 252
    　（４）絨毛性疾患 井箟　一彦 257
    　（５）乳汁漏出症 千石　一雄 262
    　（６）閉経後性器出血 谷口　文紀 267
    　（７）卵巣レムナント症候群 伏木　　弘 270
    　（８）子宮内膜症 北脇　　城 274
    　（９）子宮筋腫 丸山　哲夫 279
    Ⅶ．性分化，発育
    １．性腺分化の異常
    　（１）Klinefelter症候群 木内　　寛 289
    　（２）Turner症候群 勝又　規行 294
    　（３）性腺形成不全 柴田　浩憲 298
    　（４）Denys-Drash症候群 西　健太郎 302
    　（５）Frasier症候群 薮内　智朗 306
    　（６）Noonan症候群 緒方　　勤 310
    　（７）卵精巣性性分化疾患 白石　晃司 315
    　（８） 46,XY pure gonadal dysgenesis 堤　　　治 319
    　（９）46,XX 精巣性性分化疾患 山崎　一恭 324
    　（10）XXX症候群 大橋　博文 328
    　（11）XYY症候群 伊藤　直樹 332
    　（12）Y染色体構造異常 井本　逸勢 334
    　（13）外因性ホルモン、内分泌撹乱物質による性分化疾患　 大山　建司 339
    　（14）45,X/46,XY mosaicismと混合性性腺異形成 守屋　仁彦 344
    　（15）索状性腺症候群・片側性索状性腺症候群 松本　富美 348
    　（16）ライディッヒ細胞低(無)形成症 嶋谷　公宏 351
    ２．46,XX性分化疾患
    　（１）46,XX性分化疾患 寺尾　泰久 354
    　（２）アロマターゼ欠損症 生水真紀夫 358
    　（３）副腎性器症候群 田島　敏広 364
    ３．46,XY性分化疾患
    　（１）46,XY性分化疾患 兼松　明弘 367
    　（２）17α-水酸化酵素/17,20リアーゼ欠損症 柳瀬　敏彦 372
    　（３）17βヒドロキシステロイド・デヒドロゲナーゼ3型欠損症 深見　真紀 377
    　（4）Reifenstein症候群 押野見和彦 382
    　（5）アンドロゲン不応症 位田　　忍 386
    　（6）5α-還元酵素欠損症 東田　　章 391
    ４．その他
    　（１）外性器異常 中村美智子 395
    　（２）染色体異常を伴う停留精巣(Edwards，Patau，Lowe症候群) 河村　秀樹 399
    　（３）傍中腎管遺残症 松井　　太 403
    　（４）尿道下裂と類縁疾患 守屋　仁彦 408
    　（５）ミュラー管低（無）形成、形成異常 野﨑　綾子 412
    　（６）ウォルフ管形成異常 塩見　真由 418
    　（７）(短)小陰茎、埋没陰茎 吉野　　薫 422
    　（８）テストトキシコーシス(家族性男性思春期早発症） 小笠原敦子 427
    　（９）精巣消失症候群および精巣退縮症候群 惣田　哲次 433
    　（10）性成熟異常症(思春期早発症・思春期遅発症) 田中　敏章 436
    　（11）性同一性障害 舛森　直哉 441
    　（12）手・足・性器症候群 三渕　　浩 446
    　（13）Rokitansky症候群

この書籍の参考文献

参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

V 男性性機能

P.9 掲載の参考文献
1) Valdes-Socin H, et al : Reproduction, smell, and neurodevelopmental disorders : genetic defects in different hypogonadotropic hypogonadal syndromes. Front Endocrinol (Lausanne) 5 : 109, 2014.
PubMed
2) Miyagawa Y, et al : Outcome of gonadotropin therapy for male hypogonadotropic hypogonadism at university affiliated male infertility centers : a 30-year retrospective study. J Urol 173 : 2072-2075, 2005.
 
3) Kallmann FJ, et al : The genetic aspects of primary eunuchoidism. Am J Ment Defic 48 : 203-236, 1944.
 
4) Legouis R, et al : The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67 : 423-435, 1991.
PubMed
5) Dode C, et al : Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33 : 463-465, 2003.
PubMed
6) Soules MR, Hammond CB : Female Kallmann's syndrome : evidence for a hypothalamic luteinizing hormone-releasing hormone deficiency. Fertil Steril 33 : 82-85, 1980.
PubMed
7) de Roux N, et al : Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci USA 100 : 10972-10976, 2003.
PubMed
8) Aparicio SA : Kisspeptins and GPR54-the new biology of the mammalian GnRH axis. Cell Metabo 1 : 293-296, 2005.
 
9) 高田晋吾, ほか : 男性性機能障害に対する内分泌検査の進め方. 内科 85 : 46-49, 2000.
 
P.19 掲載の参考文献
1) Balasubramanian R, et al : Human GnRH deficiency : a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology 92 : 81-99, 2010.
PubMed
2) Topaloglu AK : Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. J Clin Res Pediatr Endocrinol 9 : 113-122, 2017.
PubMed
3) Boehm U, et al : Expert consensus document : European consensus statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment. Nat. Rev. Endocrinol 11 : 547-564, 2015.
PubMed
4) Stamou MI, et al : Kallmann syndrome : phenotype and genotype of hypogonadotropic hypogonadism. Metab Clin Exp 86 : 124-134, 2018.
PubMed
5) Miraoui H, et al : Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet 92 : 725-743, 2013.
PubMed
6) Valdes-Socin H, et al : Reproduction, smell, and neurodevelopmental disorders : genetic defects in different hypogonadotropic hypogonadal syndromes. Front Endocrinol (Lausanne) 5 : 109, 2014.
PubMed
7) Sato N, et al : The usefulness of GnRH and hCG testing for the differential diagnosis of delayed puberty and hypogonadotropic hypogonadism in prepubertal boys. Jpn J Reprod Endocrinol 8 : 49-53, 2003.
 
8) 厚生労働科学研究費補助金難治性疾患克服研究事業 間脳下垂体機能障害に関する調査研究班 「ゴナドトロピン分泌低下症の診断と治療の手引き」 (平成22年度改訂), 2011.
 
9) Kobori Y, et al ; MHH Study Group : Investigation of treatment for azoospermia due to male hypogonadotropic hypogonadism in Japan. Int J Urol, 2018. [Epub ahead of print]
 
10) Sato N, et al : Treatment situation of male hypogonadotropic hypogonadism in pediatrics and proposal of testosterone and gonadotropins replacement therapy protocols. Clin Pediatr Endocrinol 24 : 37-49, 2015.
 
11) Dwyer AA, et al : Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab 98 : E1790-1795, 2013.
PubMed
12) Sato N, et al : Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1 : report of three families : case report. Hum Reprod 20 : 2173-2178, 2005.
PubMed
13) 佐藤直子 : 低ゴナドトロピン性性腺機能低下症. 成人と小児で成因・診断・治療・予後は同じか. ホルモンと臨床 61 : 375-385, 2013.
 
P.23 掲載の参考文献
1) Manto M, Hampe CS : Endocrine disorders and the cerebellum : from neurodevelopmental injury to late-onset ataxia. Handb Clin Neurol 155 : 353-368, 2018.
PubMed
2) Holmes G : A form of familial degeneration of the cerebellum. Brain 30 : 466-489. 1907.
 
3) Boucher BJ, Gibberd FB : Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand 45 : 507-510, 1969.
PubMed
4) Neuhauser G, Opitz JM : Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet 7 : 426-434, 1975.
PubMed
5) Ichinose M, et al : Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia. Intern Med 34 : 18-23, 1995.
PubMed
6) Tojo K, et al : A new family of Boucher-Neuhauser syndrome : coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration : case reports and review of literature. Endocr J 42 : 367-376, 1995.
PubMed
7) Tarnutzer AA, et al : Boucher-Neuhauser syndrome : cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism : two novel cases and a review of 40 cases from the literature. J Neurol 262 : 194-202, 2015.
 
8) Margolin DH, et al : Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med 368 : 1992-2003, 2013.
PubMed
9) Synofzik M, et al : PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 137 : 69-77, 2014.
 
10) Rainier S, et al : Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 82 : 780-785, 2008.
PubMed
11) 高紀信, 瀧山嘉久 : Boucher-Neuhauser症候群の新規原因遺伝子PNPLA6. 神経内科 88 : 204-210, 2018.
 
12) van Tienhoven M, et al : Human neuropathy target esterase catalyzes hydrolysis of membrane lipids. J Biol Chem 277 : 20942-20948, 2002.
PubMed
13) Moser M, et al : Cloning and expression of the murine sws/NTE gene. Mech Dev 90 : 279-282, 2000.
PubMed
14) Topaloglu AK, et al : Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. J Clin Endocrinol Metab 99 : E2067-2075, 2014.
PubMed
15) Jbour AK, et al : Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils : a novel disorder or a new variant of Boucher-Neuhauser syndrome? J Med Genet 40 : e2. 2003.
PubMed
16) Umehara T, et al : Are hypersegmented neutrophils a characteristic of Boucher-Neuhauser syndrome? J Neurol Sci 295 : 128-130, 2010.
PubMed
P.28 掲載の参考文献
1) Cassidy SB : Prader-Willi syndrome. J Med Genet 34 : 917-923, 1997.
PubMed
2) Matsubara K, et al : Maternal age effect on the development of Prader-Willi syndrome resulting from upd (15) mat through meiosis 1 errors. J Hum Genet 56 : 566-571, 2011.
PubMed
3) Holm VA, et al : Prader-Willi syndrome : consensus diagnostic criteria. Pediatrics 91 : 398-402, 1993.
PubMed
4) Gunay-Aygun M, et al : The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108 : E92, 2001.
PubMed
5) Hirsch HJ, et al : Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. J Clin Endocrinol Metab 94 : 2262-2268, 2009.
 
6) Siemensma EP, et al : Testicular failure in boys with Prader-Willi syndrome : longitudinal studies of reproductive hormones. J Clin Endocrinol Metab 97 : E452-459, 2012.
PubMed
7) Eldar-Geva T, et al : Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood : variable combinations of a primary gonadal defect and hypothalamic dysfunction. Eur J Endocrinol 162 : 377-384, 2010.
PubMed
8) Siemensma EP, et al : Ovarian function and reproductive hormone levels in girls with Prader-Willi syndrome : a longitudinal study. J Clin Endocrinol Metab 97 : E1766-1773, 2012.
PubMed
9) Eiholzer U, et al : Hypothalamic and gonadal components of hypogonadisms in boys with Prader-Labhart Willi syndrome. J Clin Endocrinol Metab 91 : 892-898, 2006.
PubMed
10) Kido Y, et al : Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome : an observational study. Am J Med Genet A 161A : 2167-2173, 2013.
PubMed
11) Eldar-Geva T, et al : Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome. Am J Med Genet A 161A : 3030-3034, 2013.
PubMed
P.31 掲載の参考文献
1) Laurence JZ, Moon RC : Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfection of development. Ophthal Rev 2 : 32-41, 1866.
 
2) Laurence-Moon and Bardet-Biedl syndromes. Lancet 2 : 1178, 1988.
 
3) Green JS, et al : The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321 : 1002-1009, 1989.
PubMed
4) Klein D, Ammann F : The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 9 : 479-513, 1969.
PubMed
5) Beales PL, et al : Bardet-Biedl syndrome : amolecular and phenotypic study of 18 families. J Med Genet 34 : 92-98, 1997.
 
6) Farag TI, Teebi AS : Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet 33 : 78-82, 1988.
 
7) Moore SJ, et al : Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland : a 22-year prospective, population-based, cohort study. Am J Med Genet A 132A : 352-360, 2005.
PubMed
8) Beales PL, et al : New criteria for improved diagnosis of Bardet-Biedl syndrome : results of a population survey. J Med Genet 36 : 437-446, 1999.
PubMed
9) Bell J : The Laurence-Moon syndrome. In : The Treasury of Human Inheritance, Vol 5, Part 3 (ed by Penrose LS), p51-96, Cambridge University Press, Cambridge, 1958.
 
10) Forsythe E, et al : Managing Bardet-Biedl Syndrome-Now and in the Future. Front Pediatr 6 : 23, 2018. (doi : 10.3389/fped.2018.00023)
 
P.36 掲載の参考文献
1) 緒方勤, 田中敏章 : 低ゴナドトロピン性性腺機能不全 : 分子遺伝学的および臨床的側面. 日本生殖内分泌学会雑誌 11 : 11-16, 2006.
 
2) Nachtigall LB, et al : Adult-onset idiopathic hypogonadotropic hypogonadism-a treatable form of male infertility. N Engl J Med 336 : 410-415, 1997.
PubMed
3) Warne DW, et al : A combined analysis of data to identify predictive factors for spermatogenesis in men with hypogonadotropic hypogonadism treated with recombinant human follicle-stimulating hormone and human chorionic gonadotropin. Fertil Steril 92 : 594-604, 2009.
PubMed
4) Kobori Y, et al : Investigation of treatment for azoospermia due to male hypogonadotropic hypogonadism in Japan. Int J Urol, 2018. [Epub ahead of print]
 
5) Raivio T, et al : Reversal of idiopathic hypogonadotropic hypogonadism. N Engl J Med 357 : 863-873, 2007.
PubMed
6) Dwyer AA, et al : Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab 98 : E1790-1795, 2013.
PubMed
P.39 掲載の参考文献
1) Del Castillo EB, et al : Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J Clin Endocrinol Metab 7 : 493-502, 1947.
PubMed
2) Tournaye H, et al : Are there any predictive factors for successful testicular sperm recovery in azoospermic patients? Hum Reprod 12 : 80-86, 1997.
PubMed
3) Jarow Jp, et al : Evaluation of the azoospermic patient. J Urol 142 : 62-65, 1989.
 
4) Lee JY, et al : Role of genetics in azoospermia. Urology 77 : 598-601, 2011.
PubMed
5) Foresta C, et al : Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 90 : 152-156, 2005.
PubMed
6) Ferlin A, et al : Male infertility : role of genetic background. Reprod Biomed Online 14 : 734-745, 2007.
PubMed
7) Vogt PH, et al : Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5 : 933-943, 1996.
PubMed
8) Witschi E : Migration of the germ cells of human embryos from the yolk sac to the primitive gonadal folds. Contrib Embryol Carnegie Inst 32 : 67-80, 1948.
 
9) Colaco S, Modi D : Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol 16 : 14, 2018.
PubMed
10) Hamada AJ, et al : A comprehensive review of genetics and genetic testing in azoospermia. Clinics (Sao Paulo) 68 (Suppl 1) : 39-60, 2013.
 
11) Spiteri-Grech J, Nieschlag E : Paracrine factors relevant to the regulation of spermatogenesis-a review. J Reprod Fertil 98 : 1-14, 1993.
 
12) Meachem SJ, et al : Inhibin B in male reproduction : pathophysiology and clinical relevance. Eur J Endocrinol 145 : 561-571, 2001.
PubMed
13) Iijima M, et al : New molecular diagnostic kit to assess Y-chromosome deletions in the Japanese population. Int J Urol 21 : 910-916, 2014.
 
14) Palermo G, et al : Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet 340 : 17-18, 1992.
PubMed
P.44 掲載の参考文献
1) Park IJ, et al : A case of male pseudohermaphroditism associated with elevated LH, normal FSH and low testosterone possibly due to the secretion of an abnormal LH molecule. Acta Endocrinol 83 : 173-181, 1976.
 
2) Axelrod L, et al : Hypogonadism in a male with immunologically active, biologically inactive luteinizing hormone : an exception to a venerable rule. J Clin Endocrinol Metab 48 : 279-287, 1979.
 
3) Beitins IZ, et al : Hypogonadism in a male with an immunologically active, biologically inactive luteinizing hormone : characterization of the abnormal hormone. J Clin Endocrinol Metab 52 : 1143-1149, 1981.
 
4) Weiss J, et al : Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. N Engl J Med 326 : 179-183, 1992.
PubMed
5) Valdes-Socin H, et al : Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene. N Engl J Med 351 : 2619-2625, 2004.
 
6) Lofrano-Porto A, et al : Luteinizing hormone beta mutation and hypogonadism in men and women. N Engl J Med 357 : 897-904, 2007.
PubMed
7) Achard C, et al : Normal spermatogenesis in a man with mutant luteinizing hormone. N Engl J Med 361 : 1856-1863, 2009.
 
8) Basciani S, et al : Hypogonadism in a patient with two novel mutations of the luteinizing hormone β-subunit gene expressed in a compound heterozygous form. J Clin Endocrinol Metab 97 : 3031-3038, 2012.
 
9) Pettersson K, et al : An immunologically anomalous luteinizing hormone variant in a healthy woman. J Clin Endocrinol Metab 74 : 164-171, 1992.
 
10) Furui K, et al : Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants. J Clin Endocrinol Metab 78 : 107-113, 1994.
PubMed
11) Huhtaniemi IT, et al : Effect of polymorphisms in selected genes involved in pituitary-testicular function on reproductive hormones and phenotype in aging men. J Clin Endocrinol Metab 95 : 1898-1908, 2010.
 
12) Suganuma N, et al : Effects of the mutations (Trp8 Arg and Ile15 Thr) in human luteinizing hormone (LH) beta-subunit on LH bioactivity in vitro and in vivo. Endocrinology 137 : 831-838, 1996.
PubMed
13) Shiraishi K, Naito K : Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone. Endocr J 50 : 733-737, 2003.
PubMed
14) Rajkhowa M, et al : Prevalence of an immunological LH beta-subunit variant in a UK population of healthy women and women with polycystic ovary syndrome. Clin Endocrinol (Oxf) 43 : 297-303, 1995.
 
P.48 掲載の参考文献
1) 吉田謙一郎, 大島博幸 : 正常ゴナドトロピン性精子形成障害 (特発性精子形成障害). 別冊日本臨牀 領域別症候群シリーズ No 1 内分泌症候群 (上), p597-599, 日本臨牀社, 1993.
 
2) Yoshida K, et al : Studies of the human testis. XVI. Evaluation of multiple indexes of testicular function in relation to advanced age, idiopathic oligospermia, or varicocele. Fertil Steril 38 : 712-720, 1982.
PubMed
3) 吉田謙一郎 : ヒト精漿中のtransferrin濃度についての検討. 日本泌尿器科学会雑誌 80 : 216-223, 1989.
 
4) Scaglia HE, et al : Altered testicular hormone production in infertile patients with idiopathic oligoasthenospermia. J Androl 12 : 273-280, 1991.
PubMed
5) Yoshida KI, et al : CAG repeat length in the androgen receptor gene is enhanced in patients with idiopathic azoospermia, Urology 54 : 1078-1081, 1999.
PubMed
6) Toyoshima T : Frequency of luteinizing hormone-beta gene variants is increased in Japanese patients with idiopathic azoospermia. Jpn J Fertil Steril 46 : 111-115, 2001.
 
7) Koh E, et al : Azoospermia factor and male infertility. Reprod Med Biol 9 : 129-137, 2010.
PubMed
8) Saito K, et al : Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification. J Hum Genet 60 : 127-131, 2015.
 
9) Jungwirth A, et al : EAU Guidelines on Male Infertility, European Association of Urology, 2016. [https://uroweb.org/guideline/male-infertility/] (2018年11月閲覧)
 
10) 石坂和博, ほか : 男子生殖腺機能. ホルモンと臨床 50 (春季増刊号 : 内分泌機能検査の実際) : 115-121, 2002.
 
11) Shiraishi K, et al : Salvage hormonal therapy after failed microdissection testicular sperm extraction : A multi-institutional prospective study. Int J Urol 23 : 496-500, 2016.
PubMed
P.51 掲載の参考文献
1) Young D : Surgical treatment of male infertility. J Reprod Fertil 23 : 541-542, 1970.
PubMed
2) Hendry WF, et al : Obstructive azoospermia : respiratory function tests, electron microscopy and the results of surgery. Br J Urol 50 : 598-604, 1978.
PubMed
3) Neville E, et al : Respiratory tract disease and obstructive azoospermia. Thorax 38 : 929-933, 1983.
PubMed
4) Handelsman DJ, et al : Young's syndrome. Obstructive azoospermia and chronic sinopulmonary infections. N Engl J Med 310 : 3-9, 1984.
 
5) 岩本晃明 : 男性不妊症の検査. 日常診療のための泌尿器科診断学 (吉田修編), p179-197, インターメディカ, 2002.
 
6) 臼杵二郎 : Young症候群. 呼吸 32 : 944-947, 2013.
Medical*Online
7) Arya AK, et al : Does Young's syndrome exist? J Laryngol Otol 123 : 477-481, 2009.
 
8) Matsuda T, et al : Young's syndrome : report of two Japanese cases. Urol Int 47 : 53-56, 1991.
 
9) Hughes TM, et al : Young's syndrome : an often unrecognized correctable cause of obstructive azoospermia. J Urol 137 : 1238-1240, 1987.
 
10) Hendry WF, et al : Was Young's syndrome caused by exposure to mercury in childhood? BMJ 307 : 1579-1582, 1993.
 
11) Le Lannou D, et al : Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome) : a genetic approach. Hum Reprod 10 : 338-341, 1995.
 
12) 三田耕司, 碓井亜 : Young症候群. 別冊日本臨牀 新領域別症候群シリーズ No2 内分泌症候群 (第2版) II, p257-259, 日本臨牀社, 2006.
 
13) McConnell EM : The histopathology of the epididymis in a group of cases of azoospermia with normal testicular function. Br J Urol 53 : 173-178, 1981.
 
P.56 掲載の参考文献
1) 柴原浩章 : 症例から学ぶ生殖医学 2) 不妊 抗精子抗体. 日本産科婦人科学会雑誌 57 : N325-N331, 2005.
 
2) Cui D, et al : Antisperm antibodies in infertile men and their effect on semen parameters : a systematic review and meta-analysis. Clin Chim Acta 444 : 29-36, 2015.
PubMed
3) Bozhedomov VA, et al : Functional deficit of sperm and fertility impairment in men with antisperm antibodies. J Reprod Immunol 112 : 95-101, 2015.
PubMed
4) Fijak M, et al : Infectious, inflammatory and 'autoimmune' male factor infertility : how do rodent models inform clinical practice? Hum Reprod Update 24 : 416-441, 2018.
PubMed
5) Shibahara H, et al : Diversity of antisperm antibodies bound to sperm surface in male immunological infertility. Am J Reprod Immunol 47 : 146-150, 2002.
PubMed
6) 柴原浩章 : 3) 精液検査 (1. 内分泌・不妊検査法, C. 産婦人科検査法, 研修コーナー). 日本産科婦人科学会雑誌 59 : N32-N36, 2007.
 
7) Omu AE, et al : Effect of low dose continuous corticosteroid therapy in men with antisperm antibodies on spermatozoal quality and conception rate. Eur J Obstet Gynecol Reprod Biol 69 : 129-134, 1996.
PubMed
8) Clarke GN, et al : Intracytoplasmic sperm injection for treating infertility associated with sperm autoimmunity. Fertil Steril 68 : 112-117, 1997.
PubMed
9) Nagy ZP, et al : Results of 55 intracytoplasmic sperm injection cycles in the treatment of maleimmunological infertility. Hum Reprod 10 : 1775-1780, 1995.
PubMed
P.59 掲載の参考文献
1) Gazvani MR, et al : Assessment of testicular core temperatures using microwave thermography. Hum Reprod 15 : 1723-1726, 2000.
PubMed
2) Aslam I, et al : Fertility preservation of boys undergoing anti-cancer therapy : a review of the existing situation and prospects for the future. Hum Reprod 15 : 2154-2159, 2000.
PubMed
3) Di Paolo MC, et al : Sulphasalazine and 5-aminosalicylic acid in long-term treatment of ulcerative colitis : report on tolerance and side-effects. Dig Liver Dis 33 : 563-569, 2001.
PubMed
4) 新部英男, 長谷川正俊 : 放射線と精巣障害. 新図説泌尿器科学講座 4 内分泌疾患, 性機能障害 (吉田修監修, 小柳知彦, ほか編), p205-206, メジカルビュー社, 1999.
 
5) Nakamura Y, et al : Chromosomal variants among 1790 infertile men. Int J Urol 8 : 49-52, 2001.
PubMed
6) Kondoh N, et al : Clinical features and treatment prognosis of infertile males with robertsonian translocation. Urol Int 69 : 309-312, 2002.
PubMed
7) Vogt PH, et al : Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5 : 933-943, 1996.
PubMed
8) 宮川康 : 男性不妊. 綜合臨牀 51 (増刊) : 1639-1642, 2002.
Medical*Online
9) Schill WB, et al : Combined hMG/hCG treatment in subfertile men with idiopathic normogonadotrophic oligozoospermia. Int J Androl 5 : 467-477, 1982.
PubMed
10) Foresta C, et al : Use of recombinant human follicle-stimulating hormone in the treatment of male factor infertility. Fertil Steril 77 : 238-244, 2002.
PubMed
11) Tsujimura A, et al : Conventional multiple or microdissection testicular sperm extraction : a comparative study. Hum Reprod 17 : 2924-2929, 2002.
 
12) Deruyver Y, et al : Outcome of microdissection TESE compared with conventional TESE in non-obstructive azoospermia : a systematic review. Andrology 2 : 20-24, 2014.
PubMed
P.61 掲載の参考文献
1) 松田公志 : Varicocelectomy. 日本泌尿器科学会雑誌 84 : 797-813, 1993.
 
2) 六車光英, 松田公志 : EBMから見た精索静脈瘤手術. 日本生殖外科学会雑誌 17 : 26-29, 2004.
Medical*Online
3) 六車光英, 松田公志 : 精索静脈瘤. 新図説泌尿器科学講座 4 内分泌疾患・性機能障害 (小柳知彦, ほか編), p220-226, メジカルビュー社, 1999.
 
4) Bong GW, Koo HP : The adolescent varicocele : to treat or not to treat. Urol Clin North Am 31 : 509-515, ix, 2004.
PubMed
5) Palomo A : Radical cure of varicocele by a new technique ; preliminary report. J Urol 61 : 604-607, 1949.
PubMed
6) Sayfan J, et al : A new entity in varicocele subfertility : the "cremasteric reflux". Fertil Steril 33 : 88-90, 1980.
PubMed
7) Szabo R, Kessler R : Hydrocele following internal spermatic vein ligation : a retrospective study and review of the literature. J Urol 132 : 924-925, 1984.
PubMed
8) Matsuda T : Laparoscopic treatment for varicocele testis : Current status. In : Recent Advances in Endourology, Vol 1 (ed by Yoshida O, et al), p164-177, Springer-Verlag, Tokyo, 1999.
 
9) Goldstein M, et al : Microsurgical inguinal varicocelectomy with delivery of the testis : an artery and lymphatic sparing technique. J Urol 148 : 1808-1811, 1992.
PubMed
10) Pryor JL, Howards SS : Varicocele. Urol Clin North Am 14 : 499-513, 1987.
PubMed
P.66 掲載の参考文献
1) Batias C, et al : Connexin43 gene expression and regulation in the rodent seminiferous epithelium. J Histochem Cytochem 48 : 793-805, 2000.
PubMed
2) Matsumiya K, et al : Clinical study of azoospermia. Int J Androl 17 : 140-142, 1994.
PubMed
3) Terada T, Hatakeyama S : Morphological evidence for two types of idiopathic 'Sertoli-cell-only' syndrome. Int J Androl 14 : 117-126, 1991.
PubMed
4) Pointis G, Segretain D : Role of connexin-based gap junction channels in testis. Trends Endocrinol Metab 16 : 300-306, 2005.
PubMed
5) McKay DG, et al : Histochemical observations on the germ cells of human embryos. Anat Rec 117 : 201-219, 1953.
PubMed
6) Wei CJ, et al : Connexins and cell signaling in development and disease. Annu Rev Cell Dev Biol 20 : 811-838, 2004.
PubMed
7) Lee JH, et al : Expression of beta-catenin in human testes with spermatogenic defects. Arch Androl 51 : 271-276, 2005.
PubMed
8) Kovac JR, et al : The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility. Fertil Steril 99 : 998-1007, 2013.
PubMed
9) Schoor RA, et al : The role of testicular biopsy in the modern management of male infertility. J Urol 167 : 197-200, 2002.
PubMed
10) Gudeman SR, et al : Etiology of azoospermia in a military population. J Urol 193 : 1318-1321, 2015.
 
11) Devroey P, et al : Pregnancies after testicular sperm extraction and intracytoplasmic sperm injection in non-obstructive azoospermia. Hum Reprod 10 : 1457-1460, 1995.
PubMed
12) Vernaeve V, et al : Intracytoplasmic sperm injection with testicular spermatozoa is less successful in men with nonobstructive azoospermia than in men with obstructive azoospermia. Fertil Steril 79 : 529-533, 2003.
PubMed
13) Hashemi MS, et al : Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men. Andrology, 2018. [Epub ahead of print]
 
P.70 掲載の参考文献
1) Jungwirth A, et al : Guidelines on Male Infertility, European Association of Urology, 2013.
 
2) Shiraishi K, Matsuyama H : Effects of medical comorbidity on male infertility and comorbidity treatment on spermatogenesis. Fertil Steril 110 : 1006-1011, 2018.
PubMed
3) Shiraishi K, et al : Pathophysiology of varicocele in male infertility in the era of assisted reproductive technology. Int J Urol 19 : 538-550, 2012.
 
4) Shiraishi K, et al : Human chorionic gonadotrophin treatment prior to microdissection testicular sperm extraction in non-obstructive azoospermia. Hum Reprod 27 : 331-339, 2012.
PubMed
5) Taniguchi H, et al : Contemporary outcomes of seminal tract re-anastomoses for obstructive azoospermia : a nationwide Japanese survey. Int J Urol 22 : 213-218, 2015.
PubMed
P.74 掲載の参考文献
1) 日本性機能学会, 日本泌尿器科学会 (編) : ED診療ガイドライン [第3版], リッチヒルメディカル, 2018.
 
2) 永尾光一 : 平成11年度厚生科学研究「子ども家庭総合研究事業」わが国における生殖補助医療の実態とその在り方に関する研究, 分担研究 : 男性不妊の実態及び治療等に関する研究 (勃起障害), 平成11年度研究報告書, p892-894, 2000.
 
3) Laumann EO, et al : Sexual dysfunction in the United States : prevalence and predictors. JAMA 281 : 537-544, 1999.
PubMed
4) Althof SE, et al : International Society for Sexual Medicine's guidelines for the diagnosis and treatment of premature ejaculation. J Sex Med 7 : 2947-2969, 2010.
PubMed
5) Jannini EA, Lenzi A : Epidemiology of premature ejaculation. Curr Opin Urol 15 : 399-403, 2005.
PubMed
6) Waldinger MD, et al : A five-nation survey to assess the distribution of the intravaginal ejaculatory latency time among the general male population. J Sex Med 6 : 2888-2895, 2009.
PubMed
7) 永尾光一, ほか : 若年者で話題の射精障害 早漏. 泌尿器外科 26 : 1363-1371, 2013.
 
8) Ohl DA, et al : Anejaculation and retrograde ejaculation. Urol Clin North Am 35 : 211-220, viii, 2008.
PubMed
9) Stewart DE, Ohl DA : Idiopathic anejaculation treated by electroejaculation. Int J Psychiatry Med 19 : 263-268, 1989.
 
10) Perelman MA, Rowland DL : Retarded ejaculation. World J Urol 24 : 645-652, 2006.
PubMed
11) Brooks ME, et al : Treatment of retrograde ejaculation with imipramine. Urology 15 : 353-355, 1980.
PubMed
12) Kamischke A, Nieschlag E : Update on medical treatment of ejaculatory disorders. Int J Androl 25 : 333-344, 2002.
PubMed
13) van der Linden PJ, et al : Retrograde ejaculation : successful treatment with artificial insemination. Obstet Gynecol 79 : 126-128, 1992.
PubMed
P.78 掲載の参考文献
1) Tiepolo L, Zuffardi O : Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome. Hum Genet 34 : 119-124, 1976.
PubMed
2) Vogt PH, et al : Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5 : 933-943, 1996.
PubMed
3) Skaletsky H, et al : The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423 : 825-837, 2003.
PubMed
4) Kuroda-Kawaguchi T, et al : The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29 : 279-286, 2001.
 
5) Ferlin A, et al : Male infertility : role of genetic background. Reprod Biomed Online 14 : 734-745, 2007.
PubMed
6) Koh E, et al : Azoospermia factor and male infertility. Reprod Med Biol 9 : 129-137, 2010.
PubMed
7) Sin HS, et al : Features of constitutive gr/gr deletion in a Japanese population. Hum Reprod 25 : 2396-2403, 2010.
 
8) Stankiewicz P, et al : Genome architecture, rearrangements and genomic disorders. Trends Genet 18 : 74-82, 2002.
PubMed
9) Bosch E, Jobling MA : Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum Mol Genet 12 : 341-347, 2003.
PubMed
10) Blanco P, et al : Divergent outcomes of intrachromosomal recombination on the human Y chromosome : male infertility and recurrent polymorphism. J Med Genet 37 : 752-758, 2000.
PubMed
11) Valetto A, et al : Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man. Fertil Steril 81 : 1388-1390, 2004.
 
12) Repping S, et al : Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35 : 247-251, 2003.
PubMed
13) 高栄哲, ほか : 無精子症関連遺伝子とY染色体微小欠失検出キット. 日本哺乳動物卵子学会誌 30 : 135-144, 2013. [https://kanazawa-u.repo.nii.ac.jp/?actio=repository_uri&item_id=14080] (2018年11月閲覧)
 
14) Iijima M, et al : New molecular diagnostic kit to assess Y-chromosome deletions in the Japanese population. Int J Urol 21 : 910-916, 2014.
 
P.82 掲載の参考文献
1) Sleigh MA : Primary ciliary dyskinesia. Lancet 2 : 476, 1981.
PubMed
2) Nonaka S, et al : Determination of left-right patterning of the mouse embryo by artificial nodal flow. Nature 418 : 96-99, 2002.
PubMed
3) Shiraishi K, et al : Young's syndrome associated with situs inversus totalis. Arch Androl 50 : 169-172, 2004.
 
4) Stannard WA, et al : Diagnostic testing of patients suspected of primary ciliary dyskinesia. Am J Respir Crit Care Med 181 : 307-314, 2010.
PubMed
5) Ji ZY, et al : Genetic factors contributing to human primary ciliary dyskinesia and male infertility. Asian J Androl 19 : 515-520, 2017.
 
6) Afzelius BA : Genetical and ultrastructural aspects of the immotile-cilia syndrome. Am J Hum Genet 33 : 852-864, 1981.
PubMed
7) Handelsman DJ, et al : Young's syndrome. Obstructive azoospermia and chronic sinopulmonary infections. N Engl J Med 310 : 3-9, 1984.
 
8) Westlander G, et al : Different fertilization rates between immotile testicular spermatozoa and immotile ejaculated spermatozoa for ICSI in men with Kartagener's syndrome : case reports. Hum Reprod 18 : 1286-1288, 2003.
PubMed
9) Peeraer K, et al : Pregnancy after ICSI with ejaculated immotile spermatozoa from a patient with immotile cilia syndrome : a case report and review of the literature. Reprod Biomed Online 9 : 659-663, 2004.
PubMed
10) Casper RF, et al : The hypo-osmotic swelling test for selection of viable sperm for intracytoplasmic sperm injection in men with complete asthenozoospermia. Fertil Steril 65 : 972-976, 1996.
PubMed
11) Kay VJ, Irvine DS : Successful in vitro fertilization pregnancy with spermatozoa from a patient with Kartagener's syndrome : case report Hum Reprod 15 : 135-138, 2000.
PubMed
P.92 掲載の参考文献
1) 中西弘之 : 精巣癌の疫学. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (下)) : 363-365, 2017.
 
2) 厚生労働省 : 平成27年 (2015) 人口動態統計 2015.
Medical*Online
3) Oliver RTD : Epidemiology of testis cancer. In : Comprehensive Textbook of Genitourinary Oncology, 3rd ed (ed by Vogelzang NJ, et al), p547-558, Lippincott Williams & Wilkins, Philadelphia, 2006.
 
4) 三浦猛 : 精巣癌の疫学. 日本臨牀 68 (増刊 : 腎・泌尿器癌) : 468-472, 2010.
 
5) Dieckmann KP, Pichlmeier U : Clinical epidemiology of testicular germ cell tumors. World J Urol 22 : 2-14, 2004.
PubMed
6) Kramer JL, Greene MH : Hereditary testicular cancer. In : Comprehensive Textbook of Genitourinary Oncology, 3rd ed (ed by Vogelzang NJ, et al), p558-562, Lippincott Williams & Wilkins, Philadelphia, 2006.
 
7) Rapley EA, et al : Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet 24 : 197-200, 2000.
PubMed
8) 佐藤悠佑 : 精巣癌の分子機構. 日本臨牀 75 (増刊 : がん転移学 (上)) : 221-225, 2017.
 
9) Oosterhuis JW, Looijenga LHJ : Testicular germ-cell tumours in abroader perspective. Nat Rev Cancer 5 : 210-222, 2005.
PubMed
10) Moch H, et al : The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs-Part A : Renal, Penile, and Testicular Tumours. Eur Urol 70 : 93-105, 2016.
 
11) Daneshmand S, Dorff T : Update on Medical and Surgical Management of Advanced Testis Cancer. AUA Update Series Lesson 3 : vol 37, American Urological Association, 2018.
 
12) Albers P, et al : EAU Guidelines on Testicular Cancer, European Association of Urology, 2018.
 
13) International Germ Cell Consensus Classification : a prognostic factor-based staging system for metastatic germ cell cancers. International Germ Cell Cancer Collaborative Group. J Clin Oncol 15 : 594-603, 1997.
 
14) UICC日本委員会 TNM委員会 (訳) : 精巣. TNM悪性腫瘍の分類 [第8版], p195-198, 金原出版, 2017. (UICC : Testis. In : TNM Classification of Malignant Tumours, 8th ed (ed by Brierley JD, et al), Wiley Blackwell, Oxford, 2017)
 
15) 泌尿器科・病理 精巣腫瘍取扱い規約 [第3版] (日本泌尿器科学会, 日本病理学会編), 金原出版, 2005.
 
16) Aparicio J, et al : Risk-adapted management for patients with clinical stage I seminoma : the Second Spanish Germ Cell Cancer Cooperative Group study. J Clin Oncol 23 : 8717-8723, 2005.
 
17) Jones RH, Vasey P : Part I : testicular cancer-management of early disease. Lancet Oncol 4 : 730-737, 2003.
PubMed
18) Scholz M, Hoeltl W : Stage I testicular cancer. Curr Opin Urol 13 : 473-476, 2003.
 
19) 寺川智章, ほか : 精巣癌の検査・診断 リスク分類と予後因子. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (下)) : 397-401, 2017.
 
20) Gori S, et al : Germ cell tumours of the testis. Crit Rev Oncol Hematol 53 : 141-164, 2005.
PubMed
21) 河合弘二 : 精巣癌の治療 各病期における精巣癌治療の現況. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (下)) : 405-411, 2017.
 
22) Fizazi K, et al : Personalised chemotherapy based on tumour marker decline in poor prognosis germ-cell tumours (GETUG 13) : a phase 3, multicentre, randomised trial. Lancet Oncol 15 : 1442-1450, 2014.
PubMed
23) 川喜田睦司 : 進行精巣腫瘍における手術療法. 臨床泌尿器科 57 : 371-396, 2003.
 
24) 山田成幸, ほか : 精巣癌の治療 手術療法 化学療法後の残存腫瘍摘除術. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (下)) : 415-419, 2017.
 
25) 井上高光, ほか : 精巣癌の治療 手術療法 救済化学療法後の腫瘍マーカー陽性進行性非セミノーマに対する救済残存腫瘍摘除術. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (下)) : 420-425, 2017.
 
26) International Prognostic Factors Study Group, et al : Prognostic factors in patients with metastatic germ cell tumors who experienced treatment failure with cisplatin-based first-line chemotherapy. J Clin Oncol 28 : 4906-4911, 2010.
 
27) Motzer RJ, et al : Paclitaxel, ifosfamide, and cisplatin second-line therapy for patients with relapsed testicular germ cell cancer. J Clin Oncol 18 : 2413-2418, 2000.
PubMed
28) 山下亮, ほか : 精巣癌の治療 放射線治療. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (下)) : 450-453, 2017.
 
29) Zagars GK : Management of stage I seminoma : radiotherapy. In Testicular Cancer-investigation and management 2nd ed., edited by Horwich A, Chapman & Hall, London, pp99-121, 1996.
 
30) 宮川康, ほか : 精巣腫瘍化学療法後の生殖機能. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (下)) : 472-476, 2017.
 
31) Haugnes HS, et al : Long-term and late effects of germ cell testicular cancer treatment and implications for follow-up. J Clin Oncol 30 : 3752-3763, 2012.
PubMed
32) 赤塚純, 近藤幸尋 : 性腺外胚細胞腫瘍. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (下)) : 468-471, 2017.
 
33) Chortis V, et al : Mitotane treatment in patients with metastatic testicular Leydig cell tumor associated with severe androgen excess. Eur J Endocrinol 178 : K21-K27, 2018.
PubMed
34) 安藤忠助, ほか : セルトリ細胞腫の1例. 西日本泌尿器科 65 : 120-123, 2003.
Medical*Online
P.96 掲載の参考文献
1) Nickel JC : Other inflammatory and pain conditions of the lower urinary tract : Orchitis. In : Campbell-Walsh Urology, 11ed (ed by Wein AJ, et al), p329-333, Elsevier, Philadelphia, 2016.
 
2) Nicholson A, et al : Management of epididymo-orchitis in primary care : results from a large UK primary care database. Br J Gen Pract 60 : e407-422, 2010.
PubMed
3) Trojian TH, et al : Epididymitis and orchitis : an overview. Am Fam Physician 79 : 583-587, 2009.
PubMed
4) Savasci U, et al : Brucellar epididymo-orchitis : a retrospective multicenter study of 28 cases and review of the literature. Travel Med Infect Dis 12 (6 Pt A) : 667-672, 2014.
 
5) Alazab RS, et al : Xanthogranulomatous Orchitis : Rare Case with Brief Literature Review. Urol Case Rep 13 : 92-93, 2017.
PubMed
6) Yadav S, et al : Genital tuberculosis : current status of diagnosis and management. Transl Androl Urol 6 : 222-233, 2017.
PubMed
7) Colomba C, et al : A Case of Epididymo-orchitis after intravesical bacille Calmette-Guerin therapy for superficial bladder carcinoma in a patient with latent tuberculosis infection. Infect Agent and Cancer 11 : 2016. (doi : 10.1186/s13027-016-0072-y)
 
8) Bartak V : Sperm count, morphology, and motility after unilateral mumps orchitis. J Reprod Fertil 32 : 491-494, 1973.
PubMed
9) Modi S, et al : Acute Scrotal Swelling in Henoch-Schonlein Purpura : Case Report and Review of the Literature. Urol Case Rep 6 : 9-11, 2016.
PubMed
10) Kanakis MA, et al : Epididymo-Orchitis in Bechet's Disease : A Review of the Wide Spectrum of the Disease. Acta Med Iran 55 : 482-485, 2017.
 
11) 今村哲也, 堀内英輔 : 肉芽腫性精巣炎の1例. 泌尿器科紀要 62 : 45-47, 2016.
 
12) Yamashita S, et al : Xanthogranulomatous orchitis after blunt testicular trauma mimicking a testicular tumor : A case report and comparison with published cases. Urol J 14 : 3094-3096, 2017.
PubMed
13) Kuhn AL, et al : Ultrasonography of the scrotum in adults. Ultrasonography 35 : 180-197, 2016.
PubMed
14) 白石晃司 : 男性性器疾患を診る-初期対応から専門的治療まで 慢性陰嚢痛. 臨床泌尿器科 68 : 155-161, 2014.
 
15) 竹島徹平, ほか : ムンプス精巣炎罹患後に造精機能障害を来たした7症例の臨床的検討. 泌尿器科紀要 61 : 227-233, 2015.
 
P.100 掲載の参考文献
1) Masumori N, et al : Leydig cell tumor : a case report with reference to its endocrinological features. Eur Urol 24 : 302-304, 1993.
PubMed
2) Kimura M, et al : Aromatase activity in an estrogen-producing adrenocortical carcinoma in a young man. J Urol 153 (3 Pt 2) : 1039-1040, 1995.
 
3) Pensler JM, et al : Estrogen and progesterone receptors in gynecomastia. Plast Reconstr Surg 106 : 1011-1013, 2000.
PubMed
4) Shozu M, et al : Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene. N Engl J Med 348 : 1855-1865, 2003.
 
5) Amrhein JA, et al : Partial androgen insensitivity : the Reifenstein syndrome revisited. N Engl J Med 297 : 350-356, 1977.
PubMed
6) Imperato-McGinley J, et al : Steroid 5alpha-reductase deficiency in man : an inherited form of male pseudohermaphroditism. Science 186 : 1213-1215, 1974.
 
7) Fishman J, et al : Biological properties of 16 alpha-hydroxyestrone : implications in estrogen physiology and pathophysiology. J Clin Endocrinol Metab 51 : 611-615, 1980.
PubMed
8) Maruyama Y, et al : Mechanism of feminization in male patients with non-alcoholic liver cirrhosis : role of sex hormone-binding globulin. Gastroenterol Jpn 26 : 435-439, 1991.
PubMed
9) Lim VS, et al : Endocrine abnormalities associated with chronic renal failure. Med Clin North Am 62 : 1341-1361, 1978.
PubMed
10) Thomas R Reid RL : Thyroid disease and reproductive dysfunction : a review. Obstet Gynecol 70 : 789-798, 1987.
PubMed
11) McLeod DG, Iversen P : Gynecomastia in patients with prostate cancer : a review of treatment options. Urology 56 : 713-720, 2000.
PubMed
12) Pont A, et al : Ketoconazole blocks testosterone synthesis. Arch Intern Med 142 : 2137-2140, 1982.
PubMed
13) Rose LI, et al : Pathophysiology of spironolactone-induced gynecomastia. Ann Intern Med 87 : 398-403, 1977.
PubMed
14) Garcia Rodriguez LA, Jick H : Risk of gynaecomastia associated with cimetidine, omeprazole, and other antiulcer drugs. BMJ 308 : 503-506, 1994.
PubMed
15) Khan HN, et al : Local anaesthetic and steroid combined injection therapy in the management of non-cyclical mastalgia. Breast 13 : 129-132, 2004.
PubMed
P.107 掲載の参考文献
1) Sansone A, et al : Gynecomastia and hormones. Endocrine 55 : 37-44, 2017.
PubMed
2) Braunstein GD : Clinical practice. Gynecomastia. N Engl J Med 357 : 1229-1237, 2007.
PubMed
3) Narula HS, Carlson HE : Gynaecomastia-pathophysiology, diagnosis and treatment. Nat Rev Endocrinol 10 : 684-698, 2014.
PubMed
4) Harman SM, et al : Longitudinal effects of aging on serum total and free testosterone levels in healthy men. Baltimore Longitudinal Study of Aging. J Clin Endocrinol Metab 86 : 724-731, 2001.
PubMed
5) Krassas GE, et al : Thyroid function and human reproductive health. Endocr Rev 31 : 702-755, 2010.
PubMed
6) Meikle AW : The interrelationships between thyroid dysfunction and hypogonadism in men and boys. Thyroid 14 (Suppl 1) : S17-25, 2004.
 
7) Dickson G : Gynecomastia. Am Fam Physician 85 : 716-722, 2012.
PubMed
8) Eren E, et al : Genetic variants of estrogen beta and leptin receptors may cause gynecomastia in adolescent. Gene 541 : 101-106, 2014.
PubMed
9) Sansone A, et al : Endocrine evaluation of erectile dysfunction. Endocrine 46 : 423-430, 2014.
PubMed
10) Mieritz MG, et al : A Longitudinal Study of Growth, Sex Steroids, and IGF-1 in Boys With Physiological Gynecomastia. J Clin Endocrinol Metab 100 : 3752-3759, 2015.
PubMed
11) Bowman JD, et al : Drug-induced gynecomastia. Pharmacotherapy 32 : 1123-1140, 2012.
PubMed
12) Mauras N, et al : Pharmacokinetics and pharmacodynamics of anastrozole in pubertal boys with recent-onset gynecomastia. J Clin Endocrinol Metab 94 : 2975-2978, 2009.
PubMed
13) Ting AC, et al : Comparison of tamoxifen with danazol in the management of idiopathic gynecomastia. Am Surg 66 : 38-40, 2000.
PubMed
14) Cordova A, Moschella F : Algorithm for clinical evaluation and surgical treatment of gynaecomastia. J Plast Reconstr Aesthet Surg 61 : 41-49, 2008.
PubMed
15) Dicker AP : The safety and tolerability of low-dose irradiation for the management of gynaecomastia caused by antiandrogen monotherapy. Lancet Oncol 4 : 30-36, 2003.
PubMed
P.111 掲載の参考文献
1) 小坂威雄, 大家基嗣 : アンドロゲン受容体阻害剤・アンドロゲン産生阻害剤. 日本臨牀 73 (増刊号 : 抗がん剤の副作用と支持療法) : 308-312, 2015.
 
2) 内山利満, 古川勝雄 : 【男性更年期障害 その関連領域も含めたアプローチ】 男子更年期障害の臨床 有害な副作用 : 各種薬剤と性機能障害. Modern Physician 24 : 297-303, 2004.
 
3) Ra S, et al : In vitro contraction of the canine corpus cavernosum penis by direct perfusion with prolactin or growth hormone. J Urol 156 : 522-525, 1996.
PubMed
4) Cook PS, et al : Effect of diazepam on serum testosterone and the ventral prostate gland in male rats. Arch Androl 3 : 31-35, 1979.
PubMed
5) Duncan S, et al : Antiepileptic drug therapy and sexual function in men with epilepsy. Epilepsia 40 : 197-204, 1999.
PubMed
6) 田渕優希子, ほか : オピオイドによる内分泌機能異常. 日本ペインクリニック学会誌 20 : 17-23, 2013.
Medical*Online
7) Shiri R, et al : Effect of nonsteroidal anti-inflammatory drug use on the incidence of erectile dysfunction. J Urol 175 : 1812-1815 ; discussion 1815-1816, 2006.
 
8) Khan UA, et al : Effect of beta adrenergic antagonist on the production of testosterone by rat's Leydig cells. J Ayub Med Coll Abbottabad 16 : 26-28, 2004.
 
9) 児玉浩子, ほか : 亜鉛欠乏症の診療指針. 日本臨床栄養学会雑誌 38 : 104-148, 2016.
Medical*Online
10) 上芝元 : アンジオテンシン変換酵素阻害薬ペリンドプリルのインスリン抵抗性改善作用と副腎アンドロジェン増加作用. Therapeutic Research 26 : 499-503, 2005.
Medical*Online
11) Xu S, et al : Effect of clofibrate administration on the esterification and deesterification of steroid hormones by liver and extrahepatic tissues in rats. Biochem Pharmacol 63 : 985-992, 2002.
PubMed
12) 竹島徹平, ほか : 薬剤性高プロラクチン血症が原因と考えられた男性不妊症の1例. 泌尿器科紀要 59 : 65-67, 2013.
 
13) 古武敏彦, ほか : 非ステロイド性抗アンドロゲン剤ビカルタミド (Casodex) の前立腺癌に対する長期投与試験. 泌尿器外科 9 : 343-355, 1996.
Medical*Online
14) Tran C, et al : Development of a second-generation antiandrogen for treatment of advanced prostate cancer. Science 324 : 787-790, 2009.
PubMed
15) Calogero AE, et al : Glucocorticoids inhibit gonadotropin-releasing hormone by acting directly at the hypothalamic level. J Endocrinol Invest 22 : 666-670, 1999.
 
16) Hensle TW, et al : Chemotherapy and its effect on testicular morphology in children. J Urol 131 : 1142-1144, 1984.
 
17) 小川良雄, 吉田英機 : 性機能障害とその対策. がん化学療法の有害反応対策ハンドブック [第4版] (吉田清一監修, 栗原稔, 佐々木常雄編), p305-312, 先端医学社, 2004.
 
18) Adams ML, et al : Imidazoles suppress rat testosterone secretion and testicular interstitial fluid formation in vivo. Biol Reprod 59 : 248-254, 1998.
PubMed
19) Emanuele MA, Emanuele NV : Alcohol's effects on male reproduction. Alcohol Health Res World 22 : 195-201, 1998.
 
20) 塚本泰司, ほか : 日本人男性の前立腺肥大症に対するデュタステリドの至適用量の検討 : ランダム化, 二重盲検, プラセボ対照, 並行群間, 用量反応試験. 泌尿器科紀要 55 : 209-214, 2009.
 
P.117 掲載の参考文献
1) Schwarz ER, et al : Erectile dysfunction in heart failure patients. J Am Coll Cardiol 48 : 1111-1119, 2006.
PubMed
2) Araujo AB, et al : Changes in sexual function in middle-aged and older men : longitudinal data from the Massachusetts Male Aging Study. J Am Geriatr Soc 52 : 1502-1509, 2004.
PubMed
3) Kaufman DW, et al : Recent patterns of medication use in the ambulatory adult population of the United States : the Slone survey. JAMA 287 : 337-344, 2002.
PubMed
4) Tanrikut C, et al : Adverse effect of paroxetine on sperm. Fertil Steril 94 : 1021-1026, 2010.
PubMed
5) Samplaski MK, Nangia AK : Adverse effects of common medications on male fertility. Nat Rev Urol 12 : 401-413, 2015.
PubMed
6) Semet M, et al : The impact of drugs on male fertility : a review. Andrology 5 : 640-663, 2017.
PubMed
7) Loren AW, et al : Fertility preservation for patients with cancer : American Society of Clinical Oncology clinical practice guideline update. J Clin Oncol 31 : 2500-2510, 2013.
 
8) Lambertini M, et al : Cancer and fertility preservation : international recommendations from an expert meeting. BMC Med 14 : 1, 2016.
PubMed
9) Gacci M, et al : Impact of medical treatments for male lower urinary tract symptoms due to benign prostatic hyperplasia on ejaculatory function : a systematic review and meta-analysis. J Sex Med 11 : 1554-1566, 2014.
PubMed
10) Ko DT, et al : Beta-blocker therapy and symptoms of depression, fatigue, and sexual dysfunction. JAMA 288 : 351-357, 2002.
PubMed
P.121 掲載の参考文献
1) Layton JB, et al : Testosterone lab testing and initiation in the United Kingdom and the United States, 2000 to 2011. J Clin Endocrinol Metab 99 : 835-842, 2014.
PubMed
2) Gonzalo IT, et al : Levonorgestrel implants (Norplant II) for male contraception clinical trials : combination with transdermal and injectable testosterone. J Clin Endocrinol Metab 87 : 3562-3572, 2002.
PubMed
3) Ko EY, et al : Empirical medical therapy for idiopathic male infertility : a survey of the American Urological Association. J Urol 187 : 973-978, 2012.
 
4) Gu Y, et al : Multicenter contraceptive efficacy trial of injectable testosterone undecanoate in Chinese men. J Clin Endocrinol Metab 94 : 1910-1915, 2009.
 
5) Liu PY, et al : Rate, extent, and modifiers of spermatogenic recovery after hormonal male contraception : an integrated analysis. Lancet 367 : 1412-1420, 2006.
PubMed
6) Rahnema CD, et al : Anabolic steroid-induced hypogonadism : diagnosis and treatment. Fertil Steril 101 : 1271-1279, 2014.
PubMed
7) Amory JK, et al : The effect of 5α-reductase inhibition with dutasteride and finasteride on semen parameters and serum hormones in healthy men. J Clin Endocrinol Metab 92 : 1659-1665, 2007.
 
8) Samplaski MK, et al : Finasteride use in the male infertility population : effects on semen and hormone parameters. Fertil Steril 100 : 1542-1546, 2013.
PubMed
9) Hellstrom WJ, Sikka SC : Effects of alfuzosin and tamsulosin on sperm parameters in healthy men : results of a short-term, randomized, double-blind, placebo-controlled, crossover study. J Androl 30 : 469-474, 2009.
 
10) Sinclair ML, et al : Specific expression of soluble adenylyl cyclase in male germ cells. Mol Reprod Dev 56 : 6-11, 2000.
PubMed
11) Fisch JD, et al : Enhancement of motility and acrosome reaction in human spermatozoa : differential activation by type-specific phosphodiesterase inhibitors. Hum Reprod 13 : 1248-1254, 1998.
PubMed
12) Su YH, et al : Cyclic GMP-specific phosphodiesterase-5 regulates motility of sea urchin spermatozoa. Mol Biol Cell 17 : 114-121, 2006.
PubMed
13) Glenn DR, et al : Sildenafil citrate improves sperm motility but causes a premature acrosome reaction in vitro. Fertil Steril 8711064-1070, 2007.
 
14) Makhlouf A, et al : Phosphodiesterase 11 : a brief review of structure, expression and function. Int J Impot Res 18 : 501-509, 2006.
PubMed
15) Purvis K, et al : The effects of sildenafil on human sperm function in healthy volunteers. Br J Clin Pharmacol 53 (Suppl 1) : 53S-60S, 2002.
 
16) du Plessis SS, et al : Effect of acute in vivo sildenafil citrate and in vitro 8-bromo-cGMP treatments on semen parameters and sperm function. Fertil Steril 81 : 1026-1033, 2004.
PubMed
17) Jarvi K, et al : Daily vardenafil for 6 months has no detrimental effects on semen characteristics or reproductive hormones in men with normal baseline levels. J Urol 179 : 1060-1065, 2008.
PubMed
18) Sousa MI, et al : Concentration-dependent sildenafil citrate (Viagra) effects on ROS production, energy status, and human sperm function. Syst Biol Reprod Med 60 : 72-79, 2014.
PubMed
19) Hellstrom WJ, et al : Tadalafil has no detrimental effect on human spermatogenesis or reproductive hormones. J Urol 170 : 887-891, 2003.
PubMed
20) Pomara G, et al : Alterations in sperm motility after acute oral administration of sildenafil or tadalafil in young, infertile men. Fertil Steril 88 : 860-865, 2007.
PubMed
21) Nudell DM, et al : Common medications and drugs : how they affect male fertility. Urol Clin North Am 29 : 965-973, 2002.
PubMed
22) Hendrick V, et al : Antidepressant medications, mood and male fertility. Psychoneuroendocrinology 25 : 37-51, 2000.
PubMed
23) Tanrikut C, et al : Adverse effect of paroxetine on sperm. Fertil Steril 94 : 1021-1026, 2010.
PubMed
24) Maier U, Koinig G : Andrological findings in young patients under long-term antidepressive therapy with clomipramine. Psychopharmacology (Berl) 116 : 357-359, 1994.
PubMed
25) Montejo AL : Incidence of sexual dysfunction associated with antidepressant agents : a prospective multicenter study of 1022 outpatients. Spanish Working Group for the Study of Phychotropic-Ralated Sexual Dysfunction. J Clin Psychiatry 62 (Suppl 3) : 10-21, 2001.
 
26) Levin RM, et al : Effects of psychotropic drugs on human sperm motility. Fertil Steril 36 : 503-506, 1981,
PubMed
27) Ko DT, et al : Beta-blocker therapy and symptoms of depression, fatigue, and sexual dysfunction. JAMA 288 : 351-357, 2002.
PubMed
28) Perez-Stable EJ, et al : Comparison of a lifestyle modification program with propranolol use in the management of diastolic hypertension. J Gen Intern Med 10 : 419-428, 1995.
PubMed
29) White DR, et al : Complementary effects of propranolol and nonoxynol-9 upon human sperm motility. Contraception 52 : 241-247, 1995.
PubMed
30) Caminos-Torres R, et al : Gynecomastia and semen abnormalities induced by spironolactone in normal men. J Clin Endocrinol Metab 45 : 255-260, 1977.
 
31) Li LJ, et al : Human sperm devoid of germinal angiotensin-converting enzyme is responsible for total fertilization failure and lower fertilization rates by conventional in vitro fertilization. Biol Reprod 90 : 125, 2014.
PubMed
32) Morakinyo AO, et al : Antifertility effect of calcium channel blockers on male rats : association with oxidative stress. Adv Med Sci 56 : 95-105, 2011.
PubMed
33) Li L, et al : Pharmacological investigation of voltage-dependent Ca2+ channels in human ejaculatory sperm in vitro. J Huazhong Univ Sci Technolog Med Sci 26 : 607-609, 2006.
PubMed
34) Katsoff D, Check JH : A challenge to the concept that the use of calcium channel blockers causes reversible male infertility. Hum Reprod 12 : 1480-1482, 1997.
 
35) Baker HW, et al : A controlled trial of the use of erythromycin for men with asthenospermia. Int J Androl 7 : 383-388, 1984.
PubMed
36) Hargreaves CA, et al : Effects of co-trimoxazole, erythromycin, amoxycillin, tetracycline and chloroquine on sperm function in vitro. Hum Reprod 13 : 1878-1886, 1998.
PubMed
37) Schlegel PN, et al : Antibiotics : potential hazards to male fertility. Fertil Steril 55 : 235-242, 1991.
PubMed
38) Timmermans L : Influence of antibiotics on spermatogenesis. J Urol 112 : 348-349, 1974.
PubMed
39) Schlegel PN, et al : Antibiotics : potential hazards to male fertility. Fertil Steril 55 : 235-242, 1991.
PubMed
40) Pont A, et al : Ketoconazole blocks testosterone synthesis. Arch Intern Med 142 : 2137-2140, 1982.
PubMed
41) Boekelheide K : Mechanisms of toxic damage to spermatogenesis. J Natl Cancer Inst Monogr (34) : 6-8, 2005.
PubMed
42) De Mas P, et al : Increased aneuploidy in spermatozoa from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin. Hum Reprod 16 : 1204-1208, 2001.
PubMed
43) Brydoy M, et al : Sperm counts and endocrinological markers of spermatogenesis in long-term survivors of testicular cancer. Br J Cancer 107 : 1833-1839, 2012.
PubMed
44) Wiechno P, et al : The quality of life and hormonal disturbances in testicular cancer survivors in cisplatin era. Eur Urol 52 : 1448-1454, 2007.
PubMed
45) da Cunha MF, et al : Recovery of spermatogenesis after treatment for Hodgkin's disease : limiting dose of MOPP chemotherapy. J Clin Oncol 2 : 571-577, 1984.
PubMed
46) Bujan L, et al : Impact of lymphoma treatments on spermatogenesis and sperm deoxyribonucleic acid : a multicenter prospective study from the CECOS network. Fertil Steril 102 : 667-674. e3, 2014.
 
47) Rivkees SA, Crawford JD : The relationship of gonadal activity and chemotherapy-induced gonadal damage. JAMA 259 : 2123-2125, 1988.
PubMed
48) Eghbali H, Papaxanthos-Roche A : The impact of lymphoma and treatment on male fertility. Expert Rev Hematol 3 : 775-788, 2010.
PubMed
49) Meistrich ML, et al : Hormonal suppression for fertility preservation in males and females. Reproduction 136 : 691-701, 2008.
PubMed
50) Gambacorti-Passerini C, et al : Gynaecomastia in men with chronic myeloid leukaemia after imatinib. Lancet 361 : 1954-1956, 2003.
PubMed
P.127 掲載の参考文献
1) 伊藤理廣, 峯岸敬 : LH/FSH. 臨床検査 52 (増刊号) : 1193-1196, 2008.
 
2) 岩本晃明, ほか : 日本人成人男子の総テストステロン, 遊離テストステロンの基準値の設定. 日本泌尿器科学会雑誌 95 : 751-760, 2004.
 
3) Styne DM : New aspects in the diagnosis and treatment of pubertal disorders. Pediatr Clin North Am 44 : 505-529, 1997.
PubMed

VI 女性性機能

P.133 掲載の参考文献
1) Topaloglu AK : Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. J Clin Res Pediatr Endocrinol 9 : 113-122, 2017.
PubMed
2) Meczekalski B, et al : Functional hypothalamic amenorrhea : current view on neuroendocrine aberrations. Gynecol Endocrinol 24 : 4-11, 2008.
PubMed
3) Welt CK, et al : Recombinant human leptin in women with hypothalamic amenorrhea. N Engl J Med 351 : 987-997, 2004.
PubMed
4) Tolle V, et al : Balance in ghrelin and leptin plasma levels in anorexia nervosa patients and constitutionally thin women. J Clin Endocrinol Metab 88 : 109-116, 2003.
PubMed
5) Caronia LM, et al : A genetic basis for functional hypothalamic amenorrhea. N Engl J Med 364 : 215-225, 2011.
PubMed
P.138 掲載の参考文献
1) Coulam CB, et al : Evidence for a genetic factor in the etiology of premature ovarian failure. Fertil Steril 40 : 693-695, 1983.
PubMed
2) Ebrahimi M, Akbari Asbagh F : The role of autoimmunity in premature ovarian failure. Iran J Reprod Med 13 : 461-472, 2015.
PubMed
3) Komorowska B : Autoimmune premature ovarian failure. Prz Menopauzalny 15 : 210-214, 2016.
PubMed
4) Cordts EB, et al : Genetic aspects of premature ovarian failure : a literature review. Arch Gynecol Obstet 283 : 635-643, 2011.
PubMed
5) Qin Y, et al : ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure. Orphanet J Rare Dis 7 : 5, 2012.
PubMed
6) Loren AW, et al : Fertility preservation for patients with cancer : American Society of Clinical Oncology clinical practice guideline update. J Clin Oncol 31 : 2500-2510, 2013.
 
7) Chapman C, et al : The genetics of premature ovarian failure : current perspectives. Int J Womens Health 7 : 799-810, 2015.
PubMed
8) Fortuno C, Labarta E : Genetics of primary ovarian insufficiency : a review. J Assist Reprod Genet 31 : 1573-1585, 2014.
PubMed
9) Persani L, et al : Genes involved in human premature ovarian failure. J Mol Endocrinol 45 : 257-279, 2010.
PubMed
P.141 掲載の参考文献
1) Nelson LM, et al : Premature ovarian failure. In : Reproductive Endocrinology, Surgery and Technology (ed by Adashi EY, et al), p1393-1410, Lippincott-Raven, New York, 1995.
 
2) Anasti JN : Premature ovarian failure : an update. Fertil Steril 70 : 1-15, 1998.
PubMed
3) 産科婦人科用語集・用語解説集 (日本産科婦人科学会編), 金原出版, 2003.
 
4) 鎌田正晴, ほか : 自己免疫性早発閉経. 産婦人科の実際 49 : 369-374, 2000.
 
5) Hoek A, et al : Premature ovarian failure and ovarian autoimmunity. Endocr Rev 18 : 107-134, 1997.
PubMed
6) Goswami D, Conway GS : Premature ovarian failure. Hum Reprod Update 11 : 391-410, 2005,
PubMed
7) Perheentupa J : APS-I/APECED : the clinical disease and therapy. Endocrinol Metab Clin North Am 31 : 295-320, 2002.
PubMed
8) Forges T, et al : Autoimmunity and antigenic targets in ovarian pathology. Hum Reprod Update 10 : 163-175, 2004.
PubMed
9) Rebar RW : Hypergonadotropic amenorrhea and premature ovarian failure : a review. J Reprod Med 27 : 179-186, 1982.
PubMed
10) Tsirigotis M : Benign thymoma and resistant ovary syndrome. Br J Obstet Gynaecol 101 : 350-352, 1994.
PubMed
11) Anderson MS, et al : Projection of an immunological self shadow within the thymus by the aire protein. Science 298 : 1395-1401, 2002.
PubMed
12) Bagavant H, et al : Autoimmune ovarian inflammation triggered by proinflammatory (Th1) T cells is compatible with normal ovarian function in mice. Biol Reprod 61 : 635-642, 1999.
PubMed
13) Nishizuka Y, Sakakura T : Thymus and reproduction : sex-linked dysgenesia of the gonad after neonatal thymectomy in mice. Science 166 : 753-755, 1969.
PubMed
14) Alard P, et al : Endogenous oocyte antigens are required for rapid induction and progression of autoimmune ovarian disease following day-3 thymectomy. J Immunol 166 : 4363-4369, 2001.
PubMed
15) van Kasteren YM, et al : Corticosteroids do not influence ovarian responsiveness to gonadotropins in patients with premature ovarian failure : a randomized, placebo-controlled trial. Fertil Steril 71 : 90-95, 1999.
PubMed
P.151 掲載の参考文献
1) Coulam CB, et al : Incidence of premature ovarian failure. Obstet Gynecol 67 : 604-606, 1986.
PubMed
2) Ishizuka B, et al : Cross-sectional community survey of menopause symptoms among Japanese women. Maturitas 61 : 260-267, 2008.
PubMed
3) Suka M, et al : Self-assessed health and menopausal symptoms among 50-year-old Japanese women : cross-sectional surveys in Northern Kawasaki in 1998 and 2008. Menopause 17 : 166-173, 2010.
PubMed
4) Bidet M, et al : Resumption of ovarian function and pregnancies in 358 patients with premature ovarian failure. J Clin Endocrinol Metab 96 : 3864-3872, 2011.
PubMed
5) Podfigurna-Stopa A, et al : Premature ovarian insufficiency : the context of long-term effects. J Endocrinol Invest 39 : 983-990, 2016.
PubMed
6) Shuster LT, et al : Premature menopause or early menopause : long-term health consequences. Maturitas 65 : 161-166, 2010.
 
7) Rocca WA, et al : Survival patterns after oophorectomy in premenopausal women : a population-based cohort study. Lancet Oncol 7 : 821-828, 2006.
PubMed
8) Yorgun H, et al : The cardiovascular effects of premature ovarian failure. Int J Cardiol 168 : 506-510, 2013.
PubMed
9) Kalantaridou SN, et al : Impaired endothelial function in young women with premature ovarian failure : normalization with hormone therapy. J Clin Endocrinol Metab 89 : 3907-3913, 2004.
PubMed
10) Goldmeier S, et al : Cardiovascular autonomic dysfunction in primary ovarian insufficiency : clinical and experimental evidence. Am J Transl Res 6 : 91-101, 2013.
PubMed
11) Schnatz PF : The 2010 North American Menopause Society position statement : Updates on screening, prevention and management of postmenopausal osteoporosis. Conn Med 75 : 485-487, 2011.
PubMed
12) Lana MB, et al : What is really responsible for bone loss in spontaneous premature ovarian failure? A new enigma. Gynecol Endocrinol 26 : 755-759, 2010.
PubMed
13) Bakhsh H, et al : Premature ovarian insufficiency in young girls : repercussions on uterine volume and bone mineral density. Gynecol Endocrinol 31 : 65-69, 2015.
PubMed
14) Uygur D, et al : Bone loss in young women with premature ovarian failure. Arch Gynecol Obstet 273 : 17-19, 2005.
PubMed
15) Leite-Silva P, et al : Factors associated with bone density in young women with karyotypically normal spontaneous premature ovarian failure. Arch Gynecol Obstet 280 : 177-181, 2009.
PubMed
16) Rocca WA, et al : Increased risk of cognitive impairment or dementia in women who underwent oophorectomy before menopause. Neurology 69 : 1074-1093, 2007.
 
17) Nappi RE, et al : Memory functioning at menopause : impact of age in ovariectomized women. Gynecol Obstet Invest 47 : 29-36, 1999.
PubMed
18) Bove R, et al : Age at surgical menopause influences cognitive decline and Alzheimer pathology in older women. Neurology 82 : 222-229, 2014.
PubMed
19) European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI, et al : ESHRE Guideline : management of women with premature ovarian insufficiency. Hum Reprod 31 : 926-937, 2016.
 
20) Kawamura K, et al : Hippo signaling disruption and Akt stimulation of ovarian follicles for infertility treatment. Proc Natl Acad Sci USA 110 : 17474-17479, 2013.
PubMed
21) Kawarnura K, et al : Ovary transplantation : to activate or not to activate. Hum Reprod 30 : 2457-2460, 2015.
 
22) Bernard V, et al : Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod 31 : 782-788, 2016.
PubMed
23) Tucker EJ et al : Premature Ovarian Insufficiency : New Perspectives on Genetic Cause and Phenotypic Spectrum. Endocr Rev 37 : 609-635, 2016.
PubMed
24) Takae S, et al : Analysis of late-onset ovarian insufficiency after ovarian surgery : retrospective study with 75 patients of post-surgical ovarian insufficiency. PLoS ONE 9 : e98174, 2014.
PubMed
P.156 掲載の参考文献
1) 日本産科婦人科学会 (編) : 産科婦人科用語集・用語解説集 [改訂第4版], 日本産科婦人科学会, 2018.
 
2) 日本産科婦人科学会, 日本産婦人科医会 (編) : 産婦人科診療ガイドライン-婦人科外来編 2017, 日本産科婦人科学会, 2017.
 
3) 松本清一, 北村邦夫 : 思春期婦人科外来-診療・ケアの基本から実際まで, p45-48, 文光堂, 2004.
 
4) 中村幸雄, ほか : 18歳以下の続発性無月経に関するアンケート調査 : 第1度無月経と第2度無月経の比較を中心として. 日本産科婦人科学会雑誌 51 : 755-761, 1999.
 
P.161 掲載の参考文献
1) 綾部琢哉 : 機能性卵巣嚢胞, 良性卵巣腫瘤. 臨床婦人科産科 60 : 1482-1485, 2006.
 
2) 生水真紀夫 : 機能性卵巣嚢胞. 日本産科婦人科学会関東連合地方部会会誌 47 : 299, 2010.
 
3) 卵巣腫瘍・卵管癌・腹膜癌取扱い規約 (病理編) (日本産科婦人科学会・日本病理学会編), p56-57, 金原出版, 2016.
 
4) ESHRE Capri Workshop Group : Ovarian and endometrial function during hormonal contraception. Hum Reprod 16 : 1527-1535, 2001.
 
5) 日本産科婦人科学会, 日本産婦人科医会 (編) : 産婦人科診療ガイドライン-婦人科外来編 2017, p99-105, 日本産科婦人科学会, 2017.
 
6) 秦幸吉 : 卵巣腫瘍の超音波診断. 日本産科婦人科学会雑誌 59 : N94-105, 2007.
 
7) 落合和徳 : 卵巣腫瘍の診断, とくに臓器診断と良悪性の鑑別. 卵巣腫瘍のすべて, 92-127, メジカルビュー社, 2006.
 
8) Morrow CP, Curtin Jp : Tumors of the ovary : Classification : The adnexal mass. In : Synopsis of Gynecologic Oncology, 5th ed (ed by Morrow CP, Curtin JP), p215-232, Churchill Livingstone, Philadelphia, 1998.
 
9) 日本女性医学学会 (編) : 女性医学ガイドブック (思春期・性成熟期編) [2016年度版], p152-153, 金原出版, 2016.
 
10) 日本超音波医学会用語・診断基準委員会 : 卵巣腫瘤のエコーパターン分類の公示について. 超音波医学 27 : 912-914, 2000.
 
P.165 掲載の参考文献
1) Lu KH : Hereditary gynecologic cancers : differential diagnosis, surveillance, management and surgical prophylaxis. Fam Cancer 7 : 53-58, 2008.
PubMed
2) Hirasawa A, et al : Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. Oncotarget 8 : 112258-112267, 2017.
PubMed
3) Miki Y, et al : A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266 : 66-71, 1994.
 
4) Mavaddat N, et al : Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers : results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 21 : 134-147, 2012.
 
5) Kuchenbaecker KB, et al : Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA 317 : 2402-2416, 2017.
PubMed
6) Norquist BM, et al : Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol 2 : 482-490, 2016.
PubMed
7) Rebbeck TR, et al : Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 313 : 1347-1361, 2015.
PubMed
8) Cass I, et al : Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 97 : 2187-2195, 2003.
PubMed
9) Bolton KL, et al : Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA 307 : 382-390, 2012.
PubMed
10) Sun C, et al : The role of BRCA status on the prognosis of patients with epithelial ovarian cancer : a systematic review of the literature with a meta-analysis. PLoS ONE 9 : e95285, 2014.
PubMed
11) Ledermann J, et al : Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. N Engl J Med 366 : 1382-1392, 2012.
PubMed
12) Ledermann J, et al : Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer : a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol 15 : 852-861, 2014.
 
13) Pujade-Lauraine E, et al : Olaparib tablets as maintenance therapy in patients with platinumsensitive, relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21) : a double-blind, randomised, placebo-controlled, phase 3 trial. Lancet Oncol 18 : 1274-1284, 2017.
 
14) Domchek SM, et al : Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304 : 967-975, 2010.
 
15) Cohen SA, Leininger A : The genetic basis of Lynch syndrome and its implications for clinical practice and risk management. Appl Clin Genet 7 : 147-158, 2014.
PubMed
16) Lynch HT, et al : Hereditary ovarian carcinoma : heterogeneity, molecular genetics, pathology, and management. Mol Oncol 3 : 97-137, 2009.
PubMed
17) Shia J : Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 10 : 293-300, 2008.
PubMed
18) Walsh T, et al : Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 108 : 18032-18037, 2011.
PubMed
19) Venkitaraman AR : A growing network of cancer-susceptibility genes. N Engl J Med 348 : 1917-1919, 2003.
 
20) Pennington KP, et al : Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res 20 : 764-775, 2014.
PubMed
P.170 掲載の参考文献
1) 久保田俊郎 : 症例から学ぶ婦人科腫瘍学 2) 卵巣病変 ホルモン産生卵巣腫瘍. 日本産科婦人科学会雑誌 57 : N199-203, 2005.
 
2) 大石善丈 : 性索間質性腫瘍 : 顆粒膜・間質細胞腫瘍. 腫瘍病理鑑別診断アトラス : 卵巣腫瘍 (本山悌一, 坂本穆彦編), p75-86, 文光堂, 2012.
 
3) Lappohn RE, et al : Inhibin as a marker for granulosa-cell tumors. N Engl J Med 321 : 790-793, 1989.
PubMed
4) Sakamoto S, et al : Increased serum level of inhibin causes amenorrhea in a granulosa cell tumor patient. Acta Obstet Gynecol Scand 77 : 243-244, 1998.
 
5) Lippman ME, et al : Indicators of lifetime estrogen exposure : effect on breast cancer incidence and interaction with raloxifene therapy in the multiple outcomes of raloxifene evaluation study participants. J Clin Oncol 19 : 3111-3116, 2001.
 
6) Roth LM, et al : Sertoli-Leydig cell tumors : a clinicopathologic study of 34 cases. Cancer 48 : 187-197, 1981.
PubMed
7) Colombo N, et al : Management of ovarian stromal cell tumors. J Clin Oncol 25 : 2944-2951, 2007.
PubMed
8) 性索間質性腫瘍. 卵巣がん治療ガイドライン [2015年版] (日本婦人科腫瘍学会編), p181-187, 金原出版, 2015.
 
9) Zhang M, et al : Prognostic factors responsible for survival in sex cord stromal tumors of the ovary-an analysis of 376 women. Gynecol Oncol 104 : 396-400, 2007.
PubMed
10) Turunen A : Hormonal secretion of Krugenberg tumours. Acta Endocrinol (Copenh) 20 : 50-56, 1955.
PubMed
11) 山片重房, ほか : 上皮性卵巣腫瘍のエストロゲン産生能に関する研究 : 閉経婦人における臨床内分泌学的検討. 日本産科婦人科学会雑誌 41 : 1761-1768, 1989.
 
P.175 掲載の参考文献
1) 日本産科婦人科学会 (編) : 産科婦人科用語集・用語解説集 [改訂第3版], 日本産科婦人科学会, 2013.
 
2) 田坂慶一 : クリニカルカンファレンス (生殖内分泌領域) : 2. 思春期の女性医学 1) 原発無月経. 日本産科婦人科学会雑誌 59 : N446-449, 2007.
 
3) 三宅侃, ほか : 原発性無月経の原因. 産婦人科の進歩 43 : 452-454, 1991.
 
4) Simpson JL : Disorders of the gonads, genital tract, and genitalia. In : Emery and Rimoin's Principles and Practice of Medical Genetics, 3rd ed (ed by Rimoin DL, et al), p1477-1500, Churchill Livingstone, Edinburgh, 1997.
 
5) Simpson ER, et al : Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis. Endocr Rev 15 : 342-355, 1994.
PubMed
6) 日本小児内分泌学会薬事委員会 : ターナー症候群におけるエストロゲン補充療法ガイドライン. 日本小児科学会雑誌 112 : 1048-1050, 2008.
 
7) 新女性医学大系 4. 女性の症候学 (河上征治編, 武谷雄二総編集), p15-37, 中山書店, 1998.
 
8) 日本産科婦人科学会 (編) : 産婦人科研修の必修知識 2016-2018, p42, 日本産科婦人科学会, 2016.
 
9) Carrascosa A, et al : Spontaneous, but not induced, puberty permits adequate bone mass acquisition in adolescent Turner syndrome patients. J Bone Miner Res 15 : 2005-2010, 2000.
 
P.180 掲載の参考文献
1) Kinoshita M, et al : Involvement of central metastin in the regulation of preovulatory luteinizing hormone surge and estrous cyclicity in female rats. Endocrinology 146 : 4431-4436, 2005.
PubMed
2) Iwasa T, et al : Effects of low energy availability on reproductive functions and their underlying neuroendocrine mechanisms. J Clin Med 7. pii : E166, 2018.
 
3) Elliott-Sale KJ, et al : Endocrine Effects of Relative Energy Deficiency in Sport. Int J Sport Nutr Exerc Metab 28 : 335-349, 2018.
PubMed
4) 鈴木 (堀田) 眞理 : 摂食障害の救急治療と再栄養時のrefeeding症候群. 日本内科学会雑誌 105 : 676-682, 2016.
 
5) Sonigo C, et al : Hyperprolactinemia-induced ovarian acyclicity is reversed by kisspeptin administration. J Clin Invest 122 : 3791-3795, 2012.
PubMed
6) 高井泰 : Turner症候群のホルモン補充療法は何歳からどのように行う? 女性内分泌クリニカルクエスチョン 90 (百枝幹雄編), p22-23, 診断と治療社, 2017.
 
7) Hekimsoy Z, et al : The prevalence of hyperprolactinaemia in overt and subclinical hypothyroidism. Endocr J 57 : 1011-1015, 2010.
PubMed
8) 綾部琢哉 : 無月経の病態と診断. 基礎からわかる女性内分泌 (百枝幹雄編), p132-134, 診断と治療社, 2016.
 
9) 生殖・内分泌委員会報告 : 思春期における続発無月経の病態と治療に関する小委員会 (平成9年度～10年度検討結果報告). 日本産科婦人科学会雑誌 51 : 755-761, 1999.
 
10) Barbieri RL : Hormone treatment of endometriosis : the estrogen threshold hypothesis. Am J Obstet Gynecol 166 : 740-745, 1992.
PubMed
P.186 掲載の参考文献
1) O'Brien S, et al : Premenstrual syndrome. Menopause Int 18 : 39-40, 2012.
PubMed
2) Frank RT : The hormonal causes of premenstrual tension. Arch Neurol Psychiatry 26 : 1053-1057, 1931.
 
3) Greene R, Dalton K : The premenstrual syndrome. Br Med J 1 : 1007-1014, 1953.
PubMed
4) 日本精神神経学会 (日本語版用語監修) : DSM-5 精神疾患の診断・統計マニュアル (高橋三郎, 大野裕監訳), 医学書院, 2014.
 
6) American College of Obstetricians and Gynecologists (ACOG) : Premenstrual syndrome. In : Guidelines for Women's Health Care, 4th ed, ACOG, Washington, DC, 2014.
 
7) Nevatte T, et al : ISPMD consensus on the management of premenstrual disorders, Arch Womens Ment Health 16 : 279-291, 2013.
PubMed
8) Ismaili E, et al : Fourth consensus of the International Society for Premenstrual Disorders (ISPMD) : auditable standards for diagnosis and management of premenstrual disorder. Arch Womens Ment Health 19 : 953-958, 2016.
 
9) Management of Premenstrual Syndrome : Green-top Guideline No. 48. BJOG 124 : e73-e105, 2017.
PubMed
10) Yonkers KA, et al : Premenstrual disorders. Am J Obstet Gynecol 218 : 68-74, 2018.
PubMed
11) Takeda T, et al : Prevalence of premenstrual syndrome and premenstrual dysphoric disorder in Japanese women. Arch Womens Ment Health 9 : 209-212, 2006.
PubMed
12) Schmidt PJ, et al : Premenstrual Dysphoric Disorder Symptoms Following Ovarian Suppression : Triggered by Change in Ovarian Steroid Levels But Not Continuous Stable Levels. Am J Psychiatry 174 : 980-989, 2017.
PubMed
13) Backstrom T, et al : Paradoxical effects of GABA-A modulators may explain sex steroid induced negative mood symptoms in some persons. Neuroscience 191 : 46-54, 2011.
 
14) Comasco E, et al : Neuroimaging the Menstrual Cycle and Premenstrual Dysphoric Disorder. Curr Psychiatry Rep 17 : 77, 2015.
PubMed
15) 日本女性心身医学会 (編) : 月経前症候群 (PMS). 最新女性心身医学, ぱーそん書房, 2015.
 
16) Steiner M, et al : The premenstrual symptoms screening tool (PSST) for clinicians. Arch Womens Ment Health 6 : 203-209, 2003.
PubMed
17) 相良洋子 : 月経随伴症状に対する心身医学的対応. 心身医学 49 : 1163-1170, 2009.
Medical*Online
18) 川瀬良美, ほか : 月経前症状の即時的記録法の検討 : PMSメモリーの開発. 女性心身医学 5 : 31-37, 2000.
 
19) Endicott J, et al : Daily Record of Severity of Problems (DRSP) : reliability and validity. Arch Womens Ment Health 9 : 41-49, 2006.
PubMed
20) Pinkerton JV, et al : Menstrual cycle-related exacerbation of disease. Am J Obstet Gynecol 202 : 221-231, 2010.
PubMed
21) 山田和男, 神庭重信 : エビデンスに基づいた月経前不快気分障害 (PMDD) の薬物治療ガイドライン. 臨床精神医学 40 : 217-226, 2011.
Medical*Online
22) Sayegh R, et al : The effect of a carbohydrate-rich beverage on mood, appetite, and cognitive function in women with premenstrual syndrome. Obstet Gynecol 86 (4 Pt 1) : 520-528, 1995.
 
23) Hunter MS, et al : A randomized comparison of psychological (cognitive behavior therapy), medical (fluoxetine) and combined treatment for women with premenstrual dysphoric disorder. J Psychosom Obstet Gynaecol 23 : 193-199, 2002.
PubMed
24) 上野友美 : PMS/PMDDの治療法-サプリメント. 産科と婦人科 83 : 1434-1439, 2016.
Medical*Online
25) 小川真里子, 高松潔 : 月経関連症候群と漢方療法. 産婦人科漢方研究のあゆみ (33) : 17-22, 2016.
Medical*Online
26) Lopez LM, et al : Oral contraceptives containing drospirenone for premenstrual syndrome. Cochrane Database Syst Rev (2) : CD006586, 2009.
PubMed
27) Coffee AL, et al : Oral contraceptives and premenstrual symptoms : comparison of a 21/7 and extended regimen. Am J Obstet Gynecol 195 : 1311-1319, 2006.
PubMed
28) Wyatt KM, et al : The effectiveness of GnRHa with and without 'add-back' therapy in treating premenstrual syndrome : a meta analysis. BJOG 111 : 585-593, 2004.
PubMed
5）日本産科婦人科学会, 日本産婦人科医会 : 産婦人科診療ガイドライン-婦人科外来編 2017, 日本産科婦人科学会, 2017.
 
P.191 掲載の参考文献
1) Kjerulff KH, et al : Chronic gynecological conditions reported by US women : findings from the National Health Interview Survey, 1984 to 1992. Am J Public Health 86 : 195-199, 1996.
PubMed
2) American College of Obstetricians and Gynecologists' Committee on Gynecologic Practice : Technology Assessment No. 12 : Sonohysterography. Obstet Gynecol 128 : e38-42, 2016.
 
3) 高橋俊之 : 研修コーナー 不正性器出血. 日本産科婦人科学会雑誌 63 : N-3-N-5, 2011.
 
4) 日本産科婦人科学会 (編) : 産科婦人科用語集・用語解説集 日本産科婦人科学会, 2013.
 
5) 不正性器出血. 研修ノート No. 73, 日本産婦人科医会, 2004.
 
6) 千葉喜英 : 産婦人科超音波診断アトラス, ベクトル・コア, 2004.
 
7) Lete I, et al : Economic evaluation of the levonorgestrel-releasing intrauterine system for the treatment of dysfunctional uterine bleeding in Spain. Eur J Obstet Gynecol Reprod Biol 154 : 71-80, 2011.
PubMed
8) Nouri M, et al : Association of dysfunctional uterine bleeding with high body mass index and obesity as a main predisposing factor. Diabetes Metab Syndr 8 : 1-2, 2014.
PubMed
9) Athanatos D, et al : Novasure impedance control system versus microwave endometrial ablation for the treatment of dysfunctional uterine bleeding : a double-blind, randomized controlled trial. Clin Exp Obstet Gynecol 42 : 347-351, 2015.
PubMed
P.195 掲載の参考文献
1) Hallberg L, et al : Menstrual blood loss-a population study. Variation at different ages and attempts to define normality. Acta Obstet Gynecol Scand 45 : 320-351, 1966.
PubMed
2) Endrikat J, et al : A Canadian, multicentre study comparing the efficacy of a levonorgestrelreleasing intrauterine system to an oral contraceptive in women with idiopathic menorrhagia. J Obstet Gynaecol Can 31 : 340-347, 2009.
 
3) Lethaby A, et al : Antifibrinolytics for heavy menstrual bleeding. Cochrane Database Syst Rev (4) : CD000249, 2000.
 
4) Gupta J, et al : Levonorgestrel intrauterine system versus medical therapy for menorrhagia. N Engl J Med 368 : 128-137, 2013.
PubMed
5) Lee BS, et al : Levonorgestrel-releasing intrauterine system versus conventional medical therapy for heavy menstrual bleeding in the Asia-Pacific region. Int J Gynaecol Obstet 121 : 24-30, 2013.
 
6) Qiu J, et al : Levonorgestrel-releasing intrauterine system versus medical therapy for menorrhagia : a systematic review and meta-analysis. Med Sci Monit 20 : 1700-1713, 2014.
PubMed
7) James AH, et al : Evaluation and management of acute menorrhagia in women with and without underlying bleeding disorders : consensus from an international expert panel. Eur J Obstet Gynecol Reprod Biol 158 : 124-134, 2011.
 
8) Haynes PJ, et al : Measurement of menstrual blood loss in patients complaining of menorrhagia. Br J Obstet Gynaecol 84 : 763-768, 1977.
PubMed
9) Lethaby A, et al : Endometrial resection and ablation techniques for heavy menstrual bleeding. Cochrane Database Syst Rev (8) : CD001501, 2013.
PubMed
10) Fergusson RJ A, et al : Endometrial resection and ablation versus hysterectomy for heavy menstrual bleeding. Cochrane Database Syst Rev (11) : CD000329, 2013.
 
11) Laberge PY : Serious and deadly complications from pregnancy after endometrial ablation : two case reports and review of the literature. J Gynecol Obstet Biol Reprod (Paris) 37 : 609-613, 2008.
PubMed
12) 中山健太郎, ほか : 過多月経に対する外科治療について-マイクロ波子宮内膜アブレーション (microwave endometrial ablation : MEA) 導入後の検討-. Journal of Microwave Surgery 29 : 63-67, 2011.
Medical*Online
13) Nakayama K, et al : Microwave endometrial ablation at a frequency of 2.45 GHz for menorrhagia : analysis of treatment results at a single facility. J Obstet Gynaecol Res 40 : 224-229, 2014.
 
14) Nakamura K, et al : Long-term outcomes of microwave endometrial ablation for treatment of patients with menorrhagia : A retrospective cohort study. Oncol Lett 14 : 7783-7790, 2017.
PubMed
15) Nakayama K, et al : Microwave endometrial ablation is a highly efficacious way to emergently control life-threatening uterine hemorrhage. Arch Gynecol Obstet 283 : 1065-1068, 2011.
PubMed
16) Torre A, et al : Uterine artery embolization for severe symptomatic fibroids : effects on fertility and symptoms. Hum Reprod 29 : 490-501, 2014.
PubMed
P.200 掲載の参考文献
1) 働く女性の身体と心を考える委員会 :月経痛. 働く女性の健康に関する実態調査結果. 働く女性の身体と心を考える委員会報告書, p21-22, 財団法人女性労働協会, 2004.
 
2) Powell AM, et al : Menstrual-PGF2 alpha, PGE2 and TXA2 in normal and dysmenorrheic women and their temporal relationship to dysmenorrhea. Prostaglandins 29 : 273-290, 1985.
PubMed
3) 日本産科婦人科学会, 日本産婦人科医会 (編) : CQ304 : 機能性月経困難症の治療は? 産婦人科診療ガイドライン-婦人科外来編 2017, p143-144, 日本産科婦人科学会事務局, 2017.
 
4) Harada T, et al : Low-dose oral contraceptive pill for dysmenorrhea associated with endometriosis : a placebo-controlled, double-blind, randomized trial. Fertil Steril 90 : 1583-1588, 2008.
PubMed
5) Osuga Y, et al : Evaluation of the efficacy and safety of dienogest in the treatment of painful symptoms in patients with adenomyosis : a randomized, double-blind, multicenter, placebo-controlled study. Fertil Steril 108 : 673-678, 2017.
PubMed
P.206 掲載の参考文献
1) 日本産科婦人科学会, 日本産婦人科医会 (編) : 産婦人科診療ガイドライン-婦人科外来編 2017, p186-191, 日本産科婦人科学会, 2017.
 
2) Melmed S, et al : Diagnosis and treatment of hyperprolactinemia : an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 96 : 273-288, 2011.
PubMed
3) Molitch M : Prolactin in Human Reproduction. In : Yen & Jaffe's Reproductive Endocrinology, 7th ed (ed by Strauss J, Barbieri R), p45-65, Elsevier Saunders, Philadelphia 2013.
 
4) 今井文晴, ほか : 高プロラクチン血症の治療. 産婦人科の実際 63 (増刊号) : 1663-1674, 2014.
 
5) 徳井貴子, ほか : 高プロラクチン血症と妊娠. ホルモンと臨床 62 : 547-551, 2014.
 
6) 倉智敬一, ほか : 我が国における高プロラクチン血症症例の実態. 臨床科学 17 : 369-375, 1981.
 
7) 金崎春彦 : 高プロラクチン血症の診断と治療は? EBM婦人科疾患の治療 2013-2014 (杉山徹編), p107-113, 中外医学社, 2013.
 
8) Huang W, Molitch ME : Evaluation and management of galactorrhea. Am Fam Physician 85 : 1073-1080, 2012.
PubMed
9) Casanueva FF, et al : Guidelines of the Pituitary Society for the diagnosis and management of prolactinomas. Clin Endocrinol (Oxf) 65 : 265-273, 2006.
PubMed
10) Webster J, et al : Dose-dependent suppression of serum prolactin by cabergoline in hyperprolactinaemia : a placebo controlled, double blind, multicentre study. European Multicentre Cabergoline Dose-finding Study Group. Clin Endocrinol (Oxf) 37 : 534-541, 1992.
 
11) Colao A, et al : Macroprolactinoma shrinkage during cabergoline treatment is greater in naive patients than in patients pretreated with other dopamine agonists : a prospective study in 110 patients. J Clin Endocrinol Metab 85 : 2247-2252, 2000.
PubMed
12) Gillam MP, et al : Advances in the treatment of prolactinomas. Endocr Rev 27 : 485-534, 2006.
PubMed
P.209 掲載の参考文献
1) Moran C, et al : Relationship between insulin resistance and gonadotropin dissociation in obese and nonobese women with polycystic ovary syndrome. Fertil Steril 80 : 1466-1472, 2003.
PubMed
2) Thompson IR, Kaiser UB : GnRH pulse frequency-dependent differential regulation of LH and FSH gene expression. Mol Cell Endocrinol 385 : 28-35, 2014.
PubMed
3) Pastor CL, et al : Polycystic ovary syndrome : evidence for reduced sensitivity of the gonadotropin-releasing hormone pulse generator to inhibition by estradiol and progesterone. J Clin Endocrinol Metab 83 : 582-590, 1998.
PubMed
4) Chang RJ, et al : Insulin resistance in nonobese patients with polycystic ovarian disease. J Clin Endocrinol Metab 57 : 356-359, 1983.
PubMed
5) Gonzalez F, et al : Reactive oxygen species-induced oxidative stress in the development of insulin resistance and hyperandrogenism in polycystic ovary syndrome. J Clin Endocrinol Metab 91 : 336-340, 2006.
PubMed
6) Talbot JA, et al : Molecular scanning of the insulin receptor gene in women with polycystic ovarian syndrome. J Clin Endocrinol Metab 81 : 1979-1983, 1996.
PubMed
7) Samoto T, et al : Altered expression of insulin and insulin-like growth factor-I receptors in follicular and stromal compartments of polycystic ovaries. Endocr J 40 : 413-424, 1993.
PubMed
8) Thierry van Dessel HJ, et al : Elevated serum levels of free insulin-like growth factor I in polycystic ovary syndrome. J Clin Endocrinol Metab 84 : 3030-3035, 1999.
PubMed
9) Cataldo NA : Insulin-like growth factor binding proteins : do they play a role in polycystic ovary syndrome? Semin Reprod Endocrinol 15 : 123-136, 1997.
PubMed
10) Kelly CJ, et al : Insulin-like growth factor binding protein-1 in PCOS : a systematic review and meta-analysis. Hum Reprod Update 17 : 4-16, 2011.
PubMed
11) El Hayek S, et al : Poly Cystic Ovarian Syndrome : An Updated Overview. Front Physiol 7 : 124, 2016.
PubMed
12) 日本産科婦人科学会 生殖・内分泌委員・会 : 委員会報告のうち統一見解とした事項-本邦における多嚢胞性卵巣症候群の新しい診断基準. 日本産科婦人科学会雑誌 59 : 1131, 2007.
 
13) 岩下光利 : PCOSとインスリン抵抗性改善薬. 産科と婦人科 74 : 397-403, 2007.
Medical*Online
14) Nugent D, et al : Gonadotrophin therapy for ovulation induction in subfertility associated with polycystic ovary syndrome. Cochrane Database Syst Rev (4) : CD000410, 2000.
PubMed
15) Farquhar C, et al : Laparoscopic drilling by diathermy or laser for ovulation induction in anovulatory polycystic ovary syndrome. Cochrane Database Syst Rev (6) : CD001122, 2012.
 
P.217 掲載の参考文献
1) Martin KA, et al : Evaluation and Treatment of Hirsutism in Premenopausal Women : An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 103 : 1233-1257, 2018.
PubMed
2) Ferriman D, et al : Clinical assessment of body hair growth in women. J Clin Endocrinol Metab 21 : 1440-1447, 1961.
PubMed
3) Azziz R, et al : Androgen excess in women : experience with over 1000 consecutive patients. J Clin Endocrinol Metab 89 : 453-462, 2004.
PubMed
4) Chen J, et al : Circulating bioactive androgens in midlife women. J Clin Endocrinol Metab 91 : 4387-4394, 2006.
PubMed
5) Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group : Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod 19 : 41-47, 2004.
 
6) Rosenfeld M : The role of proteins in the distribution of plasma androgens and estradiol. In : Androgenization in Women (ed by Molinatti GML, James V), p24-45, Ravens Press, New York, 1983.
 
7) Goldman AL, et al : A Reappraisal of Testosterone's Binding in Circulation : Physiological and Clinical Implications. Endocr Rev 38 : 302-324, 2017.
PubMed
8) Carmina E, et al : Extensive clinical experience : relative prevalence of different androgen excess disorders in 950 women referred because of clinical hyperandrogenism. J Clin Endocrinol Metab 91 : 2-6, 2006.
PubMed
9) Kaltsas GA, et al : The value of the low-dose dexamethasone suppression test in the differential diagnosis of hyperandrogenism in women. J Clin Endocrinol Metab 88 : 2634-2643, 2003.
PubMed
10) Kaltsas GA, et al : Menstrual irregularity in women with acromegaly. J Clin Endocrinol Metab 84 : 2731-2735, 1999.
PubMed
11) Rosner W, et al : Position statement : Utility, limitations, and pitfalls in measuring testosterone : an Endocrine Society position statement. J Clin Endocrinol Metab 92 : 405-413, 2007.
PubMed
12) Hampel H, et al : Severe hirsutism associated with psychopharmacological treatment in major depression. World J Biol Psychiatry 2 : 48-49, 2001.
PubMed
13) Haddad PM, et al : Antipsychotic-induced hyperprolactinaemia : mechanisms, clinical features and management. Drugs 64 : 2291-2314, 2004.
PubMed
14) Rahnema CD, et al : Designer steroids-over-the-counter supplements and their androgenic component : review of an increasing problem. Andrology 3 : 150-155, 2015.
PubMed
15) Escobar-Morreale HF, et al : Epidemiology, diagnosis and management of hirsutism : a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society. Hum Reprod Update 18 : 146-170, 2012.
PubMed
P.220 掲載の参考文献
1) Asherman JG : Amenorrhoea traumatica (atretica). J Obstet Gynaecol Br Emp 55 : 23-30, 1948.
PubMed
2) Schenker JG, Margalioth EJ : Intrauterine adhesions : an updated appraisal. Fertil Steril 37 : 593-610, 1982.
PubMed
3) Friedler S, et al : Incidence of post-abortion intra-uterine adhesions evaluated by hysteroscopy-a prospective study. Hum Reprod 8 : 442-444, 1993.
PubMed
4) Mazzon I, et al : Does cold loop hysteroscopic myomectomy reduce intrauterine adhesions? A retrospective study. Fertil Steril 101 : 294-298. e3, 2014.
 
5) Gambadauro P, et al : Intrauterine Adhesions following Conservative Treatment of Uterine Fibroids. Obstet Gynecol Int 2012 : 853269, 2012.
PubMed
6) Asgari Z, et al : Intrauterine synechiae after myomectomy ; laparotomy versus laparoscopy : Non-randomized interventional trial. Iran J Reprod Med 13 : 161-168, 2015.
PubMed
7) Gupta S, et al : A pilot study of Foley's catheter balloon for prevention of intrauterine adhesions following breach of uterine cavity in complex myoma surgery. Arch Gynecol Obstet 288 : 829-832, 2013.
 
8) Mara M, et al : Hysteroscopy after uterine fibroid embolization : evaluation of intrauterine findings in 127 patients. J Obstet Gynaecol Res 38 : 823-831, 2012.
PubMed
9) 山口龍二 : 子宮卵管造影図譜, p34, 医学書院, 1965.
 
10) Sugimoto O : A Color Atlas of Hysteroscopy, p154-160, Springer-Verlag, Tokyo, 1999.
 
11) The American Fertility Society classifications of adnexal adhesions, distal tubal occiusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, mullerian anomaries and intrauterine adhesions. Fertil Steril 49 : 944-955, 1988.
PubMed
12) Wamsteker K, et al : Diagnostic hysteroscopy : technique and documentation. In : Endoscopic Surgery for gynaecologist, 2nd ed (ed by Sutton C, Diamond M), p511-524, WB Saunders, London, 1998.
 
13) AAGL Advancing Minimally Invasive Gynecology Worldwide : AAGL practice report : practice guidelines for management of intrauterine synechiae. J Minim Invasive Gynecol 17 : 1-7, 2010.
PubMed
14) Jansen FW, et al : Complications of hysteroscopy : a prospective, multicenter study. Obstet Gynecol 96 : 266-270, 2000.
PubMed
15) 林保良 : 子宮鏡の臨床 ABC, p105-111, メジカルビュー社, 2014.
 
16) 東口篤司, ほか : 子宮腔癒着症・子宮中隔-子宮鏡下手術による合併症を防止するための新たな工夫-. 産婦人科の実際 54 : 117-123, 2005.
 
17) Valle RF, Sciarra JJ : Intrauterine adhesions : hysteroscopic diagnosis, classification, treatment, and reproductive outcome. Am J Obstet Gynecol 158 : 1459-1470, 1988.
PubMed
18) Yang JH, et al : Optimal waiting Period for subsequent fertility treatment after various hysteroscopic surgeries. Fertil Steril 99 : 2092-2096. e3, 2013.
 
19) Siegler AM, Valle RF : Therapeutic hysteroscopic procedures. Fertil Steril 50 : 685-701, 1988.
PubMed
P.226 掲載の参考文献
1) Sugiura-Ogasawara M, et al : Frequency of recurrent spontaneous abortion and its influence on further marital relationship and illness : the Okazaki Cohort Study in Japan. J Obstet Gynaecol Res 39 : 126-131, 2013.
PubMed
2) Sugiura-Ogasawara M, et al : Abnormal embryonic karyotype is the most frequent cause of recurrent miscarriage. Hum Reprod 27 : 2297-2303, 2012.
PubMed
3) Branch DW, et al : Clinical practice. Recurrent miscarriage. N Engl J Med 363 : 1740-1747, 2010.
PubMed
4) Cowchock FS, et al : Repeated fetal losses associated with antiphospholipid antibodies : a collaborative randomized trial comparing prednisone with low-dose heparin treatment. Am J Obstet Gynecol 166 : 1318-1323, 1992.
PubMed
5) Rai R, et al : Randomised controlled trial of aspirin and aspirin plus heparin in pregnant women with recurrent miscarriage associated with phospholipid antibodies (or antiphospholipid antibodies). BMJ 314 : 253-257, 1997.
PubMed
6) Sugiura-Ogasawara M, et al : Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertil Steril 81 : 367-373, 2004.
PubMed
7) Franssen MT, et al : Reproductive outcome after chromosome analysis in couples with two or more miscarriages : index [corrected] -control study. BMJ 332 : 759-763, 2006.
 
8) Sugiura-Ogasawara M, et al : Midline uterine defect size is correlated with miscarriage of euploid embryos in recurrent cases. Fertil Steril 93 : 1983-1988, 2010.
PubMed
9) Venetis CA, et al : Clinical implications of congenital uterine anomalies : a meta-analysis of comparative studies. Reprod Biomed Online 29 : 665-683, 2014.
PubMed
10) Ogasawara M, et al : Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril 73 : 300-304, 2000.
 
11) Ogasawara M, et al : Are antinuclear antibodies predictive of recurrent miscarriage? Lancet 347 : 1183-1184, 1996.
PubMed
12) Legro RS, et al : Clomiphene, metformin, or both for infertility in the polycystic ovary syndrome. N Engl J Med 356 : 551-566, 2007.
 
13) Mills JL, et al : Incidence of spontaneous abortion among normal women and insulin-dependent diabetic women whose pregnancies were identified within 21 days of conception. N Engl J Med 319 : 1617-1623, 1988.
PubMed
14) Ober C, et al : Mononuclear-cell immunisation in prevention of recurrent miscarriages : a randomised trial. Lancet 354 : 365-369, 1999.
PubMed
15) Coulam CB, et al : Intravenous immunoglobulin for treatment of recurrent pregnancy loss. Am J Reprod Immunol 34 : 333-337, 1995.
PubMed
P.232 掲載の参考文献
1) 安達知子 : 不妊・不育 エクセルナース [産婦人科編] (太田博明監修), p449-461, メディカルレビュー社, 2002.
 
2) SRL総合検査案内 : 抗ミュラー管ホルモン (AMH). [http://test-guide.srl.info/hachioji/test/detail/004510602] (2018年11月閲覧)
 
3) 日本産科婦人科学会HP : ART登録・調査小委員会, ARTデータブック 2016年. [https://plaza.umin.ac.jp/~jsog-art/] (2018年11月閲覧)
 
4) 日本産科婦人科学会HP : 声明/倫理に関する見解 生殖補助医療実施医療機関の登録と報告に関する見解. 平成26年6月改訂. [http://www.jsog.or.jp/modules/statement/index.php?content_id=6] (2018年11月閲覧)
 
P.237 掲載の参考文献
1) 生殖・内分泌委員会報告. 卵巣過剰刺激症候群 (OHSS) の診断基準ならびに予防法・治療指針の設定に関する小委員会. 日本産科婦人科学会雑誌 54 : 860-868, 2002.
 
2) Binder H, et al : Update on ovarian hyperstimulation syndrome : Part 1-Incidence and pathogenesis. Int J Fertil Womens Med 52 : 11-26, 2007.
PubMed
3) Wang TH, et al : Human chorionic gonadotropin-induced ovarian hyperstimulation syndrome is associated with up-regulation of vascular endothelial growth factor. J Clin Endocrinol Metab 87 : 3300-3308, 2002.
PubMed
4) Smits G, et al : Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. N Engl J Med 349 : 760-766, 2003.
PubMed
5) Miras AD, et al : Ovarian hyperstimulation from ectopic hypersecretion of follicle stimulating hormone. Lancet 385 : 392, 2015.
PubMed
6) Cappa F, et al : [Ascites and hydrothorax due to endogenous hyperstimulation of H. C. G. in a case of hydatidiform mole destruens with secondary irreversible kidney insufficiency due to disseminated intravascular coagulation]. Riv Ital Ginecol 56 : 363-368, 1976.
 
7) Borna S, Nasery A : Spontaneous ovarian hyperstimulation in a pregnant woman with hypothyroidism. Fertil Steril 88 : 705. el-3, 2007.
 
8) 生殖医療の必修知識 2017 (日本生殖医学会編), p378-386, 杏林舎, 2017.
 
9) 生殖・内分泌委員会報告. 卵巣過剰刺激症候群の管理方針と防止のための留意事項. 日本産科婦人科学会雑誌 61 : 1138-1145, 2009.
 
10) Lyons CA, et al : Early and late presentation of the ovarian hyperstimulation syndrome : two distinct entities with different risk factors. Hum Reprod 9 : 792-799, 1994.
PubMed
11) Toftager M, et al : Risk of severe ovarian hyperstimulation syndrome in GnRH antagonist versus GnRH agonist protocol : RCT including 1050 first IVF/ICSI cycles. Hum Reprod 31 : 1253-1264, 2016.
PubMed
12) D'Angelo A, et al : Coasting (withholding gonadotrophins) for preventing ovarian hyperstimulation syndrome. Cochrane Database Syst Rev 5 : CD002811, 2017.
PubMed
13) Palomba S, et al : Effects of metformin in women with polycystic ovary syndrome treated with gonadotrophins for in vitro fertilisation and intracytoplasmic sperm injection cycles : a systematic review and meta-analysis of randomised controlled trials. BJOG 120 : 267-276, 2013.
PubMed
14) Leitao VM, et al : Cabergoline for the prevention of ovarian hyperstimulation syndrome : systematic review and meta-analysis of randomized controlled trials. Fertil Steril 101 : 664-675, 2014.
PubMed
15) Shi Y, et al : Transfer of Fresh versus Frozen Embryos in Ovulatory Women. N Engl J Med 378 : 126-136, 2018.
PubMed
16) Mourad S, et al : Interventions for the prevention of OHSS in ART cycles : an overview of Cochrane reviews. Cochrane Database Syst Rev 1 : CD012103, 2017.
PubMed
17) Koike T, et al : Clinical efficacy of peritoneovenous shunting for the treatment of severe ovarian hyperstimulation syndrome. Hum Reprod 15 : 113-117, 2000.
PubMed
P.242 掲載の参考文献
1) Metzler M : The metabolism of diethylstilbestrol. CRC Crit Rev Biochem 10 : 171-212, 1981.
 
2) Ulfelder H, et al : Stilbestrol-adenosis-carcinoma syndrome : geographic distribution. N Engl J Med 285 : 691, 1971.
PubMed
3) Herbst AL : Stilbestrol and vaginal cancer in young women. CA Cancer J Clin 22 : 292-295, 1972.
PubMed
4) Blatt J, et al : Ovarian carcinoma in an adolescent with transgenerational exposure to diethylstilbestrol. J Pediatr Hematol Oncol 25 : 635-636, 2003.
 
5) Palmer JR, Adam E : Hypospadias in sons of women exposed to diethylstilbestrol in utero. Epidemiology 16 : 583-586, 2005.
 
6) Kaufman RH, et al : Findings in female offspring of women exposed in utero to diethylstilbestrol. Obstet Gynecol 99 : 197-200, 2002.
PubMed
7) 堤治 : DESから学ぶ. 環境生殖学入門, 朝日出版社, p145-154, 2005.
 
8) Reel JR, et al : Survey and assessment of mammalian estrogen biological assays for hazard characterization. Fundam Appl Toxicol 34 : 288-305, 1996.
PubMed
9) Couse JF, et al : Estrogen receptor-alpha knockout mice exhibit resistance to the developmental effects of neonatal diethylstilbestrol exposure on the female reproductive tract. Dev Biol 238 : 224-238, 2001.
 
10) Li S, et al : Environmental exposure, DNA methylation, and gene regulation : lessons from diethylstilbesterol-induced cancers. Ann N Y Acad Sci 983 : 161-169, 2003.
PubMed
11) Brouwers MM, et al : Hypospadias : a transgenerational effect of diethylstilbestrol? Hum Reprod 21 : 666-669, 2006.
PubMed
12) Seki H, et al : A young woman with clear cell adenocarcinoma of the uterine cervix. Int J Clin Oncol 8 : 399-404, 2003.
 
13) Tsutsumi O : Assessment of human contamination of estrogenic endocrine-disrupting chemicals and their risk for human reproduction. J Steroid Biochem Mol Biol 93 : 325-330, 2005.
PubMed
14) Ikezuki Y, et al : Determination of bisphenol A concentrations in human biological fluids reveals significant early prenatal exposure. Hum Reprod 17 : 2839-2841, 2002.
PubMed
15) Todaka E, et al : Fetal exposure to phytoestrogens-the difference in phytoestrogen status between mother and fetus. Environ Res 99 : 195-203, 2005.
PubMed
16) van den Berg M, et al : Protecting the human fetus against effects of bisphenol A. Lancet Diabetes Endocrinol 1 : 87-89, 2013.
PubMed
P.250 掲載の参考文献
1) 日本産科婦人科学会 (編) : 産科婦人科用語集・用語解説集 [改訂第4版], 金原出版, 2018.
 
2) 高松潔 : 更年期不定愁訴のみかた. 日本産科婦人科学会雑誌 56 : N-651-N-659, 2004.
 
3) National Institutes of Health : National Institutes of Health State-of-the-Science Conference statement : management of menopause-related symptoms. Ann Intern Med 142 : 1003-1013, 2005.
PubMed
4) Yokota M, et al : Symptoms and effects of physical factors in Japanese middle-aged women. Menopause 23 : 974-983, 2016.
PubMed
5) Ikeda T, et al : Status of climacteric symptoms among middle-aged to elderly Japanese women : comparison of general healthy women with women presenting at a menopausal clinic. J Obstet Gynaecol Res 31 : 164-171, 2005.
 
6) 高松潔 : 更年期障害. 新老年学 [第3版], p1231-1242, 東京大学出版会, 2010.
 
7) 日本産科婦人科学会生殖・内分泌委員会 : 日本人女性の更年期症状評価表の作成. 日本産科婦人科学会雑誌 53 : 883-888, 2001.
 
8) 高松潔, ほか : 更年期障害. 臨床婦人科産科 72 : 320-329, 2018.
 
9) 日本産科婦人科学会, 日本産科婦人科医会 : 産婦人科診療ガイドライン-婦人科外来編 2017, 日本産科婦人科学会, 2017.
 
10) Huang AJ, et al : An intensive behavioral weight loss intervention and hot flushes in women. Arch Intern Med 170 : 1161-1167, 2010.
PubMed
11) 高松潔, ほか : 更年期の不定愁訴. 産婦人科治療 94 (増刊) : 241-250, 2007.
 
12) Reynolds EE, et al : Should This Patient Receive Hormone Therapy for Her Menopausal Symptoms? : Grand Rounds Discussion From Beth Israel Deaconess Medical Center. Ann Intern Med 168 : 203-209, 2018.
 
13) de Villiers TJ, et al : Revised Global Consensus Statement on Menopausal Hormone Therapy. Climacteric 19 : 313-315, 2016.
 
14) 日本産科婦人科学会, 日本女性医学学会 : ホルモン補充療法ガイドライン 2017年度版, 日本産科婦人科学会, 2017.
 
15) 高松潔 : 更年期障害に対する漢方療法の有用性の検討-三大漢方婦人薬の無作為投与による効果の比較-. 産婦人科漢方研究のあゆみ 23 : 35-42, 2006.
 
16) 樋口毅, ほか : 更年期障害の諸症状に対する加味逍遥散, ホルモン補充療法の効果比較-無作為割付研究の結果より-. 日本女性医学学会雑誌 20 : 305-312, 2012.
 
17) Shams T, et al : SSRIs for hot flashes : a systematic review and meta-analysis of randomized trials. J Gen Intern Med 29 : 204-213, 2014.
PubMed
18) 高松潔 : 日本人女性の更年期障害における精神的症状に関する検討. 日本更年期医学会雑誌 16 : 44-51, 2008.
 
19) Nonhormonal management of menopause-associated vasomotor symptoms : 2015 position statement of The North American Menopause Society. Menopause 22 : 1155-1172 ; quiz 1173-1174, 2015.
 
20) Aso T, et al : A natural S-equol supplement alleviates hot flushes and other menopausal symptoms in equol nonproducing postmenopausal Japanese women. J Womens Health (Larchmt) 21 : 92-100, 2012.
PubMed
21) 高松潔, 小川真里子 : エクオールと更年期障害. Modern Physician 38 : 393-396, 2018.
 
22) Kaunitz AM, et al : Management of Menopausal Symptoms. Obstet Gynecol 126 : 859-876, 2015.
PubMed
23) 日本女性医学学会 : 専門医・専門資格制度 [http://www.jmwh.jp/n-ninteiseido.html] (2018年11月閲覧)
 
24) Webster AD, et al : Quality of life among postmenopausal women enrolled in the Minnesota Green Tea Trial. Maturitas 108 : 1-6, 2018.
PubMed
25) Politi MC, et al : Revisiting the duration of vasomotor symptoms of menopause : ameta-analysis. J Gen Intern Med 23 : 1507-1513, 2008.
 
P.256 掲載の参考文献
1) American College of Obstetricians and Gynecologists : ACOG Practice bulletin no. 134 : fetal growth restriction. Obstet Gynecol 121 : 1122-1133, 2013.
 
2) Lausman A, Kingdom J ; Maternal Fetal Medicine Committee : Intrauterine growth restriction : screening, diagnosis, and management. J Obstet Gynaecol Can 35 : 741-748, 2013.
PubMed
3) Small-for-Gestational-Age Fetus, Investigation and Management (Green-top Guideline No. 31), Royal College of Obstetricians and Gynaecologists, London, 2013.
 
4) McIntire DD, et al : Birth weight in relation to morbidity and mortality among newborn infants. N Engl J Med 340 : 1234-1238, 1999.
PubMed
5) 日本産科婦人科学会, 日本産婦人科医会 (編) : 産婦人科診療ガイドライン-産科編 2017, 日本産科婦人科学会, 2017.
 
6) Roberts JM : Preeclampsia : what we know and what we do not know. Semin Perinatol 24 : 24-28, 2000.
PubMed
7) Ganzevoort W, et al : STRIDER : Sildenafil Therapy In Dismal prognosis Early-onset intrauterine growth Restriction-a protocol for a systematic review with individual participant data and aggregate data meta-analysis and trial sequential analysis. Syst Rev 3 : 23, 2014.
PubMed
8) Sakamoto M, et al : Early-onset fetal growth restriction treated with the long-acting phosphodiesterase-5 inhibitor tadalafil : a case report. J Med Case Rep 10 : 317, 2016.
 
9) Kubo M, et al : Retrospective study of tadalafil for fetal growth restriction : Impact on maternal and perinatal outcomes. J Obstet Gynaecol Res 43 : 291-297, 2017.
PubMed
10) Kubo M, et al : Safety and dose-finding trial of tadalafil administered for fetal growth restriction : A phase-1 clinical study. J Obstet Gynaecol Res 43 : 1159-1168, 2017.
PubMed
P.261 掲載の参考文献
1) 日本産科婦人科学会・日本病理学会 (編) : 絨毛性疾患取扱い規約 [第3版], 金原出版, 2011.
 
2) 日本婦人科腫瘍学会 (編) : 子宮体がん治療ガイドライン [2018年版], 金原出版, 2018.
 
3) WHO Classification of Tumours of Female Reproductive Organs, 4th ed (ed by Kurman, RJ et al), International Agency for Research on Cancer, Lyon, 2014.
 
4) Shih IM, Kurman RJ : The pathology of intermediate trophoblastic tumors and tumor-like lesions. Int J Gynecol Pathol 20 : 31-47, 2001.
PubMed
P.266 掲載の参考文献
1) 倉智敬一, ほか : 厚生省特定疾患「間脳下垂体機能障害調査研究班」昭和55年度総括研究事業報告書, p25-39, 1981.
 
2) 青野敏博 : 乳房の良性疾患 : 乳汁漏出症. 新女性医学大系 20 乳房とその疾患 (森宏之編), p197-205, 中山書店, 1999.
 
P.269 掲載の参考文献
1) 林邦彦 : 女性の生活習慣と健康に関する疫学調査 (JNHS) の概要. 日本女性医学学会雑誌 20 : 153-155, 2012.
 
P.272 掲載の参考文献
1) Shemwell RE, Weed JC : Ovarian remnant syndrome. Obstet Gynecol 36 : 299-303, 1970.
PubMed
2) Symmonds RE, Pettit PD : Ovarian remnant syndrome. Obstet Gynecol 54 : 174-177, 1979.
PubMed
3) Steege JF : Ovarian remnant syndrome. Obstet Gynecol 70 : 64-67, 1987.
PubMed
4) Pettit PD, Lee RA : Ovarian remnant syndrome : diagnostic dilemma and surgical challenge. Obstet Gynecol 71 : 580-583, 1988.
PubMed
5) Webb MJ : Ovarian remnant syndrome. Aust N Z J Obstet Gynaecol 29 : 433-435, 1989.
PubMed
6) Berek JS, et al : Avoiding ureteral damage in pelvic surgery for ovarian remnant syndrome. Am J Obstet Gynecol 133 : 221-222, 1979.
PubMed
7) Major FJ : Retained ovarian remnant causing ureteral obstruction. Report of two cases. Obstet Gynecol 32 : 748-753, 1968.
PubMed
8) Price FV, et al : Ovarian remnant syndrome : difficulties in diagnosis and management. Obstet Gynecol Surv 45 : 151-156, 1990.
PubMed
9) Kaminski PF, et al : Clomiphene citrate stimulation as an adjunct in locating ovarian tissue in ovarian remnant syndrome. Obstet Gynecol 76 : 924-926, 1990.
PubMed
10) Nezhat CH, et al : Ovarian remnant syndrome after laparoscopic oophorectomy. Fertil Steril 74 : 1024-1028, 2000.
PubMed
11) Nezhat F, Nezhat C : Operative laparoscopy for the treatment of ovarian remnant syndrome. Fertil Steril 57 : 1003-1007, 1992.
PubMed
12) Arden D, Lee T : Laparoscopic excision of ovarian remnants : retrospective cohort study with long-term follow-up. J Minim Invasive Gynecol 18 : 194-199, 2011.
PubMed
13) Abu-Rafeh B, et al : Frequency and laparoscopic management of ovarian remnant syndrome. J Am Assoc Gynecol Laparosc 10 : 33-37, 2003.
PubMed
14) Nelson DC, Avant GR : Ovarian remnant syndrome. South Med J 75 : 757-758, 1982.
PubMed
15) Kho RM, Abrao MS : Ovarian remnant syndrome : etiology, diagnosis, treatment and impact of endometriosis. Curr Opin Obstet Gynecol 24 : 210-214, 2012.
PubMed
16) Fleischer AC, et al : Sonographic features of ovarian remnants. J Ultrasound Med 17 : 551-555, 1998.
PubMed
17) Nezhat C, et al : Laparoscopic management of ovarian remnant. Fertil Steril 83 : 973-978, 2005.
PubMed
18) Kamprath S, et al : Description of a laparoscopic technique for treating patients with ovarian remnant syndrome. Fertil Steril 68 : 663-667, 1997.
PubMed
19) Chao HA : Ovarian remnant syndrome at the port site. J Minim Invasive Gynecol 15 : 505-507, 2008.
 
20) Christ JE, Lotze EC : The residual ovary syndrome. Obstet Gynecol 46 : 551-556, 1975.
PubMed
21) Allen DG : The retained ovary and the residual ovary syndrome. Aust N Z J Obstet Gynaecol 38 : 446-447, 1998.
PubMed
22) Cruikshank SH, Van Drie DM : Supernumerary ovaries : update and review. Obstet Gynecol 60 : 126-129, 1982.
PubMed
P.277 掲載の参考文献
1) 日本産科婦人科学会 (編) : 子宮内膜症取扱い規約 第1部, 金原出版, 1993.
 
2) Missmer SA, Cramer DW : The epidemiology of endometriosis. Obstet Gynecol Clin North Am 30 : 1-19, vii, 2003.
PubMed
3) Nnoaham KE, et al : Is early age at menarche a risk factor for endometriosis? A systematic review and meta-analysis of case-control studies. Fertil Steril 98 : 702-712. e6, 2012.
 
4) Treloar SA, et al : Early menstrual characteristics associated with subsequent diagnosis of endometriosis. Am J Obstet Gynecol 202 : 534. e1-6, 2010.
 
5) 武谷雄二 (主任研究者) : 厚生省心身障害研究「リプロダクティブヘルスからみた子宮内膜症の実態と対策に関する研究」平成9年度研究報告書, 1998.
 
6) 日本産科婦人科学会生殖・内分泌委員会 : 「子宮内膜症・子宮筋腫・子宮腺筋症の実態に関する検討小委員会」報告. 日産婦誌 67 : 1495-1497, 2015.
 
7) Bulun SE : Endometriosis. N Engl J Med 360 : 268-279, 2009.
PubMed
8) Kitawaki J, et al : Usefulness and limits of CA-125 in diagnosis of endometriosis without associated ovarian endometriomas, Hum Reprod 20 : 1999-2003, 2005.
PubMed
9) Revised American Society for Reproductive Medicine classification of endometriosis : 1996. Fertil Steril 67 : 817-821, 1997.
PubMed
10) 日本産科婦人科学会, 日本産婦人科医会 (編) : CQ222 : 嚢胞性病変を伴わない子宮内膜症の治療は? 産婦人科診療ガイドライン-婦人科外来編 2017, p110-112, 日本産科婦人科学会, 2014.
 
11) Kitawaki J, et al : Maintenance therapy involving a tapering dose of danazol or mid/low doses of oral contraceptive after gonadotropin-releasing hormone agonist treatment for endometriosisassociated pelvic pain. Fertil Steril 89 : 1831-1835, 2008.
PubMed
12) Kitawaki J, et al : Maintenance therapy with dienogest following gonadotropin-releasing hormone agonist treatment for endometriosis-associated pelvic pain. Eur J Obstet Gynecol Reprod Biol 157 : 212-216, 2011.
PubMed
P.285 掲載の参考文献
1) 丸山哲夫, ほか : 子宮筋腫 ; 女性性機能. その他. 別冊日本臨牀新領域別症候群シリーズ No. 2 内分泌症候群 (第2版) II, p477-484, 日本臨牀社, 2006.
 
2) Styer AK Rueda BR : The Epidemiology and Genetics of Uterine Leiomyoma. Best Pract Res Clin Obstet Gynaecol 34 : 3-12, 2016.
PubMed
3) Ono M, et al : Side population in human uterine myometrium displays phenotypic and functional characteristics of myometrial stem cells. Proc Natl Acad Sci USA 104 : 18700-18705, 2007.
PubMed
4) Maruyama T, et al : Somatic stem cells in the myometrium and in myomas. Semin Reprod Med 31 : 77-81, 2013.
PubMed
5) Ono M, et al : Tissue-specific stem cells in the myometrium and tumor-initiating cells in leiomyoma. Biol Reprod 91 : 149, 2014.
PubMed
6) Mashal RD, et al : Analysis of androgen receptor DNA reveals the independent clonal origins of uterine leiomyomata and the secondary nature of cytogenetic aberrations in the development of leiomyomata. Genes Chromosomes Cancer 11 : 1-6, 1994.
PubMed
7) Moravek MB, et al : Ovarian steroids, stem cells and uterine leiomyoma : therapeutic implications. Hum Reprod Update 21 : 1-12, 2015.
PubMed
8) Makinen N, et al : MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science 334 : 252-255, 2011.
PubMed
9) Mittal P, et al : Med12 gain-of-function mutation causes leiomyomas and genomic instability. J Clin Invest 125 : 3280-3284, 2015.
PubMed
10) Ono M, et al : Paracrine activation of WNT/β-catenin pathway in uterine leiomyoma stem cells promotes tumor growth. Proc Natl Acad Sci USA 110 : 17053-17058, 2013.
 
11) Pritts EA : Fibroids and infertility : a systematic review of the evidence. Obstet Gynecol Surv 56 : 483-491, 2001.
PubMed
12) Singh SS, et al : The past, present, and future of selective progesterone receptor modulators in the management of uterine fibroids. Am J Obstet Gynecol 218 : 563-572. e1. 2018.
 
13) Baakdah H, Tulandi T : Uterine fibroid embolization. Clin Obstet Gynecol 48 : 361-368, 2005.
PubMed
14) Fauconnier A, et al : Recurrence of leiomyomata after myomectomy. Hum Reprod Update 6 : 595-602, 2000.
PubMed
15) Yoshino O, et al : Myomectomy decreases abnormal uterine peristalsis and increases pregnancy rate. J Minim Invasive Gynecol 19 : 63-67, 2012.
 

VII 性分化, 発育

P.293 掲載の参考文献
1) Klinefelter HF, et al : Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased secretion of follicle-stimulating hormone. J Clin Endocrinol 2 : 615-627, 1942.
 
2) Bojesen A, et al : Prenatal and postnatal prevalence of Klinefelter syndrome : a national registry study. J Clin Endocrinol Metab 88 : 622-626, 2003.
 
3) Morris JK, et al : Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 16 : 163-170, 2008.
PubMed
4) Forti G, et al : Klinefelter's syndrome : a clinical and therapeutical update. Sex Dev 4 : 249-258, 2010.
PubMed
5) Gravholt CH, et al : Klinefelter syndrome : integrating genetics, neuropsychology, and endocrinology. Endocr Rev 39 : 389-423, 2018.
PubMed
6) Lanfranco F, et al : Klinefelter's syndrome. Lancet 364 : 273-283, 2004.
PubMed
7) Samplaski MK, et al : Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients. Fertil Steril 101 : 950-955, 2014.
PubMed
8) Thomas NS, Hassold TJ : Aberrant recombination and the origin of Klinefelter syndrome. Hum Reprod Update 9 : 309-317, 2003.
PubMed
9) Sharma A, et al : DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations. Clin Epigenetics 7 : 76, 2015.
PubMed
10) Tournaye H, et al : Correlation between testicular histology and outcome after intracytoplasmic sperm injection using testicular spermatozoa. Hum Reprod 11 : 127-132, 1996.
PubMed
11) Koga M, et al : Clinical comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome. Urology 70 : 341-345, 2007.
PubMed
12) Takada S, et al : Androgen decline in patients with nonobstructive azoospemia after microdissection testicular sperm extraction. Urology 72 : 114-118, 2008.
PubMed
13) Van Saen D, et al : When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome? Hum Reprod 33 : 1009-1022, 2018.
PubMed
14) Bojesen A, et al : Morbidity in Klinefelter syndrome : aDanish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 91 : 1254-1260, 2006.
 
15) Salzano A, et al : Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes : review of literature and clinical perspectives. Endocrine 61 : 194-203, 2018.
PubMed
16) Han SJ, et al : Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome : The Korean Endocrine Society Registry. Endocrinol Metab (Seoul) 31 : 598-603, 2016.
PubMed
17) Tahani N, et al : Long-term effect of testosterone replacement therapy on bone in hypogonadal men with Klinefelter Syndrome. Endocrine 61 : 327-335, 2018.
 
18) Bojesen A, et al : Socioeconomic trajectories affect mortality in Klinefelter syndrome. J Clin Endocrinol Metab 96 : 2098-2104, 2011.
PubMed
P.296 掲載の参考文献
1) Turner HH : A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23 : 566-574, 1938.
 
2) Ullrich O : Uber typische Kombinationsbilder multipler Abartungen. Zeitschrift fur Kinderheilk 49 : 271-276, 1930.
 
3) Ford CE, et al : A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1 : 711-713, 1959.
 
4) Ferguson-Smith MA : Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2 : 142-155, 1965.
PubMed
5) 黒木良和 : 新生児集団 (5,026例) の細胞遺伝学的検討. 米子医学雑誌 134 : 1-7, 1983.
 
6) Maeda T, et al : A cytogenetic survey of 14,835 consecutive liveborns. Jinrui Idengaku Zasshi 36 : 117-129, 1991.
 
7) Kajii T, et al : Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet 55 : 87-98, 1980.
PubMed
8) Chervenak FA, et al : Fetal cystic hygroma. Cause and natural history. N Engl J Med 309 : 822-825, 1983.
PubMed
9) Suwa S : Standards for growth and growth velocity in Turner's syndrome. Acta Paediatr Jpn 34 : 206-220 ; discussion 221, 1992.
PubMed
10) Lippe BM : Physical and anatomical abnormalities in Turner syndrome. In : Turner Syndrome (ed by Rosenfeld by RG, Grumbach MM), p183-196, Marcel Dekker, New York, 1990.
 
11) Ferencz C, et al : Congenital cardiovascular malformations associated with chromosome abnormalities : an epidemiologic study. J Pediatr 114 : 79-86, 1989.
PubMed
12) Lippe B, et al : Renal malformations in patients with Turner syndrome : imaging in 141 patients. Pediatrics 82 : 852-856, 1988.
PubMed
13) Singh RP, Carr DH : The anatomy and histology of XO human embryos and fetuses. Anat Rec 155 : 369-383, 1966.
PubMed
14) Carr DH, et al : Germ cells in the ovaries of XO female infants. Am J Clin Pathol 49 : 521-526, 1968.
PubMed
15) Forbes AP, Engel E : The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis, and their close relatives. Metab Clin Exp 12 : 428-439, 1963.
PubMed
16) Tanaka T, et al : Glucose tolerance in Turner syndrome. In : Basic and Clinical Approach to Turner Syndrome (ed by Hibi I, Takano K), p197-201, Excerpta Medica, Amsterdam, 1993.
 
17) 田中敏章, ほか : Turner症候群における経ロブドウ糖負荷試験-第1報 年齢による耐糖能の変化-. 糖尿病 46 : 849-856, 2003.
 
18) Caprio S, et al : Insulin resistance : an early metabolic defect of Turner's syndrome. J Clin Endocrinol Metab 72 : 832-836, 1991.
PubMed
19) Williams ED, et al : Thyroiditis and gonadal dysgenesis. N Engl J Med 270 : 805-810, 1964.
PubMed
20) Hultcrantz M, et al : Ear and hearing problems in 44 middle-aged women with Turner's syndrome. Hear Res 76 : 127-132, 1994.
PubMed
P.300 掲載の参考文献
1) Bojesen A, et al : Prenatal and postnatal prevalence of Klinefelter syndrome : anational registry study. J Clin Endocrinol Metab 88 : 622-626, 2003.
 
2) Stochholm K, et al : Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 91 : 3897-3902, 2006.
PubMed
3) Hughes IA, et al : Consensus statement on management of intersex disorders. Arch Dis Child 91 : 554-563, 2006.
PubMed
4) Achermann JC, Hughes IA : Pediatric disorders of sex development In : Williams Textbook of Endocrinology, 13th ed (ed by Melmed S, et al), p893-963, Elsevier, Philadelphia, 2016.
 
5) 堀川玲子 : 性分化疾患の初期対応. 日本小児科学会雑誌 115 : 5-12, 2011.
 
P.305 掲載の参考文献
1) Mueller RF : The Denys-Drash syndrome. J Med Genet 31 : 471-477, 1994.
PubMed
2) Hossain A, Saunders GF : The human sex-determining gene SRY is a direct target of WT1. J Biol Chem 276 : 16817-16823, 2001.
PubMed
3) Hastie ND : Dominant negative mutations in the Wiims tumour (WT1) gene cause Denys-Drash syndrome-proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development. Hum Mol Genet 1 : 293-295, 1992.
 
4) Hutson JM, et al : Malformation syndromes associated with disorders of sex development. Nat Rev Endocrinol 10 : 476-487, 2014.
PubMed
5) Carter S, et al : Renal failure from birth-AKI or CKD? Answers. Pediatr Nephrol 31 : 2259-2262, 2016.
 
6) Lipska BS, et al : Genotype-phenotype associations in WT1 glomerulopathy. Kidney Int 85 : 1169-1178, 2014.
PubMed
7) Nso Roca AP, et al : Evolutive study of children with diffuse mesangial sclerosis. Pediatr Nephrol 24 : 1013-1019, 2009.
PubMed
8) Auber F, et al : Management of Wilms tumors in Drash and Frasier syndromes. Pediatr Blood Cancer 52 : 55-59, 2009.
PubMed
9) Aronson DC, et al : Long-term outcome of bilateral Wilms tumors (BWT). Pediatr Blood Cancer 56 : 1110-1113, 2011.
PubMed
10) Coppes MJ : Serum biological markers and paraneoplastic syndromes in Wilms tumor. Med Pediatr Oncol 21 : 213-221, 1993.
PubMed
11) 日本小児内分泌学会 性分化・副腎疾患委員会 : 性分化疾患の診断と治療, 2016.
 
12) Patek CE, et al : Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wtltm T396). Transgenic Res 17 : 459-475, 2008.
 
13) Jalanko H : Congenital nephrotic syndrome. Pediatr Nephrol 24 : 2121-2128, 2009.
PubMed
14) Kalish JM, et al : Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res 23 : e115-e122, 2017.
PubMed
P.308 掲載の参考文献
1) Haning RV, et al : A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity. Am J Kidney Dis 6 : 40-48, 1985.
PubMed
2) Moorthy AV, et al : Chronic renal failure and XY gonadal dysgenesis : "Frasier" syndrome-a commentary on reported cases. Am J Med Genet Suppl 3 : 297-302, 1987.
PubMed
3) Frasier SD, et al : Gonadoblastoma Associated with Pure Gonadal Dysgenesis in Monozygous Twins. J Pediatr 64 : 740-745, 1964.
PubMed
4) Wang NJ, et al : Frasier syndrome comes full circle : genetic studies performed in an original patient. J Pediatr 146 : 843-844, 2005.
 
5) Jeanpierre C, et al : Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62 : 824-833, 1998.
PubMed
6) Miller-Hodges E, Hohenstein P : WT1 in disease : shifting the epithelial-mesenchymal balance. J Pathol 226 : 229-240, 2012.
PubMed
7) Guaragna MS, et al : Frasier syndrome : four new cases with unusual presentations. Arq Bras Endocrinol Metabol 56 : 525-532, 2012.
PubMed
8) Hersmus R, et al : A 46, XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. PLoS ONE 7 : e40858, 2012.
PubMed
9) Barbaux S, et al : Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17 : 467-470, 1997.
PubMed
10) Schumacher V, et al : Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. Mol Reprod Dev 75 : 1484-1494, 2008.
PubMed
11) Hausladen J, et al : Case report : Teenage girl with proteinuria and amenorrhea. Curr Opin Pediatr 13 : 150-153, 2001.
PubMed
12) Hughes IA, et al : Consensus statement on management of intersex disorders. J Pediatr Urol 2 : 148-162, 2006.
PubMed
13) 浅野達雄, ほか : 腎移植術前検査で確定診断され予防的に性腺摘除を行ったFrasier症候群の1例. 日本小児科学会雑誌 118 : 1515-1519, 2014.
 
14) Jaubert F, et al : Gonad development in Drash and Frasier syndromes depends on WT1 mutations. Arkh Patol 65 : 40-44, 2003.
PubMed
15) Ezaki J, et al : Gonadal tumor in Frasier syndrome : a review and classification. Cancer Prev Res (Phila) 8 : 271-276, 2015.
PubMed
P.314 掲載の参考文献
1) Mendez HM, Opitz JM : Noonan syndrome : a review. Am J Med Genet 21 : 493-506, 1985.
PubMed
2) Tartaglia M, et al : Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29 : 465-468, 2001.
PubMed
3) Ogata T, Yoshida R : PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. Pediatr Endocrinol Rev 2 : 669-674, 2005.
PubMed
4) Stofega MR, et al : Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B. Mol Endocrinol 14 : 1338-1350, 2000.
PubMed
5) Karkkainen MJ, et al : Molecular regulation of lymphangiogenesis and targets for tissue oedema. Trends Mol Med 7 : 18-22, 2001.
PubMed
6) Mariani S, et al : PDGF and the testis. Trends Endocrinol Metab 13 : 11-17, 2002.
PubMed
7) Niemeyer CM, Kratz C : Juvenile myelomonocytic leukemia. Curr Treat Options Oncol 4 : 203-210, 2003.
PubMed
8) Bader-Meunier B, et al : Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 130 : 885-889, 1997.
PubMed
9) Tartaglia M, et al : Somatic mutations in PTPNII in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 34 : 148-150, 2003.
 
10) Bentires-Alj M, et al : Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res 64 : 8816-8820, 2004.
PubMed
11) Aoki Y, et al : Recent advances in RASopathies. J Hum Genet 61 : 33-39, 2016.
PubMed
12) Romano AA, et al : Noonan syndrome : clinical features, diagnosis, and management guidelines. Pediatrics 126 : 746-759, 2010.
PubMed
13) Ferreira LV, et al : PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab 90 : 5156-5160, 2005.
PubMed
P.317 掲載の参考文献
1) Achermann JC, Hughes IA : Disorders of sex development. In : Williams Textbook of Endocrinology, 12th ed (ed by Melmed S, et al). p868-934, Saunders, Philadelphia, 2011.
 
2) Berkovitz GD, et al : Clinical and pathologic spectrum of 46, XY gonadal dysgenesis : its relevance to the understanding of sex differentiation. Medicine (Baltimore) 70 : 375-383. 1991.
 
3) Kremen J, et al : Recent findings on the genetics of disorders of sex development. Curr Opin Urol 27 : 1-6, 2017.
PubMed
4) Hisamatsu E, et al : Two cases of late-diagnosed ovotesticular disorder of sex development. APSP J Case Rep 4 : 40, 2013.
PubMed
5) Biswas K, et al : Imaging in intersex disorders. J Pediatr Endocrinol Metab 17 : 841-845, 2004.
PubMed
6) Matsui F, et al : Long-term outcome of ovotesticular disorder of sex development : a single center experience. Int J Urol 18 : 231-236, 2011.
PubMed
7) Cools M, et al : Germ cell tumors in the intersex gonad : old paths, new directions, moving frontiers. Endocr Rev 27 : 468-484, 2006.
PubMed
8) Pleskacova J. et al : Tumor risk in disorders of sex development. Sex Dev 4 : 259-269, 2010.
PubMed
9) Schultz BA, et al : Pregnancy in true hermaphrodites and all male offspring to date. Obstet Gynecol 113 : 534-536, 2009.
PubMed
10) Younis JS, et al : Successful monozygotic twin pregnancy fathered by a male 46, XY true hermaphrodite. Reprod Biomed Online 22 : 80-82, 2011.
PubMed
P.322 掲載の参考文献
1) Swyer GIM : Male pseudohermaphroditism : a hitherto undescribed form. Br Med J 2 : 709-712, 1955.
 
2) Tsutsumi O, Yoshimura Y : Sex differentiation and ovarian function : An overview. Horm Res 46 (Suppl 1) : 1-5, 1996.
 
3) Sinclair AH, et al : A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346 : 240-244, 1990.
PubMed
4) Koopman P, et al : Male development of chromosomally female mice transgenic for Sry. Nature 351 : 117-121, 1991.
PubMed
5) Tsutsumi O, et al : Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother. Endocr J 41 : 281-285, 1994.
 
6) Gonen N, et al : Sex reversal following deletion of a single distal enhancer of Sox9. Science 360 : 1469-1473, 2018.
PubMed
7) Iida T, et al : A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal, Hum Mol Genet 3 : 1437-1438, 1994.
 
8) 堤治 : XY女性の手紙. 授かる不妊治療と子どもをもつこと, p371-372, 朝日出版社, 2004.
 
9) Troche V, Hernandez E : Neoplasia arising in dysgenetic gonads. Obstet Gynecol Surv 41 : 74-79, 1986.
PubMed
10) Tsutsumi O, et al : Laparoscopic surgery and DNA analysis in patients with XY pure gonadal dysgenesis. J Obstet Gynaecol (Tokyo 1995) 21 : 67-74, 1995.
PubMed
11) Abacl A, et al : Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development. J Pediatr Endocrinol Metab 28 : 1019-1027, 2015.
 
12) Takai Y, et al : A case of XY pure gonadal dysgenesis with 46, XYp-/47. XXYp- karyotype whose gonadoblastoma was removed laparoscopically. Gynecol Obstet Invest 50 : 166-169, 2000.
PubMed
13) 堤治 : 内分泌代謝疾患の診療に必要なインフォームドコンセントの知識「原発無月経」ホルモンと臨床 53 : 79-82, 2005.
 
14) Sauer MV, et al : Successful twin pregnancy after embryo donation to a patient with XY gonadal dysgenesis. Am J Obstet Gynecol 161 : 380-381, 1989.
PubMed
15) Chen MJ, et al : Successful pregnancy in a gonadectomized woman with 46, XY gonadal dysgenesis and gonadoblastoma. Fertil Steril 84 : 217, 2005.
 
P.326 掲載の参考文献
1) Hughes IA, et al : Consensus statement on management of intersex disorders. Arch Dis Child 91 : 554-563, 2006.
PubMed
2) 日本小児内分泌学会性分化委員会 : 性分化異常症の管理に関する合意見解. 日本小児科学会雑誌 112 : 565-578, 2008.
 
3) 渡邊倫子, ほか : 遺伝子・染色体の異常と男性不妊-XX男性・Klinefelter症候群-. 産婦人科の実際 64 : 1251-1255, 2015.
 
4) Delot EC, Vilain EJ : Nonsyndromic 46, XX Testicular Disorders of Sex Development. In : GeneReviews(R) [internet] (ed by Adam MP, et al), University of Washington, Seattle, 1993-2018. [http://www.ncbi.nlm.nih.gov/pubmed/20301589] (2018年11月閲覧)
 
5) Tomaselli S, et al : Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling. PLoS ONE 6 : e16366, 2011.
 
6) Li TF, et al : 46, XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms : a case report and review of the iiterature. BMC Urol 14 : 104, 2014.
 
7) 山口孝則 : 46, XX 精巣性性分化疾患/卵精巣性性分化疾患. 臨床泌尿器科 71 : 814-820, 2017.
 
8) 日本小児内分泌学会 性分化・副腎疾患委員会 : Webtext : 性分化疾患の診断と治療, 2016. [http://jspe.umin.jp/medical/files/webtext_170104.pdf] (2018年11月閲覧)
 
P.331 掲載の参考文献
1) Jacobs PA, et al : Evidence for the existence of the human "super female". Lancet 2 : 423-425, 1959.
PubMed
2) Linden MG, Wohlert M : 47, XXX : what is the prognosis? Pediatrics 82 : 619-630, 1988.
 
3) Nielsen J, et al : Sex chromosome abnormalities found among 34, 910 newborn children : results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 26 : 209-223, 1990.
PubMed
4) MacDonald M, et al : The origin of 47, XXY and 47, XXX aneuploidy : heterogeneous mechanisms and role of aberrant recombination. Hum Mol Genet 3 : 1365-1371, 1994.
PubMed
5) Tartaglia NR, et al : A review of trisomy X (47, XXX). Orphanet J Rare Dis 5 : 8, 2010.
PubMed
6) Wigby K, et al : Expanding the phenotype of Triple X syndrome : A comparison of prenatal versus postnatal diagnosis. Am J Med Genet A 170 : 2870-2881, 2016.
PubMed
7) Bender BG, et al : Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. Pediatrics 96 : 302-308, 1995.
PubMed
8) Wallerstein R, et al : Turner syndrome phenotype with 47, XXX karyotype : further investigation warranted? Am J Med Genet A 125A : 106-107, 2004.
PubMed
9) Lalatta F, Tint GS : Counseling parents before prenatal diagnosis : Do we need to say more about the sex chromosome aneuploidies? Am J Med Genet A 161A : 2873-2879, 2013.
PubMed
P.333 掲載の参考文献
1) Sandberg AA, et al : An XYY human male. Lancet 2 : 488-489, 1961.
PubMed
2) Milunsky JM : Prenatal diagnosis of sex chromosome abnormalities. In : Genetic Disorders and the Fetus : Diagnosis, Prevention. and Treatment, 6th ed (ed by Milunsky A, Milunsky JM), p273-312, Wiley-Blackwell, Oxford, 2010.
 
3) Ogata T, Matsuo N : Sex chromosome aberrations and stature : deduction of the principal factors involved in the determination of adult height. Hum Genet 91 : 551-562, 1993.
PubMed
4) Grumbach MM, Conte FA : Disorders of sex differentiation. In : Williams Textbook of Endocrinology, 8th ed (ed by Wilson JD, Foster DW), p853-951, WB Saunders, Philadelphia, 1992.
 
5) Jacobs PA, et al : Aggressive behavior, mental sub-normality and the XYY male. Nature 208 : 1351-1352, 1965.
PubMed
6) Hook EB : Behavioral implications of the human XYY genotype. Science 179 : 139-150, 1973.
PubMed
7) Gravholt CH : Sex chromosome abnormalities. In : Emery and Rimoin's Principles and Practice of Medical Genetics, 6th ed (ed by Rimoin DL, et al), p1180-1211, Elsevier, San Diego, 2013.
 
8) Gotz MJ, et al : Criminality and antisocial behaviour in unselected men with sex chromosome abnormalities. Psychol Med 29 : 953-962, 1999.
PubMed
9) Han TH, et al : A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47, XYY male. Clin Genet 45 : 67-70, 1994.
 
10) Blanco J, et al : Increased incidence of disomic sperm nuclei in a 47, XYY male assessed by fluorescent in situ hybridization (FISH). Hum Genet 99 : 413-416, 1997.
 
11) Lim AS, et al : Analysis of the sex chromosome constitution of sperm in men with a 47, XYY mosaic karyotype by fluorescence in situ hybridization. Fertil Steril 72 : 121-123, 1999.
PubMed
12) Abramsky L, Chapple J : 47, XXY (Klinefelter syndrome) and 47, XYY : estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 17 : 363-368, 1997.
PubMed
P.338 掲載の参考文献
1) Hughes JF, Page DC : The biology and evolution of mammalian Y chromosomes. Annu Rev Genet 49 : 507-527, 2015.
PubMed
2) Colaco S, Modi D : Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol 16 : 14, 2018.
PubMed
3) Saito K et al : Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification. J Hum Genet 60 : 127-131, 2015.
 
4) Skaletsky H, et al : The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423 : 825-837, 2003.
PubMed
5) Kuroda-Kawaguchi T, et al : The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29 : 279-286, 2001.
 
6) Repping S, et al : Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71 : 906-922, 2002.
PubMed
7) Sadeghi-Nejad H, Farrokhi F : Genetics of azoospermia : current knowledge, clinical implications, and future directions. Part II : Y chromosome microdeletions. Urol J 4 : 192-206, 2007.
 
8) Navarro-Costa P, et al : The AZFc region of the Y chromosome : at the crossroads between genetic diversity and male infertility. Hum Reprod Update 16 : 525-542, 2010.
 
9) Vogt PH : AZF deletions and Y chromosomal haplogroups : history and update based on sequence. Hum Reprod Update 11 : 319-336, 2005.
PubMed
10) Lange J, et al : Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 138 : 855-869, 2009.
PubMed
11) Schiebel K, et al : Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+) XX males and (Y-) XY females. Hum Mol Genet 6 : 1985-1989, 1997.
PubMed
12) Beaulieu Bergeron M, et al : Identification of new susceptibility regions for X ; Ytranslocations in patients with testicular disorder of sex development. Sex Dev 5 : 1-6, 2011.
PubMed
13) McElreavy K, et al : XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region. Proc Natl Acad Sci USA 89 : 11016-11020, 1992.
 
14) McElreavey K, et al : Losg. of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. Proc Natl Acad Sci USA 93 : 8590-8594, 1996.
 
15) Massaia A, Xue Y : Human Y chromosome copy number variation in the next generation sequencing era and beyond. Hum Genet 136 : 591-603, 2017.
PubMed
P.343 掲載の参考文献
1) Kidd KA, et al : Collapse of a fish population after exposure to a synthetic estrogen. Proc Natl Acad Sci USA 104 : 8897-8901, 2007.
PubMed
2) BrunskiU PJ, et al : The effects of fetal exposure to danazol. Br J Obstet Gynaecol 99 : 212-215, 1992.
 
3) 大山建司 : 外因性ホルモンによる異常. 新女性医学大系 17. 性の分化とその異常 (藤本征一郎編, 武谷雄二総集編), p269-282, 中山書店, 2002.
 
4) Adams NR : Sexual behaviour of ewes with clover disease treated repeatedly with oestradiol benzoate or testosterone propionate after ovariectomy. J Reprod Fertil 68 : 113-117, 1983.
PubMed
5) Mitchell JH, et al : Effect of a phytoestrogen food supplement on reproductive health in normal males. Clin Sci 100 : 613-618, 2001.
PubMed
6) Maruyama K, et al : Exposure to exogenous estrogen through intake of commercial milk produced from pregnant cows. Pediatr Int 52 : 33-38, 2010.
PubMed
7) Ho SM, et al : Environmental factors, epigenetics, and developmental origin of reproductive disorders. Reprod Toxicol 68 : 85-104, 2017.
PubMed
8) Guerrero-Bosagna C, et al : Environmentally induced epigenetic transgenerational inheritance of altered Sertoli cell transcriptome and epigenome : molecular etiology of male infertility. PLoS ONE 8 : e59922, 2013.
PubMed
9) Skakkebaek NE, et al : Testicular dysgenesis syndrome : an increasingly common developmental disorder with environmental aspects. Hum Reprod 16 : 972-978, 2001.
PubMed
10) Boisen KA, et al : Difference in prevalence of congenital cryptorchidism in infants between two Nordic countries, Lancet 363 : 1264-1269, 2004.
PubMed
11) Hunt PA, et al : Bisphenol A alters early oogenesis and follicle formation in the fetal ovaryof the rhesus monkey. Proc Natl Acad Sci USA 109 : 17525-17530, 2012.
PubMed
12) Luccio-Camelo DC, Prins GS : Disruption of androgen receptor signaling in males by environmental chemicals. J Steroid Biochem Mol Biol 127 : 74-82, 2011.
PubMed
13) Kortenkamp A : Ten years of mixing cocktails : a review of combination effects of endocrinedisrupting chemicals. Environ Health Perspect 115 (Suppl 1) : 98-105, 2007.
 
14) 大山建司, ほか : 性分化疾患の性自認に関する調査研究. 日本小児科学会雑誌 117 : 1403-1408, 2013.
 
15) Walker DM, Gore AC : Epigenetic impacts of endocrine disruptors in the brain. Front Neuroendocrinol 44 : 1-26, 2017.
PubMed
P.347 掲載の参考文献
1) Lee PA, et al : Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 118 : e488-500, 2006.
PubMed
2) Chang HJ, et al : The phenotype of 45, X/46, XY mosaicism : an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 46 : 156-167, 1990.
PubMed
3) Hsu LY : Prenatal diagnosis of 45, X/46, XY mosaicism-a review and update. Prenat Diagn 9 : 31-48, 1989.
PubMed
4) Dumeige L, et al : Should 45, X/46, XY boys with no or mild anomaly of external genitalia be investigated and followed up? Eur J Endocrinol 179 : 181-190, 2018.
PubMed
5) Bertelloni S, et al : Growth in Boys with 45, X/46, XY Mosaicism : Effect of Growth Hormone Treatment on Statural Growth. Sex Dev 9 : 183-189, 2015.
PubMed
6) Lindhardt Johansen M, et al : 45, X/46, XY mosaicism : phenotypic characteristics, growth, and reproductive function-a retrospective longitudinal study. J Clin Endocrinol Metab 97 : E1540-1549, 2012.
PubMed
7) Telvi L, et al : 45, X/46, XY mosaicism : report of 27 cases. Pediatrics 104 : 304-308, 1999.
PubMed
8) Tosson H, et al : Description of children with 45, X/46, XY karyotype. Eur J Pediatr 171 : 521-529, 2012.
PubMed
9) Huang YC, et al : The spectrum of 45, X/46, XY mosaicism in Taiwanese children : The experience of a single center. J Formos Med Assoc, 2018. [Epub ahead of print]
 
10) Cools M, et al : Germ cell tumors in the intersex gonad : old paths, new directions, moving frontiers. Endocr Rev 27 : 468-484, 2006.
PubMed
11) Colindres JV, et al : Evidence-Based Management of Patients with 45, X/46. XY Gonadal Dysgenesis and Male Sex Assignment : from Infancy to Adulthood. Pediatr Endocrinol Rev 13 : 585-601, 2016.
PubMed
12) Moriya K, et al : Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development. J Pediatr Urol 10 : 955-961, 2014.
PubMed
13) Gravholt CH, et al : Clinical practice guidelines for the care of girls and women with Turner syndrome : proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 177 : G1-G70, 2017.
PubMed
14) Denes FT, et al : The laparoscopic management of intersex patients : the preferred approach. BJU Int 95 : 863-867, 2005.
 
15) Cools M, Looijenga LH : Tumor risk and clinical follow-up in patients with disorders of sex development. Pediatr Endocrinol Rev 9 (Suppl 1) : 519-524, 2011.
 
P.350 掲載の参考文献
1) Andrade JGR, et al : 45, X/46, XY ovotesticular disorder of sex development revisited : undifferentiated gonadal tissue may be mistaken as ovarian tissue. J pediatr Endocrinol Metab 30 : 899-904, 2017.
 
2) Bosze P, et al : The streak gonad syndrome. Obstet Gynecol 54 : 544-548, 1979.
PubMed
3) Ghirardini G, et al : The unilateral streak gonad syndrome (Slotnick-Goldfarb syndrome). Eur J Obstet Gynecol Reprod Biol 12 : 287-295, 1981.
PubMed
4) Hughes IA, et al : Consensus statement on management of intersex disorders. Arch Dis Child 91 : 554-563, 2006.
PubMed
5) Matsumoto F, et al : Tumors of bilateral streak gonads in patients with disorders of sex development containing Y chromosome material. Clin Pediatr Endocrinol 23 : 93-97, 2014.
PubMed
P.353 掲載の参考文献
1) Berthezene F, et al : Leydig-cell agenesis : acause of male pseudohermaphroditism. N Engl J Med 295 : 969-972, 1976.
 
2) Toledo SP : Leydig cell hypoplasia leading to two different phenotypes : male pseudohermaphroditism and primary hypogonadism not associated with this. Clin Endocrinol (Oxf) 36 : 521-522, 1992.
 
3) 有阪治, 小山さとみ : ライディッヒ細胞低 (無) 形成症, 別冊日本臨牀社 新領域別症候群シリーズ No. 2 内分泌症候群 (第2版) II, p545-549, 日本臨牀社, 2006.
 
4) Richter-Unruh A, et al : Novel insertion frameshift mutation of the LH receptor gene : problematic clinical distinctionof Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis. Eur J Endocrinol 152 : 255-259, 2005.
PubMed
5) Kremer H, et al : Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet 9 : 160-164, 1995.
PubMed
6) 藤枝憲二 : LH受容体, FSH受容体遺伝子の不活性型変異による性腺機能低下症. 性の分化と性成熟異常, p127-135, メディカルレビュー社, 2002.
 
7) Athanasoulia AP, et al : Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. Hormones (Athens) 13 : 424-429, 2014.
PubMed
8) Vezzoli V, et al : A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia. Hum Mol Genet 24 : 6003-6012, 2015.
PubMed
9) Lee PA, et al : Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 118 : e488-500, 2006.
PubMed
10) 上仁数義 : LH受容体異常 (Leydig細胞無形成・低形成). 性分化疾患ケースカンファレンス (位田忍, 島田憲次編), p105-107, 診断と治療社, 2014.
 
11) Oelschlager AM, et al : Primary vaginal dilation for vaginal agenesis : strategies to anticipate challenges and optimize outcomes. Curr Opin Obstet Gynecol 28 : 345-349, 2016.
PubMed
P.357 掲載の参考文献
1) Hughes IA, et al : Consensus statement on management of intersex disorders. Arch Dis Child 91 : 554-563, 2006.
PubMed
2) Hughes IA : Disorders of sex development : a new definition and classification. Best Pract Res Clin Endocrinol Metab 22 : 119-134, 2008.
PubMed
3) 日本小児内分泌学会性分化委員会 : 性分化異常症の管理に関する合意見解. 日本小児科学会雑誌 112 : 565-578, 2008.
 
4) Fukami M, et al : Backdoor pathway for dihydrotestosterone biosynthesis : implications for normal and abnormal human sex development. Dev Dyn 242 : 320-329, 2013.
PubMed
5) 日本小児内分泌学会性分化委員会, 厚生労働科学研究費補助金難治性疾患克服研究事業性分化疾患に関する研究班 : 性分化疾患初期対応の手引き (2011. 1策定). 日本小児科学会雑誌 115 : 7-12, 2011.
 
6) 日本小児内分泌学会マス・スクリーニング委員会, 日本マス・スクリーニング学会 : 21-水酸化酵素欠損症の診断・治療のガイドライン (2014年改訂版), 2014. [http://jspe.umin.jp/medical/files/guide20140513.pdf] (2018年11月閲覧)
 
7) 日本小児内分泌学会性分化・副腎疾患委員会 : Webtext : 性分化疾患の診断と治療, 2016. [http://jspe.umin.jp/medical/files/webtext_170104.pdf] (2018年11月閲覧)
 
P.362 掲載の参考文献
1) Shozu M, et al : A new cause of female pseudohermaphroditism : placental aromatase deficiency. J Clin Endocrinol Metab 72 : 560-566, 1991.
PubMed
2) Marino R, et al : Five new cases of 46, XX aromatase deficiency : clinical follow-up from birth to puberty, a novel mutation, and a founder effect. J Clin Endocrinol Metab 100 : E301-307, 2015.
 
3) Miedlich SU, et al : Aromatase deficiency in a male patient-Case report and review of the literature. Bone 93 : 181-186, 2016.
 
4) Maffei L, et al : Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene : effects of testosterone, alendronate, and estradiol treatment. J Clin Endocrinol Metab 89 : 61-70, 2004.
 
5) Lin L, et al : Variable phenotypes associated with aromatase (CYPI9) insufficiency in humans. J Clin Endocrinol Metab 92 : 982-990, 2007.
PubMed
6) Dursun F, Ceylaner S : A novel homozygous CYP19A1 gene mutation : Aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation. J Clin Res Pediatr Endocrinol, 2018. [Epub ahead of print]
 
7) Pepe CM, et al : The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues. Clin Endocrinol (Oxf) 67 : 698-705, 2007.
PubMed
8) Deladoey J, et al : Aromatase deficiency caused by a novel P450arom gene mutation : impact of absent estrogen production on serum gonadotropin concentration in a boy. J Clin Endocrinol Metab 84 : 4050-4054, 1999.
 
9) Bouillon R, et al : Estrogens are essential for male pubertal periosteal bone expansion. J Clin Endocrinol Metab 89 : 6025-6029, 2004.
PubMed
10) Chen Z, et al : Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations : effects of estrogen replacement therapy on the bone, lipid. liver and glucose metabolism. Mol Cell Endocrinol 399 : 32-42, 2015.
 
11) Conte FA, et al : A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab 78 : 1287-1292, 1994.
PubMed
12) Verma N, et al : Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency. J Pediatr Endocrinol Metab 25 : 1185-1190, 2012.
PubMed
13) Hauri-Hohl A, et al : Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. Clin Endocrinol (Oxf) 75 : 39-43, 2011.
 
14) Zhu WJ, et al : Aromatase deficiency : a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization. Mol Cell Endocrinol 433 : 66-74, 2016.
 
15) Burckhardt MA, et al : Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement. Gynecol Endocrinol 31 : 349-354, 2015.
 
16) Belgorosky A, et al : Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene. J Clin Endocrinol Metab 88 : 5127-5131, 2003.
 
17) Lanfranco F, et al : A novel mutation in the human aromatase gene : insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment. Bone 43 : 628-635, 2008.
 
18) Janner M, et al : Impact of estrogen replacement throughout childhood on growth, pituitarygonadal axis and bone in a 46, XX patient with CYP19A1 deficiency. Horm Res Paediatr 78 : 261-268, 2012.
 
19) Mullis PE, et al : Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene : impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab 82 : 1739-1745, 1997.
 
20) Saraco N, et al : An Intron 9 CYP19 Gene Variant (IVS9 + 5G > A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues. Horm Res Paediatr 84 : 275-282, 2015.
 
21) Guercio G, et al : Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency. Horm Res 72 : 370-376, 2009.
 
P.366 掲載の参考文献
1) 田島敏広 : 副腎性器症候群. 産科と婦人科 83 (増刊号 : 産婦人科処方実践マニュアル) : 248-250, 2016.
 
2) 田島敏広 : 21-水酸化酵素欠損症. 小児内分泌学 [改訂第2版] (日本小児内分泌学会編), p371-377, 診断と治療社, 2016.
 
3) Fluck CE, et al : Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36 : 228-230, 2004
PubMed
4) Homma K, et al : Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency : implication for the backdoor pathway to dihydrotestosterone. J Clin Endocrinol Metab 91 : 2643-2649, 2006.
PubMed
5) 石井智弘 : 11β水酸化酵素欠損症. 小児内分泌学 [改訂第2版] (日本小児内分泌学会編), p384-387, 診断と治療社, 2016.
 
6) 長谷川行洋 : 46, XX性分化疾患. 小児内科 46 : 927-931, 2014.
Medical*Online
7) 石井智弘 : 3β水酸化ステロイド脱水素酵素欠損症. 小児内分泌学 [改訂第2版] (日本小児内分泌学会編), p387-390, 診断と治療社, 2016.
 
P.371 掲載の参考文献
1) Lee PA, et al : Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 118 : e488-500, 2006.
PubMed
2) 日本小児内分泌学会性分化委員会 : 性分化疾患初期対応の手引き, 2011.
 
3) Vezzoli V, et al : A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia. Hum Mol Genet 24 : 6003-6012, 2015.
PubMed
4) 位田忍, 島田憲次 : 性分化疾患ケースカンファレンス, 診断と治療社, 2014.
 
5) Miller WL : MECHANISMS IN ENDOCRINOLOGY : Rare defects in adrenal steroidogenesis. Eur J Endocrinol 179 : R125-R141, 2018.
 
6) Bertelloni S, et al : 17beta-hydroxysteroid dehydrogenase-3 deficiency : a rare endocrine cause of male-to-female sex reversal. Gynecol Endocrinol 22 : 488-494, 2006.
PubMed
7) Okeigwe I, Kuohung W : 5-Alpha reductase deficiency : a 40-year retrospective review. Curr Opin Endocrinol Diabetes Obes 21 : 483-487, 2014.
PubMed
8) Gulia C, et al : Androgen insensitivity syndrome. Eur Rev Med Pharmacol Sci 22 : 3873-3887, 2018.
PubMed
9) Picard JY, et al : The Persistent Mullerian Duct Syndrome : An Update Based Upon a Personal Experience of l57 Cases. Sex Dev 11 : 109-125, 2017.
 
10) Kanematsu A, et al : Multivariate Analysis of the Factors Associated With Sexual Intercourse, Marriage, and Paternity of Hypospadias Patients. J Sex Med 13 : 1488-1495, 2016.
PubMed
P.375 掲載の参考文献
1) Yanase T, et al : 17α-hydroxylase/17, 20-lyase deficiency : from clinical investigation to molecular definition. Endocr Rev 12 : 91-108, 1991.
 
2) Miller WL : The syndrome of 17, 20 lyase deficiency. J Clin Endocrinol Metab 97 : 59-67, 2012.
PubMed
3) 柳瀬敏彦 : ステロイド産生酵素異常と不妊Annual Review糖尿病・代謝・内分泌 2007, p241-247, 中外医学社, 2007.
 
4) Yanase T, et al : Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450 (17 alpha) results in partial combined 17 alpha-hydroxylase/17, 20-lyase deficiency. J Biol Chem 264 : 18076-18082, 1989.
 
5) Miura K, et al : Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism : with a review of Japanese patients with mutations of CYP17. J Clin Endocrinol Metab 81 : 3797-3801, 1996.
 
6) Taniyama M, et al : Subtle 17α-hydroxylase/17, 20-lyase deficiency with homozygous Y201N mutation in an infertile women. J Clin Endocrinol Metab 90 : 2508-2511, 2005.
 
7) 柳瀬敏彦, ほか : 特集 内分泌性高血圧のスクリーニング指針 原発性アルドステロン症以外の鉱質コルチコイド受容体活性化病態. 血圧 25 : 240-245, 2018.
 
8) Yanase T, et al : Molecular basis of apparent isolated 17, 20 lyase deficiency : compound heterozygous mutations in the C-terminal region (Arg (496) →Cys, Gln (461) →Stop) actually cause combined 17α-hydroxylase/17, 20 lyase deficiency. Biochim Biophys Acta 1139 : 275-279, 1992.
 
9) Geller DH, et al : The genetic and functional basis of isolated 17, 20-lyase deficiency. Nat Genet 17 : 201-205, 1997.
PubMed
10) Van Den Akker EL et al : Differential inhibition of 17α-hydroxylase and 17, 20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. J Clin Endocrinol Metab 87 : 5714-5721, 2002.
 
11) Sherbet DP, et al : CYP17 mutation E305G causes isolated 17, 20-lyase deficiency by selectively altering substrate binding. J Biol Chem 278 : 48563-48569, 2003.
 
12) Fluck CE, et al : Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36 : 228-230, 2004.
PubMed
13) Kok RC, et al : Isolated 17, 20-lyase deficiency due to the cytochrome b5 mutation W27X. J Clin Endocrinol Metab 95 : 994-999, 2010.
 
P.380 掲載の参考文献
1) Geissler WM, et al : Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet 7 : 34-39, 1994
PubMed
2) Miller WL, Auchus RJ : The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 32 : 81-151, 2011.
PubMed
3) Matsumoto AM, Bremner WJ : Testicular disorders. In : Williams Textbook of Endocrinology, 12th ed (ed by Melmed S, et al), p688-777, Saunders, Philadelphia, 2011.
 
4) Yang Z, et al : 17β-Hydroxysteroid dehydrogenase 3 deficiency : Three case reports and a systematic review. J Steroid Biochem Mol Biol 174 : 141-145, 2017.
 
5) Mendonca BB, et al : 46, XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency. J Steroid Biochem Mol Biol 165 : 79-85, 2017.
 
6) Boehmer AL, et al : 17Beta-hydroxysteroid dehydrogenase-3 deficiency : diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 84 : 4713-4721, 1999.
PubMed
7) Khattab A, et al : Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency. J Pediatr Endocrinol Metab 28 : 623-628, 2015.
PubMed
8) Hughes IA, et al : Consensus statement on management of intersex disorders. Arch Dis Child 91 : 554-563, 2006.
PubMed
P.384 掲載の参考文献
1) 井垣純子 : Reifenstein症候群 (アンドロゲン不応症). 小児科診療 79 (Suppl) : 254, 2016.
 
2) Oakes MB, et al : Complete androgen insensitivity syndrome-a review. J pediatr Adolesc Gynecol 21 : 305-310, 2008.
PubMed
3) Hughes IA, Deeb A : Androgen resistance. Best Pract Res Clin Endocrinol Metab 20 : 577-598, 2006.
PubMed
4) Quigley CA, et al : Androgen receptor defects : historicaL clinica1, and molecular perspectives. Endocr Rev 16 : 271-321, 1995.
 
5) Xu W, et al : Complete androgen insensitivity syndrome due to X chromosome inversion : a clinical report. Am J Med Genet A 120A 434-436, 2003.
 
6) Adachi M, et al : Androgen-insensitivity syndrome as a possible coactivator disease. N Engl J Med 343 : 856-862, 2000.
PubMed
7) 宮本純子, 長谷川行洋 : アンドロゲン受容体異常に起因する疾患. 日本臨牀 60 : 367-372, 2002.
Medical*Online
8) 並木幹夫, ほか : Reifenstein症候群. 別冊日本臨牀 領域別症候群シリーズ No. 1 内分泌症候群 (上巻), p805-806, 日本臨牀社, 1993.
 
9) 長谷川雄一 : アンドロゲン不応症候群. 臨床泌尿器科 71 : 822-825, 2017.
 
10) 西野健一, ほか : 女性化乳房の形成術を行ったReifenstein症候群の1例. 形成外科 47 : 547-552, 2004.
 
11) Bertelloni S, et al : Biochemical selection of prepubertal patients with androgen insensitivity syndrome by sex hormone-binding globulin response to the human chorionic gonadotropin test. Pediatr Res 41 : 266-271, 1997.
 
12) Griffin JE, et al : Steroid 5α-reductase 2 deficiency, Testicular feminization, and related disorders. In : The Metabolic and Molecular Bases of Inherited Disease, 8th ed, Vol 3 (ed by Scriver CR, et al), p4117-4146, McGraw-Hill, New York, 2001.
 
13) Wooster R, et al : A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nat Genet 2 : 132-134, 1992.
PubMed
14) Weidemann W, et al : Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. J Clin Endocrinol Metab 83 : 1173-1176, 1998.
 
15) Ong YC, et al : Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. Lancet 354 : 1444-1445, 1999.
 
P.389 掲載の参考文献
1) Jost A : Problems of fetal endocrinology : the gonadal and hypophyseal hormones. Recent Prog Horm Res 8 : 379-418, 1953.
 
2) Chang CS, et al : Molecular cloning of human and rat complementary DNA encoding androgen receptors. Science 240 : 324-326, 1988.
PubMed
3) Lubahn DB, et al : Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science 240 : 327-330, 1988.
 
4) Griffin JE : Androgen resistance-the clinical and molecular spectrum. N Engl J Med 326 : 611-618, 1992.
PubMed
5) Wilson JD : Syndromes of androgen resistance. Biol Reprod 46 : 168-173, 1992.
PubMed
6) Griffin JE, Wilson JD : Syndromes of androgenre sistance. N Engl J Med 302 : 198-209, 1980.
 
7) 位田忍, 島田憲次 : 精巣性女性化症. 別冊日本臨牀新領域別症候群シリーズ No. 2 内分泌症候群 (第2版) II, p590-593, 日本臨牀社, 2006.
 
8) Zachmann M, et al : Pubertal growth in patients with androgen insensitivity : indirect evidence for the importance of estrogens in pubertal growth of girls. J Pediatr 108 : 694-697, 1986.
PubMed
9) Grumbach MM, Conte FA : Disorders of sex differentiation. In : Williams Textbook of Endocrinology, 8th ed (ed by Wilson JD, Foster DW), p853-951, WB Saunders, Philadelphia, 1992.
 
10) Manuel M, et al : The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 124 : 293-300, 1976.
 
11) Adachi M, et al : Androgen-insensitivity syndrome as a possible coactivator disease. N Engl J Med 343 : 856-862, 2000.
PubMed
12) Gottlieb B, et al : The androgen receptor gene mutations database. Nucleic Acids Res 25 : 158-162, 1997.
PubMed
13) Gottlieb B, et al : The androgen receptor gene mutations database : 2012 update. Hum Mutat 33 : 887-894, 2012.
PubMed
P.394 掲載の参考文献
1) Walsh PC, et al : Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. N Engl J Med 291 : 944-949, 1974.
PubMed
2) Imperato-McGinley J, et al : Steroid salpha-reductase deficiency in man : an inherited form of male pseudohermaphroditism. Science 186 : 1213-1215, 1974.
 
3) Jost A : Problems of fetal endocrinology : the adrenal glands. Recent Prog Horm Res 22 : 541-574, 1966.
PubMed
4) Shimazaki J, et al : Metabolism of testosterone in prostate. 2. Separation of prostatic 17β-ol-dehydrogenase and 5α-reductase. Gunma J Med Sci 14 : 326-333, 1965.
 
5) Griffin JE : Androgen resistance-the clinical and molecular spectrum. N Engl J Med 326 : 611-618, 1992.
PubMed
6) Wilson JD : Syndromes of androgen resistance. Biol Reprod 46 : 168-173, 1992.
PubMed
7) Andersson S, et al : Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature 354 : 159-161, 1991.
PubMed
8) Azzouni F, et al : The 5 alpha-reductase isozyme family : a review of basic biology and their role in human diseases. Adv Urol 2012 : 530121, 2012.
 
9) Pang S, et al : Dihydrotestosterone and its relationship to testosterone in infancy and childhood. J Clin Endocrinol Metab 48 : 821-826, 1979.
PubMed
10) Chan AO, et al : Diagnosis of 5α-reductase 2 deficiency : is measurement of dihydrotestosterone essential? Clin Chem 59 : 798-806, 2013.
 
11) 本間桂子, 長谷川奉延 : 尿ステロイドプロフィルによる診断性分化疾患ケースカンファレンス (位田忍, 島田憲次編), p55-59, 診断と治療社, 2014.
 
12) Berra M, et al : Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic. Eur J Endocrinol 164 : 1019-1025, 2011.
 
13) 池田佳世 : 社会的性別を女子から男子に変更した5α-還元酵素欠損症の1例. 性分化疾患ケースカンファレンス (位田忍, 島田憲次編), p93-95, 診断と治療社, 2014.
 
P.398 掲載の参考文献
1) Lee PA, et al : Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 118 : e488-500, 2006.
PubMed
2) Prader A : [Incidence of congenital adrenogenital syndrome]. Helv Paediatr Acta 13 : 426-431, 1958.
PubMed
3) Marrocco G, et al : Environmental, parental and gestational factors that influence the occurrence of hypospadias in male patients. J Pediatr Urol 11 : 12-19, 2015.
PubMed
4) Mouriquand PD, et al : Surgery in disorders of sex development (DSD) with a gender issue : If (why), when, and how? J Pediatr Urol 12 : 139-149, 2016.
 
P.402 掲載の参考文献
1) Spencer Barthold J, Hagerty JA : Etiology, Diagnosis, and Management of the Undescended Testis. In : Campbell-Walsh Urology, 11th ed (ed by Wein AJ, et al), p3430-3452, e9. Elsevier, Philadelphia, 2016.
 
2) Jones KL : Smith's Recognizable Patterns of Human Malformation, 4th ed, p16-25, WB Saunders, Philadelphia, 1988.
 
3) Rosenbaum KN : Genetics and dysmorphology. In : Clinical Pediatric Urology, 2nd ed (ed by Kelais PP, et al), p36-56, WB Saunders, Philadelphia, 1985.
 
4) 平野岳毅, 泉維昌 : 奇形症候群性分化・成熟異常. 小児科MOOK No. 59 性の分化と成熟の異常 (馬場一雄, 小林登編), p260-269, 金原出版, 1990.
 
5) Hutson JM, Donahoe PK : The hormonal control of testicular descent. Endocr Rev 7 : 270-283, 1986.
PubMed
6) Forest MG, et al : Total and unbound testosterone levels in the newborn and in normal and hypogonadal children : use of a sensitive radioimmunoassay for testosterone. J Clin Endocrinol Metab 36 : 1132-1142, 1973.
PubMed
7) Hadziselimovic F : Examinations and clinical findings in cryptorchid boys. In : Cryptorchidism : Management and Implications, p93-98, Springer-Verlag, Berlin, 1983.
 
8) Czeizel A, et al : Genetics of undescended testis. J Urol 126 : 528-529, 1981.
PubMed
9) Jones IR, et al : Familial incidence of cryptorchidism. J Urol 127 : 508-509, 1982.
PubMed
10) Yamaguchi T, et al : Chromosomal anomalies in cryptorchidism and hypospadias. Urol Int 47 : 60-63, 1991.
PubMed
11) Bartone FF, Schmidt MA : Cryptorchidism : incidence of chromosomal anomalies in 50 cases. J Urol 127 : 1105-1106, 1982.
 
12) Carey JC : Trisomy 18 and trisomy 13 syndromes. In : Management of Genetic Syndromes, 3rd ed (ed by Cassidy SB, Allanson JE), p807-824, Wiley-Blackwell, Hoboken, 2010.
 
13) 木本浩, ほか : E群染色体の異常. 新小児医学大系 7B 出生前小児科学 II (小林登, ほか編), p283-289, 中山書店, 1980.
 
14) 柳沢慧 : D群染色体の異常. 新小児医学大系 7B 出生前小児科学 II (小林登, ほか編), p270-282, 中山書店, 1980.
 
15) Nusbaum RI, Suchy SF : The oculocerebrorenal syndrome of Lowe (Lowe syndrome). In : The Metabolic and Molecular Bases of Inherited Disease, 8th ed (ed by Scriver CR, et al), p6257-6266, McGraw-Hill, New York, 2001.
 
16) 中林啓記, 大和田操 : Lowe症候群. 小児内科 35 (増刊号) : 417-423, 2003.
 
17) Attree O, et al : The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358 : 239-242, 1992.
 
18) 古庄知己 : 18トリソミーに関する医学的エビデンス. 18トリソミー 子どもへのよりよい医療と家族支援をめざして (櫻井浩子, ほか編), p2-32, メディカ出版, 2014.
 
P.406 掲載の参考文献
1) Nilson O : Hernia uteri inguinalis beim Manne. Acta Chir Scand 83 : 231-249, 1939.
 
2) Farikullah J, et al : Persistent Mullerian duct syndrome : lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding rnalignant risk from the Mullerian remnants. BJU Int 110 : E1084-1089, 2012.
 
3) Elias-Assad G, et al : Persistent Mullerian Duct Syndrome Caused by a Novel Mutation of an Anti-Mullerian Hormone Receptor Gene : Case Presentation and Literature Review. Pediatr Endocrinol Rev 13 : 731-740, 2016.
 
4) Picard JY, et al : The Persistent Mullerian Duct Syndrome : An Update Based Upon a Personal Experience of 157 Cases. Sex Dev 11 : 109-125, 2017.
PubMed
5) Josso N : In vitro synthesis of mullerian-inhibiting hormone by seminiferous tubules isolated from the calf fetal testis. Endocrinology 93 : 829-834, 1973.
PubMed
6) Cate RL, et al : Isolation of the bovine and human genes for Mullerian inhibiting substance and expression of the human gene in animal cells. Cell 45 : 685-698, 1986.
PubMed
7) MacLaughlin DT, Donahoe PK : Sex determination and differentiation. N Engl J Med 350 : 367-378, 2004.
PubMed
8) Clarnette TD, et al : Genital anomalies in human and animal models reveal the mechanisms and hormones governing testicular descent. Br J Urol 79 : 99-112, 1997.
PubMed
9) Mohammadi Sichani M, et al : Persistent mullerian duct syndrome with an irreducible inguinal hernia. Urol J 6 : 298-300, 2009.
PubMed
10) Aksglaede L, et al : Changes in anti-Mullerian hormone (AMH) throughout the life span : a population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years. J Clin Endocrinol Metab 95 : 5357-5364, 2010.
 
11) Loeff DS, et al : Surgical and genetic aspects of persistent mullerian duct syndrome. J Pediatr Surg 29 : 61-65, 1994.
PubMed
12) Mouli K, et al : Persistent mullerian duct syndrome in a man with transverse testicular ectopia. J Urol 139 : 373-375, 1988.
 
13) Brandli DW, et al : Persistent Mullerian duct syndrome with bilateral abdominal testis : surgical approach and review of the literature. J Pediatr Urol 1 : 423-427, 2005.
PubMed
14) Sloan WR, Walsh PC : Familial persistent Mullerian duct syndrome. J Urol 115 : 459-461, 1976.
PubMed
15) Manjunath BG, et al : Persistent mullerian duct syndrome : How to deal with the mullerian duct remnants-a review. Indian J Surg 72 : 16-19, 2010.
PubMed
16) Melman A, et al : The innuence of neonatal orchiopexy upon the testis in persistent Mullerian duct syndrome. J Urol 125 : 856-858, 1981.
PubMed
P.411 掲載の参考文献
1) Levitt SB, Reda EF : Hypospadias. Pediatr Ann 17 : 48-49, 53-54, 57, 1988.
 
2) Springer A, et al : Worldwide prevalence of hypospadias. J Pediatr Urol 12 : 152. e1-7, 2016.
 
3) Kurahashi N, et al : The estimated prevalence of hypospadias in Hokkaido, Japan. J Epidemiol 14 : 73-77, 2004.
PubMed
4) Yamada G, et al : Cellular and molecular mechanisms of development of the external genitalia. Differentiation 71 : 445-460, 2003.
PubMed
5) Shih EM, Graham JM Jr : Review of genetic and environmental factors leading to hypospadias. Eur J Med Genet 57 : 453-463, 2014.
PubMed
6) Kaplan GW, Brock WA : The etiology of chordee. Urol Clin North Am 8 : 383-387, 1981.
PubMed
7) Timing of elective surgery on the genitalia of male children with particular reference to the risks, benefits, and psychological effects of surgery and anesthesia. American Academy of Pediatrics. Pediatrics 97 : 590-594, 1996.
 
8) Snodgrass W : Tubularized, incised plate urethroplasty for distal hypospadias. J Urol 151 : 464-465, 1994.
PubMed
9) Koyanagi T, et al : Onlay urethroplasty with parameatal foreskin flap for distal hypospadias. Eur Urol 19 : 221-224, 1991.
 
10) Wacksman J : Modification of the one-stage flip-flap procedure to repair distal penile hypospadias. Urol Clin North Am 8 : 527-530, 1981.
PubMed
11) Duckett JW : The island flap technique for hypospadias repair. 1981. J Urol 167 : 2148-2152 ; discussion 2157-2158, 2002.
 
12) Koyanagi T, et al : One-stage repair of hypospadias : is there no simple method universally applicable to all types of hypospadias? J Urol 152 : 1232-1237, 1994.
PubMed
13) Byars LT : Surgical repair of hypospadias. Surg Clin North Am 30 : 1371-1378, 1950.
PubMed
14) Bracka A : Hypospadias repair : the two-stage alternative. Br J Urol 76 (Suppl 3) : 31-41, 1995.
 
15) Moriya K, et al : Long-term cosmetic and sexual outcome of hypospadias surgery : norm related study in adolescence. J Urol 176 (4 Pt 2) : 1889-1892 ; discussion 1892-1893,
 
16) Bubanj TB, et al : Sexual behavior and sexual function of adults after hypospadias surgery : a comparative study. J Urol 171 : 1876-1879, 2004.
PubMed
17) Moriya K, et al : Factors affecting Post-pubertal penile size in patients with hypospadias. World J Urol 34 : 1317-1321, 2016.
PubMed
18) Moriya K, et al : Long-term outcome of pituitary-gonadal axis and gonadal growth in patients with hypospadias at puberty. J Urol 184 (4 Suppl) : 1610-1614, 2010.
 
P.417 掲載の参考文献
1) Murphy C, et al : Ambiguous genitalia in the newborn : an overview and teaching tool. J Pediatr Adolesc Gynecol 24 : 236-250, 2011.
PubMed
2) Chapter 18 : Anatomic Disorders. In : Williams Gynecology, 3rd ed (ed by Hoffman BL, et al), McGraw-Hill Education, New York, 2016.
 
3) ACOG Committee Opinion No. 728 Summary : Mullerian Agenesis : Diagnosis, Management, And Treatment. Obstet Gynecol 131 : 196-197, 2018.
PubMed
4) Fujimoto VY, et al : Congenital cervical atresia : report of seven cases and review of the literature. Am J Obstet Gynecol 177 : 1419-1425, 1997.
PubMed
5) Pizzo A, et al : Mayer-Rokitansky-KOster-Hauser syndrome : embryology, genetics and clinical and surgical treatment. ISRN Obstet Gynecol 2013 : 628717, 2013.
 
6) Fedele L, et al : Creation of a neovagina by Davydov's laparoscopic modified technique in patients with Rokitansky syndrome. Am J Obstet Gynecol 202 : 33. e1-6, 2010.
 
7) Fedele L, et al : The laparoscopic Vecchietti's modified technique in Rokitansky syndrome : anatomic, functional, and sexual long-term results. Am J Obstet Gynecol 198 : 377. e1-6, 2008.
 
8) 高井由紀, ほか : 機能性子宮を有する先天性下部腟欠損症の1例. 産婦人科の進歩 60 : 235-238, 2008.
Medical*Online
9) 岡垣竜吾, 石原理 : 子宮留血腫を繰り返す子宮頸管閉鎖に低用量ピル連続内服が有効であった一症例. 日本産科婦人科学会関東連合地方部会会誌 47 : 405-409, 2010.
 
10) 小林麻美, ほか : 子宮頸部低形成・腟欠損に対し腹腔鏡補助下子宮頸管開口術・腟形成術を施行した一例. 青森県臨床産婦人科医会誌 26 : 30-36, 2011.
 
11) Fedele L, et al : Laparoscopically assisted uterovestibular anastomosis in patients with uterine cervix atresia and vaginal aplasia. Fertil Steril 89 : 212-216, 2008.
PubMed
12) Deffarges JV, et al : Utero-vaginal anastomosis in women with uterine cervix atresia : long-term follow-up and reproductive performance. A study of 18 cases. Hum Reprod 16 : 1722-1725, 2001.
PubMed
13) The American Fertility Society classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, mullerian anomalies and intrauterine adhesions. Fertil Steril 49 : 944-955, 1988.
PubMed
14) Remohi J, et al : Endometrial thickness and serum oestradiol concentrations as predictors of outcome in oocyte donation. Hum Reprod 12 : 2271-2276, 1997.
PubMed
15) 櫻木範明, ほか : III性分化異常症の治療 B外科的治療 婦人科領域. 新女性医学大系 17 性の分化とその異常 (武谷雄二総編集, 藤本征一郎編), p319-328, 中山書店, 2002.
 
P.420 掲載の参考文献
1) Kobayashi A, Behringer RR : Developmental genetics of the female reproductive tract in mammals. Nat Rev Genet 4 : 969-980, 2003.
PubMed
2) Kitagaki J, et al : FGF8 is essential for formation of the ductal system in the male reproductive tract. Development 138 : 5369-5378, 2011.
PubMed
3) 坂本英雄ほか : 精液量減少を主訴とした先天性両側精管欠損症の1例および不妊症を主訴とした先天性両側精管欠損症の臨床経験. 日本性機能学会雑誌 22 : 57-63, 2007.
Medical*Online
4) Akay F, et al : Partial duplication of the vas deferens at the level of inguinal canal. Int J Urol 12 : 773-775, 2005.
PubMed
5) 米田由香里, ほか : 腹腔鏡下に摘出できた子宮頸部Gartner管嚢胞の一例. 日本産科婦人科内視鏡学会雑誌 27 : 429-432, 2011.
Medical*Online
6) 井上貴昭, ほか : 対側停留精巣と同側腎無形成を伴った中腎管遺残の1例. 泌尿器科紀要 54 : 309-312, 2008.
 
7) 柳瀬敏彦, 岡部泰二郎 : アンドロゲン受容体と疾患. ゲノム医学 8 : 27-30, 2008.
Medical*Online
8) 松本修, ほか : 精液減少症とその原因. 図説泌尿器科学講座 4 内分泌疾患・性機能障害 (三宅弘治編), p160-162, メジカルビュー社, 1991.
 
P.425 掲載の参考文献
1) Aaronson IA : Micropenis : medical and surgical implications. J Urol 152 : 4-14, 1994.
PubMed
2) Ishii T, et al : A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years. Horm Res Paediatr 82 : 388-393, 2014.
 
3) Grumbach MM : A window of opportunity : the diagnosis of gonadotropin deficiency in the male infant. J Clin Endocrinol Metab 90 : 3122-3127, 2005.
 
4) Nelson CP, et al : The increasing incidence of congenital penile anomalies in the United States. J Urol 174 : 1573-1576, 2005.
PubMed
5) Matsuo N, et al : Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants. Endocr J 61 : 849-853, 2014.
PubMed
6) Howard SR, Dunkel L : Management of hypogonadism from birth to adolescence. Best Pract Res Clin Endocrinol Metab 32 : 355-372, 2018.
PubMed
7) Menon Khatwa UA, et al : The child with micropenis. Indian J Pediatr 67 : 455-460, 2000.
PubMed
8) Rynja SP, et al : Testosterone prior to hypospadias repair : Postoperative complication rates and long-term cosmetic results, penile length and body height. J Pediatr Urol 14 : 31. e1-31. e8, 2018.
 
9) Xu D, et al : Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis. J Pediatr Endocrinol Metab 30 : 1285-1291, 2017.
PubMed
10) Husmann DA : The androgen insensitive micropenis : long-term follow-up into adulthood. J Pediatr Endocrinol Metab 17 : 1037-1041, 2004.
PubMed
11) Srinivasan AK, et al : Inconspicuous penis. Scientific World Journal 11 : 2559-2564, 2011.
PubMed
12) 吉野薫, 渡辺仁人 : 埋没陰茎に対する陰茎形成術. 小児外科 46 : 525-528, 2014.
Medical*Online
13) Shenoy MU, et al : Buried penis : surgical correction using liposuction and realignment of skin. BJU Int 86 : 527-530, 2000.
PubMed
P.431 掲載の参考文献
1) Schedewie HK, et al : Testicular leydig cell hyperplasia as a cause of familial sexual precocity. J Clin Endocrinol Metab 52 : 271-278, 1981.
PubMed
2) Egli CA, et al : Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations : familial testotoxicosis. J pediatr 106 : 33-40, 1985.
PubMed
3) Shenker A, et al : A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365 : 652-654, 1993.
PubMed
4) Mitre N, Lteif A : Treatment of familial male-limited precocious puberty (testotoxicosis) with anastrozole and bicalutamide in a boy with a novel mutation in the luteinizing hormone receptor. J Pediatr Endocrinol Metab 22 : 1163-1167, 2009.
 
5) Ozcabl B, et al : Testotoxicosis : Report of Two Cases, One with a Novel Mutation in LHCGR Gene. J Clin Res Pediatr Endocrinol 7 : 242-248, 2015.
 
6) Yano K, et al : A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. J Clin Endocrinol Metab 80 : 1162-1168, 1995.
 
7) Kosugi S, et al : Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. Hum Mol Genet 4 : 183-188, 1995.
PubMed
8) Laue L, et al : Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci USA 92 : 1906-1910, 1995.
PubMed
9) Yano K, et al : A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene. Biochem Biophys Res Commun 220 : 1036-1042, 1996.
 
10) Nagasaki K, et al : Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty. Endocr J 57 : 1055-1060, 2010.
 
11) Rosenthal IM, et al : Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor-a clinical research center study. J Clin Endocrinol Metab 81 : 3802-3806, 1996.
 
12) Kreher NC, et al : Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole. J Pediatr 149 : 416-420, 2006.
PubMed
13) Lenz AM, et al : Bicalutamide and thirdgeneration aromatase inhibitors in testotoxicosis. Pediatrics 126 : e728-733, 2010.
PubMed
14) Leschek EW, et al : Effect of Antiandrogen, Aromatase Inhibitor, and Gonadotropin-releasing Hormone Analog on Adult Height in Familial Male Precocious Puberty. J pediatr 190 : 229-235, 2017.
PubMed
15) Yoshizawa-Ogasawara A, et al : Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis. Clin Pediatr Endocrinol 23 : 53-58, 2014.
Medical*Online
16) Liu G, et al : Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. N Engl J Med 341 : 1731-1736, 1999.
PubMed
17) Canto P, et al : Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors. Am J Med Genet 108 : 148-152, 2002.
PubMed
18) Martin MM, et al : Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor. Eur J Endocrinol 139 : 101-106, 1998.
 
19) Juel Mortensen L, et al : Germ Celi Neoplasia in Situ and Preserved Fertility Despite Suppressed Gonadotropins in a Patient With Testotoxicosis. J Clin Endocrinol Metab 102 : 4411-4416, 2017.
 
20) Almeida MQ, et al : Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole. Clin Endocrinol (Oxf) 69 : 93-98, 2008.
PubMed
21) Gromoll J, et al : A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. J Clin Endocrinol Metab 83 : 476-480, 1998.
PubMed
22) Shinagawa T, et al : Japanese familial patients with male-limited precocious puberty. Endocr J 47 : 777-782, 2000.
PubMed
23) Bertelloni S, et al : Long-term outcome of male-limited gonadotropin-independent precocious puberty. Horm Res 48 : 235-239, 1997.
PubMed
24) Soriano-Guillen L, et al : Adult height after ketoconazole treatment in patients with familial male-lirnited precocious puberty. J Clin Endocrinol Metab 90 : 147-151, 2005.
PubMed
25) Lane LC, et al : Adult height in patients with familial male-limited precocious puberty and the role of an aromatase inhibitor in patient management. J Pediatr Endocrinol Metab 31 : 551-560, 2018.
PubMed
26) Cunha-Silva M, et al : Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels. Hum Reprod 33 : 914-918, 2018.
 
27) Leschek EW, et al : Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty. J Pediatr 138 : 949-951, 2001.
 
28) Eyssette-Guerreau S, et al : Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty. J Pediatr Endocrinol Metab 21 : 995-1002, 2008.
PubMed
29) Yano K, et al : A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J Clin Endocrinol Metab 79 : 1818-1823, 1994.
 
30) Siviero-Miachon AA, et al : Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis. Endocr Res 42 : 117-124, 2017.
PubMed
P.435 掲載の参考文献
1) Jirasek JE : Development of the Genital System and Male Pseudohermaphroditism, p3-41, Johns Hopkins Press, Baltimore, 1971.
 
2) Coulam CB : Testicular regression syndrome. Obstet Gynecol 53 : 44-49, 1979.
PubMed
3) Lowe DH, et al : Laparoscopy for localization of nonpalpable testes. J Urol 131 : 728-729, 1984.
PubMed
4) Sparnon A, et al : The vanishing testis. Pediatr Surg Int 1 : 227-228, 1986.
 
5) Connors MH, Styne DM : Familial functional anorchism : a review of etiology and management. J Urol 133 : 1049-1051, 1985.
PubMed
6) Edman CD, et al : Embryonic testicular regression. A clinical spectrum of XY agonadal individuals. Obstet Gynecol 49 : 208-217, 1977.
PubMed
7) Josso N, Briard ML : Embryonic testicular regression syndrome : variable phenotypic expression in siblings. J Pediatr 97 : 200-204, 1980.
PubMed
8) Rosenberg C, et al : Testicular regression in a patient with virilized female phenotype. Am J Med Genet 19 : 183-188, 1984.
 
9) 日本小児内分泌学会 性分化・副腎疾患委員会 : Webtext : 性分化疾患の診断と治療, 2016. [http://jspe.umin.jp/medical/files/webtext_170104.pdf] (2018年11月閲覧)
 
10) Abeyaratne MR, et al : The vanishing testis. Lancet 2 : 822-824, 1969.
PubMed
11) Philibert P, et al : Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia : a French collaborative study. Hum Reprod 22 : 3255-3261, 2007.
PubMed
12) Sarto GE, Opitz JM : The XY gonadal agenesis syndrome. J Med Genet 10 : 288-293, 1973.
PubMed
13) Pedreira CM, et al : Agonadism XY with familial recurrence. In : Physiology and Genetics of Reproduction (ed by Coutinho EM, Fuchs F), p91-96, Plenum Press, New York, 1974.
 
14) Aynsley-Green A, et al : Congenital bilateral anorchia in childhood : a clinical, endocrine and therapeutic evaluation of twenty-one cases. Clin Endocrinol (Oxf) 5 : 381-391, 1976.
PubMed
15) Teo AQ, et al : Is surgical exploration necessary in bilateral anorchia? J Pediatr Urol 9 : e78-81, 2013.
PubMed
P.440 掲載の参考文献
1) 田中敏章, 今井敏子 : 乳房発育の年齢標準値-思春期早発症の診断基準のために-. 小児保健研究 64 : 33-38, 2005.
Medical*Online
2) Fujieda K, Matsuura N : Growth and maturation in the male genitalia from birth to adolescence. I. Change of testicular volume. Acta Paediatr Jpn 29 : 214-219, 1987.
PubMed
3) 田中敏章, 今井敏子 : 縦断的検討による女児の思春期の成熟と初経年齢の標準化. 日本小児科学会雑誌 109 : 1232-1242, 2005.
 
4) Sato N, et al : The usefulness of GnRH and hCG testing for the differential diagnosis of delayed puberty and hypogonadotropic hypogonadism in prepubertalboys. Jpn J Reprod Endocrinol 8 : 49-53, 2003.
 
5) 田中敏章, ほか : 中枢性思春期早発症に対する性腺抑制療法におけるLHRHアナログの治療量の検討. 日本成長学会雑誌 16 : 85-92, 2010.
Medical*Online
6) Tanaka T, et al : Results of long-term follow-up after treatment of central precocious puberty with leuprorelin acetate : evaluation of effectiveness of treatment and recovery of gonadal function. The TAP-144-SR Japanese Study Group on Central Precocious Puberty. J Clin Endocrinol Metab 90 : 1371-1376, 2005.
 
7) 内木康博, ほか : 思春期男子における蛋白同化ホルモンの成長促進効果. 日本小児臨床薬理学会雑誌 18 : 143-146, 2005.
 
P.445 掲載の参考文献
1) 日本精神神経学会 性同一性障害に関する委員会 : 性同一性障害に関する診断と治療のガイドライン (第4版改). [https://www.jspn.or.jp/uploads/uploads/files/activity/gid_guideline_no4_20180120.pdf] (2018年11月閲覧)
 
2) ICD-11, WHO, 2018. [https://icd.who.int/] (2018年11月閲覧)
 
3) 大島義孝, 佐藤俊樹 : 性同一性障害/性別違和の存在率 (prevalence). 医学のあゆみ 256 : 274-279, 2016.
Medical*Online
4) Kuyper L, Wijsen C : Gender identities and gender dysphoria in the Netherlands. Arch Sex Behav 43 : 377-385, 2014.
PubMed
5) Masumori N : Status of sex reassignment surgery for gender identity disorder in Japan. Int J Urol 19 : 402-414, 2012.
 
6) Saleem F, Rizvi SW : Transgender Associations and Possible Etiology : A Literature Review. Cureus 9 : e1984, 2017.
PubMed
P.447 掲載の参考文献
1) Stern AM, et al : The hand-food-uterus syndrome : a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract. J Pediatr 77 : 109-116, 1970.
PubMed
2) Poznanski AK, et al : Radiographic findings in the hand-foot-uterus syndrome (HFUS). Radiology 95 : 129-134, 1970.
PubMed
3) Mortlock DP, Innis JW : Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet 15 : 179-180, 1997.
PubMed
4) Goodman FR, et al : Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet 67 : 197-202, 2000.
PubMed
5) Utsch B, et al : A novel stable polyalanine [poly (A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome : proper function of poly (A) -harbouring transcription factors depends on a critical repeat length? Hum Genet 110 : 488-494, 2002.
PubMed
6) Debeer P, et al : Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet 39 : 852-856, 2002.
 
7) Rinn JL, et al : A dermal HOX transcriptional program regulates site-specific epidermal fate. Genes Dev 22 : 303-307, 2008.
PubMed
8) Sheth R, et al : Hox genes regulate digit patterning by controlling the wavelength of a Turing-type mechanism. Science 338 : 1476-1480, 2012.
PubMed
9) Innis JW, et al : A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat 19 : 573-574, 2002,
 
10) Goodman FR : Limb malformations and the human HOX genes. Am J Med Genet 112 : 256-265, 2002.
PubMed
P.451 掲載の参考文献
1) Rokitansky C : Uber die sogenannten Verdoppelungen des Uterus. Med Jb Osterreich Staates 26 : 39-77, 1838.
 
2) Jones HW Jr, Mermut S : Familial occurrence of congenital absence of the vagina. Am J Obstet Gynecol 114 : 1100-1101, 1972.
PubMed
3) Shokeir MH : Aplasia of the Mullerian system : evidence for probable sex-limited autosomal dominant inheritance. Birth Defects Orig Artic Ser 14 : 147-165, 197&
 
4) Petrozza JC, et al : Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait : outcomes of surrogate pregnancies. Fertil Steril 67 : 387-389, 1997.
 
5) Vainio S, et al : Female development in mammals is regulated by Wnt-4 signalling. Nature 397 : 405-409, 1999.
PubMed
6) Biason-Lauber A, et al : A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46, XX woman. N Engl J Med 351 : 792-798, 2004.
 
7) Clement-Ziza M, et al : Exclusion of WNT4 as a major gene in Rokitansky-Kuster-Hauser anomaly. Am J Med Genet A 137 : 98-99, 2005.
PubMed
8) Pittock ST, et al : Mayer-Rokitansky-Kuster-Hauser anomaly and its associated malformations. Am J Med Genet A 135 : 314-316, 2005.
PubMed
9) Plevraki E, et al : Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene : two new features of Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 81 : 689-692, 2004.
PubMed
10) Ota H, et al : Laparoscopy-assisted Ruge procedure for the creation of a neovagina in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 73 : 641-644, 2000.
 
11) 堤治 : 産婦人科手術療法マニュアル「腟欠損症手術」産科と婦人科 70 (Suppl) : 319-323, 2003.
 
12) Altchek A : Uterus transplantation. Mt Sinai J Med 70 : 154-162, 2003.
PubMed
13) Batzer FR, et al : Genetic offspring in patients with vaginal agenesis : specific medical and legal issues. Am J Obstet Gynecol 167 : 1288-1292, 1992.
PubMed
14) Raziel A, et al : Eight years' experience with an IVF surrogate gestational pregnancy programme. Reprod Biomed Online 11 : 254-258, 2005.
PubMed
15) 堤治 : 生殖補助医療の新しいリスク-遺伝子異常等による生殖機能異常とその世代間連鎖. ホルモンと臨床 53 : 713-719, 2005.
 
16) 日本受精着床学会倫理委員会報告「非配偶者間における生殖補助医療の実施に関する見解と提言」2003. [http://www.jsfi.jp/about/pdf/ethics20030625_01.pdf] (2018年11月閲覧)
 
17) Brannstrom M, et al : Livebirth after uterus transplantation. Lancet 385 : 607-616, 2015.
PubMed
18) Suganuma N, et al : Uterus transplantation : Toward clinical application in Japan. Reprod Med Biol 16 : 305-313, 2017.
PubMed

書評

最近チェックした商品履歴

Loading...