| H00598 | |
| H番号 | H00598 |
| 名称 | 46,XX 精巣性分化疾患 |
| 概要 | 46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, are phenotypically normal males. |
| カテゴリ | 生殖器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (SRXX1) SRY [HSA:6736] [KO:K09266] (SRXX3) SOX3 [HSA:6658] [KO:K09267] (SRXX4) NR5A1 [HSA:2516] [KO:K08560] (SRXX5) NR2F2 [HSA:7026] [KO:K08548] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2A.Y ICD-10: Q99.1 MeSH: D058531 OMIM: 400045 300833 617480 618901 |
| 文献 | PMID:20688619 著者 Kousta E, Papathanasiou A, Skordis N タイトル Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals. 雑誌 Hormones (Athens) 9:218-131 (2010) DOI:10.14310/horm.2002.1272 PMID:23065160 著者 Moshiri M, Chapman T, Fechner PY, Dubinsky TJ, Shnorhavorian M, Osman S, Bhargava P, Katz DS タイトル Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. 雑誌 Radiographics 32:1599-618 (2012) DOI:10.1148/rg.326125507 PMID:11750731 (SRXX1) 著者 Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP タイトル 46,XX sex reversal. 雑誌 Arch Med Res 32:559-66 (2001) DOI:10.1016/S0188-4409(01)00322-8 PMID:21183788 (SRXX3) 著者 Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P タイトル Identification of SOX3 as an XX male sex reversal gene in mice and humans. 雑誌 J Clin Invest 121:328-41 (2011) DOI:10.1172/JCI42580 PMID:27490115 (SRXX4) 著者 Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M タイトル NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 雑誌 Genet Med 19:367-376 (2017) DOI:10.1038/gim.2016.118 PMID:29478779 (SRXX5) 著者 Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Solyom J, Halasz Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K タイトル Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. 雑誌 Am J Hum Genet 102:487-493 (2018) DOI:10.1016/j.ajhg.2018.01.021 |