| H00598 | |
| H number | H00598 |
| Name | 46,XX testicular disorder of sex development |
| Description | 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. |
| Category | Reproductive system disease |
| Network | - |
| Gene | (SRXX1) SRY [HSA:6736] [KO:K09266] (SRXX3) SOX3 [HSA:6658] [KO:K09267] (SRXX4) NR5A1 [HSA:2516] [KO:K08560] (SRXX5) NR2F2 [HSA:7026] [KO:K08548] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2A.Y ICD-10: Q99.1 MeSH: D058531 OMIM: 400045 300833 617480 618901 |
| Reference | PMID:20688619 AUTHORS Kousta E, Papathanasiou A, Skordis N TITLE Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals. JOURNAL Hormones (Athens) 9:218-131 (2010) DOI:10.14310/horm.2002.1272 PMID:23065160 AUTHORS Moshiri M, Chapman T, Fechner PY, Dubinsky TJ, Shnorhavorian M, Osman S, Bhargava P, Katz DS TITLE Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. JOURNAL Radiographics 32:1599-618 (2012) DOI:10.1148/rg.326125507 PMID:11750731 (SRXX1) AUTHORS Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP TITLE 46,XX sex reversal. JOURNAL Arch Med Res 32:559-66 (2001) DOI:10.1016/S0188-4409(01)00322-8 PMID:21183788 (SRXX3) AUTHORS 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 TITLE Identification of SOX3 as an XX male sex reversal gene in mice and humans. JOURNAL J Clin Invest 121:328-41 (2011) DOI:10.1172/JCI42580 PMID:27490115 (SRXX4) AUTHORS Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M TITLE NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. JOURNAL Genet Med 19:367-376 (2017) DOI:10.1038/gim.2016.118 PMID:29478779 (SRXX5) AUTHORS 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 TITLE Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. JOURNAL Am J Hum Genet 102:487-493 (2018) DOI:10.1016/j.ajhg.2018.01.021 |