title: Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.
abstract: Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. In the absence of SRY, overexpression of other pro-testis genes, e.g. SOX family genes, or failure of pro-ovarian/anti-testis genes, such as WNT4 and RSPO1, may underlie the development of testicular tissue. Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed.
authors.affiliation: Centro de Investigaciones Endocrinolx00F3;gicas x2018;Dr. Cx00E9;sar Bergadx00E1;' (CEDIE), CONICET-FEI-Divisix00F3;n de Endocrinologx00ED;a, Hospital de Nix00F1;os Ricardo Gutix00E9;rrez, Buenos Aires, Argentina.
authors.forename: Romina P
authors.initials: RP
authors.lastname: Grinspon
authors.forename: Rodolfo A
authors.initials: RA
authors.lastname: Rey
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D050090:Ovotesticular Disorders of Sex Development / Q000378:metabolism* / Q000503:physiopathology; D055757:SOXE Transcription Factors / Q000235:genetics / Q000378:metabolism; D046468:Sexual Development / Q000235:genetics / Q000502:physiology; D013737:Testis / Q000254:growth & development / Q000378:metabolism*
chemical_list: D055757:SOXE Transcription Factors