期刊
SEXUAL DEVELOPMENT
卷 10, 期 1, 页码 1-11出版社
KARGER
DOI: 10.1159/000445088
关键词
Disorders of sex development; SRY; XX maleness
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. (C) 2016 S. Karger AG, Basel
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