SF-1 gene mutation and gonad development
10.3760/cma.j.issn.1673-4408.2010.06.027
- VernacularTitle:孤核受体类固醇生成因子-1缺陷与性腺发育
- Author:
Ye CHEN
- Publication Type:Journal Article
- Keywords:
SF-1;
Gene mutation;
Gonadal development
- From:
International Journal of Pediatrics
2010;37(6):631-633
- CountryChina
- Language:Chinese
-
Abstract:
Orphan nuclear receptor steroidogenic factor 1 (SF-1) is a member of the nuclear receptor superfamily. It regulates the expression of multiple genes involved in adrenal and gonadal development,steroidogenesis,and reproductive function. Twenty five different mutations have been described and their clinical features are various. Detection of SF-1 gene may be contribute to the etiological diagnosis for 46, XY disorder of sex development patients.
