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. Key words: SF-1 ; Gene mutation; Gonadal development
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