Article
Phenotypic features associated with mutations in steroidogenic acute regulatory protein.
The Journal of clinical endocrinology and metabolism - 1 Nov 2005
Bhangoo Amrit, Gu Wen-Xia, Pavlakis Steven, Anhalt Henry, Heier Linda, Ten Svetlana, Jameson J Larry
Abstract excerpt
CONTEXT: Mutations in the gene encoding steroidogenic acute regulatory protein (StAR) are the most common cause of lipoid congenital adrenal hyperplasia (lipoid CAH), a disorder characterized by adrenal insufficiency and deficient gonadal steroid synthesis, resulting in female external genitalia in both genetic sexes. OBJECTIVE: We describe three new cases of lipoid CAH caused by novel mutations in the StAR gene....
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