Article
Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair.
European journal of endocrinology - 1 Feb 2009
Turan Serap, Bereket Abdullah, Guran Tulay, Akcay Teoman, Papari-Zareei Mahboubeh, Auchus Richard J
Abstract excerpt
OBJECTIVE: 17-Hydroxylase/17,20-lyase deficiency (17OHD) results from mutations in the CYP17A1 gene, leading to failure to synthesize cortisol, adrenal androgens, and gonadal steroids. Adrenarche is a consequence of the increased production of adrenal androgens. Here, we report a case carrying no...
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