Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess.

Objective: To determine whether frequencies of the mutations in the 21-hydroxylase (CYP21) gene and the G972R variant of the insulin receptor substrate-1 (IRS1) gene are increased in women with polycystic ovary syndrome (PCOS) and adrenal androgen (AA) excess.

Design: Prospective case-control study.

Setting: University reproductive endocrinology laboratory and outpatient clinic.

Role of a CYP17 polymorphism in the regulation of circulating dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome.

We studied 259 consecutive unselected white patients with the polycystic ovary syndrome (PCOS) and 161 matched controls for a common polymorphism of CYP17, the gene encoding for P450c17alpha, and did not observe an important modulatory effect of this variant on circulating DHEAS. It does not appear that this common variant of CYP17, a T to C substitution in the 5' promoter region, plays a significant role in the adrenal androgen excess of PCOS.