CYP21A2 Mutations in Women with Polycystic Ovary Syndrome

The study investigated the presence of CYP21A2 gene mutations in 197 women with Polycystic Ovary Syndrome (PCOS) and compared the findings with 68 control women without PCOS and 497 newborns. The research found that 7.6% of the women with PCOS had heterozygous mutations in the CYP21A2 gene, which was not significantly different from the 5.9% in the control group or the 7.7% in the newborn population. No homozygous mutations were detected. The study concluded that heterozygous mutations in the CYP21A2 gene do not significantly contribute to the development of PCOS, and that a 17-hydroxyprogesterone level below 10 ng/ml after ACTH stimulation can rule out homozygosity for CYP21A2 mutations in a clinical diagnosis of PCOS.