A Variant of the Glucocorticoid Receptor Gene Is Not Associated with Adrenal Androgen Excess in Women with Polycystic Ovary Syndrome

The study investigated the prevalence of the N363S variant of the glucocorticoid receptor gene in 114 women with polycystic ovary syndrome (PCOS) and 92 healthy controls to assess its association with adrenal androgen (AA) excess. It was found that 5.5% of the PCOS patients carried the N363S mutation heterozygously, but there was no significant difference in allele frequency when comparing PCOS patients with and without AA excess to the control group. No subjects were homozygous for the N363S allele. The study concluded that the N363S variant is not common and does not significantly contribute to the genetic predisposition to PCOS or AA excess in women with PCOS.