Hormonal and metabolic features of the androgenic phenotypes of polycystic ovary syndrome and non-classic adrenal hyperplasia with various polymorphic variants in the CYP17A1 gene

Abstract

The CYP17A1 gene encodes the most important stages of sex steroid biosynthesis by the adrenal glands and ovaries. The objective of this study was to evaluate the hormonal and metabolic status of patients with hyperandrogenia and the CYP17A1 rs743572 gene polymorphism. We examined 106 women with polycystic ovary syndrome androgen phenotypes A, B, and C and 28 women with latent non-classic congenital adrenal hyperplasia. It was found that there were no significant differences in the frequency of CYP17A1 alleles and genotypes between the three phenotype groups of patients with polycystic ovary syndrome. Body mass index and insulin resistance after glucose loading were comparable in individuals with these phenotypes of polycystic ovary syndrome. The CYP17A1 gene polymorphism in patients with different polycystic ovary syndrome phenotypes and in individuals with latent non-classic congenital adrenal hyperplasia did not associate with the concentration of estradiol and androgens in the blood. Neither did LH / FSH ratio differ between groups with different allelic variants of the CYP17A1 gene. These results show that patients with different polycystic ovary syndrome phenotypes do not require differentiated therapy. Serum levels of DHEA-S and cortisol were elevated in 38.7% of women with polycystic ovary syndrome without non-classic congenital adrenal hyperplasia, which indicates an adrenal cause of hyperandrogenia. We suppose that in the diagnosis of polycystic ovary syndrome, it is necessary to define not only phenotypes, but also a suprarenal source of androgens. The therapy of these patients may require application of corticosteroids besides the usual methods in planning of pregnancy.