THE IMPORTANCE OF GENETIC MARKERS IN THE DIAGNOSIS OF HYPERANDROGENY SYNDROME IN WOMEN OF REPRODUCTIVE AGE

Abstract

Abstract: In our study, according to the sequencing analysis of the CYP21A2 gene, only single nucleotide polymorphism mutations were detected in patients with hyperandrogenism, and 3.97% (n=5) of them had a homozygous wild-type genotype, 46.8% (n=59) had a heterozygous genotype (there is one minor allele ) was confirmed. Among all identified polymorphism type mutations, only rs9378252 polymorphism proved to have a statistically reliable positive association between minor allele and heterozygous genotypes and the development of hyperandrogenism.
Keywords: hyperanrogenism, infertility, CYP21A2 gene, molecular genetic analysis, congenital adrenal hyperplasia.