Molecular Genetic Aspects of Hyperandrogenism

Molecular Genetic Aspects of Hyperandrogenism Full article

Journal

Cell and Tissue Biology
ISSN: 1990-5203 , E-ISSN: 1990-519X

Output data

Year: 2026, Volume: 20, Number: 3, Pages: S1-S14 Pages count : DOI: 10.1134/S1990519X26600882

Authors

Osinovskaya NS ¹ , Lazareva TE ¹ , Kruglova EE ¹ , Glavnova OB ¹ , Yarmolinskaya MI ¹ , Smirnova YuA ¹ , Glotov AS ¹

Affiliations

1	D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology

Funding (1)

15.БРК.25.06

Non-classical forms of CAH present with a non-specific clinical picture and a limited set of symptoms characteristic of hyperandrogenism. Hyperandrogenism may arise from mutations harboured in steroidogenesis genes. Current evidence suggests several plausible mechanisms for hyperandrogenism. The present work aimed to investigate the genetic factors associated with the manifestation of hyperandrogenism. PCR and NGS were used to analyse polymorphisms of the CYP21A2, CYP11B1, STAR, CYP11A1, CYP17A1, POR, and HSD3B2 genes in 99 women with hyperandrogenism and in 46 control women. No pathogenic variants were identified in the CYP11B1, STAR, CYP11A1, CYP17A1, POR, or HSD3B2 genes. The distribution of benign variants did not differ statistically significantly between the group of women with hyperandrogenism and the control group. In patients with hyperandrogenism, five combinations of benign variants were found in the CYP21A2 gene that were absent from the control group. Five female patients with homozygous or compound heterozygous mutations in the CYP21A2 gene were diagnosed with CAH. The group of women with hyperandrogenism differed statistically significantly from the control group in the frequency of heterozygous carriage of pathogenic variants in the CYP21A2 gene. Our findings suggest that the key factors triggering adrenal hyperandrogenism include compound heterozygosity, symptomatic manifestation in heterozygous carriers, and the modulating effect of complex CYP21A2 allelic combinations. The study of gene polymorphisms provides insight into the effect of mutations in genes encoding enzymes that transform steroid hormones, and will in future permit the development of targeted therapy aimed at overcoming the causes of hyperandrogenism.

Osinovskaya N. , Lazareva T. , Kruglova E. , Glavnova O. , Yarmolinskaya M. , Smirnova Y. , Glotov A.
Molecular Genetic Aspects of Hyperandrogenism
Cell and Tissue Biology. 2026. V.20. N3. P.S1-S14. DOI: 10.1134/S1990519X26600882

Submitted:	Jul 9, 2026
Accepted:	Sep 10, 2026

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