Androgen insensitivity syndrome

Antonova A.A., Yamanova G.A., Nasonova I.A., Sheludko V.V., Abdurakhimova P.M.

Astrakhan State Medical University, Astrakhan, Russia

Androgen insensitivity syndrome is a genetic disorder caused by mutations in the androgen receptor gene in individuals with a 46XY karyotype, resulting in impaired androgen reception. Depending on the degree of androgen resistance, the syndrome is classified as complete, partial, and mild, manifesting a spectrum of virilization disorders, from a female phenotype to minimal signs of masculinization deficiency. In the complete form, characterized by absolute androgen insensitivity, normal external female genitalia are formed. The partial form is characterized by various genital anomalies, such as hypospadias or micropenis. In mild cases, the male phenotype develops normally; however, complications such as infertility and gynecomastia may occur during puberty.
A key issue in the management of patients with androgen insensitivity syndrome is determining gender, which determines subsequent medical management, including gonadectomy, hormone replacement therapy, and the extent of surgical interventions.
This review presents an analysis of the literature on the etiology, associated developmental anomalies, and genetic determinants of androgen insensitivity syndrome. Publications were searched and analyzed in the PUBMED, ScienceDirect, and E-library databases.

For citations: Antonova A.A., Yamanova G.A., Nasonova I.A., Sheludko V.V., Abdurakhimova P.M. Androgen insensitivity syndrome. Pharmateca. 2026;33(3):32-37. (In Russ.). DOI: https://dx.doi.org/10.18565/pharmateca.2026.3.32-37

Authors’ contribution: All authors made an equivalent contribution to the preparation of the publication.
Conflicts of interest: The authors confirm that they have no conflicts of interest to declare.
Funding: The study was conducted without any sponsorship.

Keywords

About the Authors

Alyona A. Antonova, Cand. Sci. (Med.), Associate Professor, Department of Hospital Pediatrics and Neonatology, Astrakhan State Medical University, Astrakhan, Russia; fduecn-2010@mail.ru, ORCID: https://orcid.org/0000-0003-2581-0408
Galina A. Yamanova, Teaching Assistant, Department of Normal Physiology, Astrakhan State Medical University, Astrakhan, Russia; galina_262@mail.ru, ORCID: https://orcid.org/0000-0003-2362-8979 (corresponding author)
Inna A. Nasonova, Teaching Assistant, Department of Anatomy, Astrakhan State Medical University, Astrakhan, Russia; inna.inna3@mail.ru,
ORCID: https://orcid.org/0009-0003-3632-7814
Victoria V. Sheludko, Cand. Sci. (Med.), Senior Lecturer, Department of Anatomy, Astrakhan State Medical University, Astrakhan, Russia; v.victorovna63@gmail.com, ORCID: https://orcid.org/0009-0003-0797-5038
Patimat M. Abdurakhimova, Student, Faculty of Pediatrics, Astrakhan State Medical University, Astrakhan, Russia; p.abdurakhimova@inbox.ru, ORCID: https://orcid.org/0000-0002-4381-7155