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46,XY disorders of sex development in adolescents: V.I. Kulakov Center experience
https://doi.org/10.25557/2073-7998.2025.11.98-99
Abstract
Disorders of sex development (DSD) are a genetically and phenotypically heterogeneous group of developmental disorders characterized by phenotypic and chromosomal sex mismatch. In the period from 2022-2024, 34 adolescent female patients with DSD with karyotype 46,XY were admitted to the 2nd Gynecological Department of the Kulakov Center. The patients were analyzed for the presence of the SRY gene and, if positive, exome sequencing was performed to determine the monogenic cause of the disease. The genetic cause of DSD was determined in 26 of 34 patients (76% effectiveness).
Keywords
Supporting agencies: The study was supported by Russian Science Foundation Grant No 25-65-00040
About the Authors
N. S. Pavlova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
P. N. Tsabai
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
Z. Kh. Kumykova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
M. V. Kuznetsova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
Z. K. Batyrova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
I. A. Kiseleva
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
F. Sh. Mamedova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
A. Yu. Goltsov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
V. M. Kirillov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
O. O. Leukhina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
E. Shubina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
D. Yu. Trofimov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Oparina st., Moscow, 117997
References
1. Bertelloni S., Tyutyusheva N., Valiani M., et al. Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype. Front Pediatr. 2021;9:627281. doi: 10.3389/fped.2021.627281.
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3. Wisniewski A.B., Batista R.L., Costa E.M.F., et al. Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life. Endocr Rev. 2019;40(6):1547-1572. doi: 10.1210/er.2019-00049.
Review
For citations:
Pavlova N.S., Tsabai P.N., Kumykova Z.Kh., Kuznetsova M.V., Batyrova Z.K., Kiseleva I.A., Mamedova F.Sh., Goltsov A.Yu., Kirillov V.M., Leukhina O.O., Shubina E., Trofimov D.Yu. 46,XY disorders of sex development in adolescents: V.I. Kulakov Center experience. Medical Genetics. 2025;24(11):98-99. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.98-99
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