PRENATAL STUDY IN FAMILY WITH SALT-WASTING FORM OF CONGENITAL ADRENAL HYPERPLASIA
https://doi.org/10.35266/2949-3447-2025-4-9
Abstract
The article describes a case of prenatal molecular genetic testing performed at 11 weeks and 2 days of gestation in a family that includes a proband who has a salt-wasting form of congenital adrenal hyperplasia. The authors aim to conduct a molecular prenatal study based on the proband’s identified pathogenic variants in the gene CYP21A2 as part of genetic counseling given the 25% potential risk of giving birth to a neonate with congenital adrenal hyperplasia. As a result, the molecular genetic testing reveals the following pathogenic variants in the gene CYP21A2: R357W (rs7769409) and Q319X (rs7755898) in a heterozygous state. The analysis of pathogenic variant inheritance confirms that the risk of the fetus having congenital adrenal hyperplasia is minimal.
Supporting agencies: The article is prepared within the exploratory scientific research PNI No. 1024062500021-3- 3.2.2. “Sozdanie innovatsionnykh podkhodov v oblasti vspomogatelnykh reproduktivnykh tekhnologiy cheloveka s primeneniem biobankirovaniya i importozameshchayushchikh geneticheskikh, regenerativnykh i embriologicheskikh platform”.
About the Authors
N. S. Osinovskaya
Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott, Saint Petersburg
Russian Federation
Russian Federation
Candidate of Sciences (Biology), Senior Researcher
Yu. A. Nasykhova
Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott, Saint Petersburg
Russian Federation
Russian Federation
Candidate of Sciences (Biology), Head
N. I. Tapilskaya
Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott, Saint Petersburg
Russian Federation
Russian Federation
Doctor of Sciences (Medicine), Professor, Head
A. S. Glotov
Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott, Saint Petersburg
Russian Federation
Russian Federation
Doctor of Sciences (Biology), Head
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Review
For citations:
Osinovskaya N.S., Nasykhova Yu.A., Tapilskaya N.I., Glotov A.S. PRENATAL STUDY IN FAMILY WITH SALT-WASTING FORM OF CONGENITAL ADRENAL HYPERPLASIA. Vestnik SurGU. Meditsina. 2025;18(4):70-73. (In Russ.) https://doi.org/10.35266/2949-3447-2025-4-9
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