Neonatal Screening for Congenital Adrenal Hyperplasia in Russia: A Decade of Outcomes (2015–2025) and Lessons from Clinical Cases
M. V. Vorontsova,
I. S. Chugunov,
I. V. Kopylova,
A. E. Shapovalova,
A. M. Gorbacheva,
V. A. Peterkova,
N. G. Mokrysheva https://doi.org/10.14341/probl13758
Abstract
Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Russia since 2006. An analysis of results from 2015–2025, covering 15,546,274 newborns, identified 1,871 children with classic forms of 21-hydroxylase deficiency. The average detection rate was 1:8,309 (0.012% or 1,20 per 10 000 per year) with annual variations ranging from 1.03 to 1.48 per 10,000 newborns per year. Significant interregional variability in incidence was observed, with the highest rates recorded in the Karachay-Cherkess Republic (6.16/10,000 per year), Leningrad Oblast (4.04/10,000 per year), and Primorsky Krai (3.07/10,000 per year). Among federal districts, the Urals Federal District ranked highest. The timing of diagnosis leads to critical differences in outcomes, including the risk for adrenal crisis. Newborn screening confirms its high efficiency, and the identified regional variations underscore the need for further population genetic studies to optimize medical genetic counseling.
About the Authors
M. V. Vorontsova
Lomonosov Moscow State University
Russian Federation
Competing Interests:
Russian Federation
Maria V. Vorontsova
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
I. S. Chugunov
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Igor S. Chugunov, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
I. V. Kopylova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Irina V. Kopylova, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
A. E. Shapovalova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anna E. Shapovalova, MD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
A. M. Gorbacheva
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anna M. Gorbacheva, MD, PhD
11 Dm. Ulyanova street, Moscow, 117036
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
V. A. Peterkova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Valentina A. Peterkova, PhD, professor, academician of RAS
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
N. G. Mokrysheva
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Natalia G. Mokrysheva, MD, PhD, Professor, academician of RAS
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
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1. Figure 1. Overall incidence of congenital aneurysms in the Russian Federation in 2015–2025, people. | |
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2. Figure 2. Incidence of congenital aneurysms in Russia in 2015–2025 per 10,000 newborns per year. | |
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3. Figure 3. Relative incidence of congenital aneurysms in 2015–2025 by constituent entities of the Russian Federation, per 10,000 newborns per year. | |
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4. Figure 4. Absolute incidence of congenital aneurysms in Russia in 2015–2025 according to neonatal screening data by federal district, people per year. | |
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5. Figure 5. Relative incidence of congenital aneurysms in Russia in 2015–2025 according to neonatal screening data by federal district, % of screened newborns. | |
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6. Figure 6. Bilateral TARTs in patient S. with VDCH. | |
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For citations:
Vorontsova M.V., Chugunov I.S., Kopylova I.V., Shapovalova A.E., Gorbacheva A.M., Peterkova V.A., Mokrysheva N.G. Neonatal Screening for Congenital Adrenal Hyperplasia in Russia: A Decade of Outcomes (2015–2025) and Lessons from Clinical Cases. Problems of Endocrinology. 2026;72(2):4-12. (In Russ.) https://doi.org/10.14341/probl13758
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