Molecular genetics in pediatric endocrinology: 35 years of research
V. A. Peterkova,
O. B. Bezlepkina,
M. S. Pankratova,
I. S. Chugunov,
D. N. Laptev,
E. V. Nagaeva,
T. U. Shiryaeva,
A. A. Kolodkina,
L. S. Sozaeva,
E. V. Titovich,
A. V. Bolmasova,
T. L. Kuraeva https://doi.org/10.14341/probl13593
Abstract
Modern pediatric endocrinology represents the dawn of a new era in diagnosis and treatment, based on scientific research in molecular genetics and the development of advanced diagnostic and therapeutic tools. At the Pediatric Clinic of the En docrinology Research Centre (ERC), later the Institute of Pediatric Endocrinology, molecular genetic research began in 1990 in collaboration with the N.P. Bochkov Research Centre for Medical Genetics and the Institute of Immunology. The ERC’s Laboratory of Molecular Genetics has been operational since 2001, conducting research in partnership with foreign clinics and institutions.
About the Authors
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
O. B. Bezlepkina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Olga B. Bezlepkina, MD, PhD, Professor
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
M. S. Pankratova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Maria S. Pankratova, MD, PhD
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
D. N. Laptev
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Dmitry N. Laptev, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
E. V. Nagaeva
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Elena V. Nagaeva, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
T. U. Shiryaeva
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Tatiana U. Shiryaeva
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
A. A. Kolodkina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anna A. Kolodkina, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
L. S. Sozaeva
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Leila S. Sozaeva, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
E. V. Titovich
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Elena V. Titovich, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
A. V. Bolmasova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anna V. Bolmasova
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
T. L. Kuraeva
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Tamara L. Kuraeva, MD, PhD, Professor
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
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Supplementary files
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1. Figure 1. Evolution of molecular diagnostics development in the ERC. | |
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2. Figure 2. Number of molecular genetic studies in 2015–2024. | |
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3. Figure 3. Distribution of siblings in families with children with type 1 diabetes by genetic risk groups. | |
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4. Figure 4. Structure of monogenic forms of diabetes in children. | |
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5. Figure 5. Frequency of various forms of monogenic hypopituitarism. | |
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6. Figure 6. Genetic structure of primary adrenal insufficiency in girls | |
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7. Figure 7. Genetic structure of primary adrenal insufficiency in boys. | |
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8. Figure 8. Molecular genetic causes of hypogonadotropic hypogonadism in boys. | |
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9. Figure 9. Data from a molecular genetic study of patients with CGI. | |
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10. Figure 10. Changes in genes associated with congenital hypothyroidism depending on the topography of the thyroid gland. | |
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For citations:
Peterkova V.A., Bezlepkina O.B., Pankratova M.S., Chugunov I.S., Laptev D.N., Nagaeva E.V., Shiryaeva T.U., Kolodkina A.A., Sozaeva L.S., Titovich E.V., Bolmasova A.V., Kuraeva T.L. Molecular genetics in pediatric endocrinology: 35 years of research. Problems of Endocrinology. 2025;71(2):4-13. (In Russ.) https://doi.org/10.14341/probl13593
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