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Genetic and epigenetic aspects of the central precocious puberty
https://doi.org/10.25557/2073-7998.2025.07.95-96
Abstract
Central or gonadotropin-dependent precocious puberty (CPP, ICD-10: Е22.8) occurs as a result of premature reactivation of the hypothalamicpituitary-gonadal axis and the appearance of secondary sexual characteristics in children under 8 years of age in girls and under 9 years of age in boys. The aim of this study is to determine the impact of genetic and epigenetic factors underlying the clinical phenotype of CPP. It was shown that CPP may be the result of the clinically significant genetic variants in the imprinted genes DLK1 and MKRN3 with a combined frequency of 11.5% and epigenetic factors (epimutations in the imprinting centers of DLK1 and MKRN3) with a combined frequency of 15.4%.
Supporting agencies: The study was supported by a grant from the Russian Science Foundation (No. 23-25-00359).
About the Authors
E. A. Sazhenova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
O. Yu. Vasilyeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
E. A. Fonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
M. B. Kankanam Patiranage
National Research Tomsk State University
Russian Federation
Russian Federation
36, Lenin Ave., Tomsk, 634050
A. Yu. Sambyalova
Scientific Center for Family Health and Human Reproduction
Russian Federation
Russian Federation
16, Timiryazeva st., Irkutsk, 664003
E. E. Khramova
Scientific Center for Family Health and Human Reproduction
Russian Federation
Russian Federation
16, Timiryazeva st., Irkutsk, 664003
L. V. Rychkova
Scientific Center for Family Health and Human Reproduction
Russian Federation
Russian Federation
16, Timiryazeva st., Irkutsk, 664003
A. A. Kashevarova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
S. A. Vasilyev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
References
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Review
For citations:
Sazhenova E.A., Vasilyeva O.Yu., Fonova E.A., Kankanam Patiranage M.B., Sambyalova A.Yu., Khramova E.E., Rychkova L.V., Kashevarova A.A., Vasilyev S.A., Lebedev I.N. Genetic and epigenetic aspects of the central precocious puberty. Medical Genetics. 2025;24(7):95-96. (In Russ.) https://doi.org/10.25557/2073-7998.2025.07.95-96
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