ORIGINAL RESEARCH article
Front. Endocrinol.
Sec. Clinical Diabetes
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1673182
This article is part of the Research TopicGenetic Mechanisms in Diabetes PathogenesisView all 8 articles
DIABETES MELLITUS HNF4A-MODY IN CHILDREN FROM THE RUSSIAN POPULATION: CLINICAL AND GENETIC FEATURES
Provisionally accepted
Elena Sechko*Dmitry Laptev
Mariya Koltakova*
Rita Khusainova
Ildar Ramilevich MinniakhmetovTamara KuraevaIrina EreminaElena TitovichOlga BezlepkinaValentina Peterkova- Endocrinology Research Center, Moscow, Russia
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Introduction. HNF4A-MODY is a rare subtype of MODY in children that requires treatment. The clinical features of children with HNF4A-MODY are limited. Adult patients with HNF4A-MODY are treated with insulin, diet, oral antidiabetic drug (OAD) and incretin drugs. Our cross-sectional study presents the clinical features of 15 probands with genetically confirmed HNF4A-MODY from the pediatric registry of MODY in Russia. Materials and Methods. This study presents the genetic, clinical, and laboratory characteristics of 15 children with HNF4A-MODY in the Russian population. Results. The frequency of HNF4A-MODY was 1.8%, 95% CI [1.0; 3.0] among all pediatric MODY cases (n=15/807) in Russian. The median age at diagnosis was 12.8 years [12.1; 14.0]. Hyperglycemia was diagnosed incidentally in 71,5% of cases. Glycated hemoglobin (HbA1c) was 8.0% [7.0; 9.2]. At birth, macrosomia was present in 35.7% of patients and hypoglycemia in 7%. Family history was positive in 57,1%, with DM diagnosed in first-degree relatives at age 29 [27.3; 32.8] years in 50% of cases, which was significantly different from the age of DM diagnosis in their children (p<0.05). Discussion. We examined patients with HNF4A-MODY duration of 1.2 [0.8; 1.9] years. The degree of hyperglycemia in all patients met the diagnostic criteria for DM. Molecular genetic testing revealed a high percentage of deletions and nonsense variants (28.5% each). 64.5% of patients were prescribed drug therapy (21% insulin, 43% metformin) at the onset of diabetes. 43% of patients were transferred successfully to sulfonylurea therapy (including patient with complete insulin withdrawal) following genetic testing and HNF4A-MODY verification. The attempt to switch from insulin to sulfonylurea drugs was unsuccessful due to significant glycemic deterioration in one case.
Keywords: gene HNF4A, monogenic diabetes mellitus in children, MODY, NGS, MODY1
Received: 25 Jul 2025; Accepted: 12 Sep 2025.
Copyright: © 2025 Sechko, Laptev, Koltakova, Khusainova, Minniakhmetov, Kuraeva, Eremina, Titovich, Bezlepkina and Peterkova. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Elena Sechko, Endocrinology Research Center, Moscow, Russia
Mariya Koltakova, Endocrinology Research Center, Moscow, Russia
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