{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:48:47Z","timestamp":1793155727415,"version":"4.5.0"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p><jats:italic>HNF4A<\/jats:italic>-MODY is a rare subtype of MODY in children that requires treatment. The clinical features of children with <jats:italic>HNF4A<\/jats:italic>-MODY are limited. Adult patients with <jats:italic>HNF4A<\/jats:italic>-MODY are treated with insulin, diet, oral antidiabetic drugs, and incretin drugs. Our cross-sectional study presents the clinical features of 15 probands with genetically confirmed <jats:italic>HNF4A<\/jats:italic>-MODY from the pediatric registry of MODY in Russia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>This study presents the genetic, clinical, and laboratory characteristics of 15 children with <jats:italic>HNF4A<\/jats:italic>-MODY in the Russian population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The frequency of <jats:italic>HNF4A<\/jats:italic>-MODY was 1.8%, 95% CI [1.0, 3.0] among all pediatric MODY cases (<jats:italic>n<\/jats:italic> = 15\/807) in Russia. 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 (<jats:italic>p<\/jats:italic> &amp;lt; 0.05).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>We examined patients with <jats:italic>HNF4A<\/jats:italic>-MODY with a 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. Forty-three percent of patients were transferred successfully to sulfonylurea therapy (including patients with complete insulin withdrawal) following genetic testing and <jats:italic>HNF4A<\/jats:italic>-MODY verification. The attempt to switch from insulin to sulfonylurea drugs was unsuccessful due to significant glycemic deterioration in one case.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2025.1673182","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T04:17:20Z","timestamp":1759292240000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Diabetes mellitus HNF4A-MODY in children from the Russian population: clinical and genetic features"],"prefix":"10.3389","volume":"16","author":[{"given":"Elena A.","family":"Sechko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitry N.","family":"Laptev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariia P.","family":"Koltakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita 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