Beyond Type 1 Diabetes: Clinical and Genetic Clues to Glucokinase Maturity-Onset Diabetes of the Young in Children.

Authors

Burak Tula, Yasemin Denkboy Ongen, Ayca Aykut, Sehime Gulsun Temel, Asude Durmaz, Sebnem Ozemri Sag, Nurdeniz Nalbant, Erdal Eren

Published in

Turkish archives of pediatrics. Volume 61. Issue 10. Pages 886-895. Jul 20, 2026. Epub Jul 20, 2026.

Abstract

This study aimed to describe the clinical, laboratory, and genetic characteristics of children with genetically confirmed glucokinase maturity-onset diabetes of the young (GCK-MODY) in a single-center pediatric retrospective study.
In this study, the clinical, laboratory, and genetic results of 20 children under 18 years of age who were diagnosed with GCK-MODY genetically in the Department of Pediatric Endocrinology during 2012-2020 were retrospectively analyzed.
The most frequent presenting complaints were polyuria-polydipsia (n=6, 30%) and intermittent hyperglycemia (n=5, 25%). The median interval between initial evaluation and genetic diagnosis was 3.5 years (0.25-8.42). Before genetic confirmation, 35% (n=7) of the patients had been followed as having type 1 diabetes and were therefore treated with insulin. Mean HbA1c was 6.2% ± 0.63%, and diabetes-related autoantibodies were negative in all the patients with available results. Genetic testing identified missense variants in 95% and a frameshift variant in 5%. According to the pathogenicity assessment, 75% of variants were likely pathogenic missense variants, 20% were pathogenic missense variants, and 5% were pathogenic frameshift variants. The most common variant was c.943C>T (p.Leu315Phe), found in 45% of patients.
Diagnostic delay and inappropriate treatment were common before recognition of GCK-MODY, and many cases were identified after incidentally detected hyperglycemia. Lack of screening among relatives indicates limited awareness of this condition. In children with atypical diabetes presentations, careful evaluation and timely genetic testing are essential to prevent misdiagnosis, avoid unnecessary therapy, and ensure appropriate long-term clinical management.

PMID:
42826234
Bibliographic data and abstract were imported from PubMed on 03 Oct 2026.

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