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Original Article | Pediatrics | Volume 15 Issue 3, March 2026 | Pages: 795 - 800 | Iraq
Molecular Genetic Evaluation of Hyperinsulinemia in Children: A Cross-Sectional Study
Abstract: Background: Congenital hyperinsulinism (CHI) is the most prevalent cause of persistent hypoglycemia in neonates and infants. It is characterized by uncontrolled insulin secretion from pancreatic ?-cells. Early diagnosis is essential to prevent irreversible brain damage. Aim of the Study: To identify the molecular genetic variants responsible for congenital hyperinsulinism in children and to assess their correlation with clinical presentation and response to treatment. Patients and Methods: In a cross-sectional study, 16 children (aged 1 day to 8 years) with biochemically proven hyperinsulinemic hypoglycemia participated. Whole exome sequencing was performed on genomic DNA isolated from peripheral blood at an accredited next-generation sequencing laboratory. Variant interpretation was in accordance with current guidelines for pathogenicity. Results: Genetic variants that were pathogenic/likely pathogenic and related to CHI were found in 10 (62.5%) out of 16 patients. The genes that were most prevalent regarding the presence of variants were ATP Binding Cassette Subfamily C Member 8 (ABCC8) (43.8%), Glutamate Dehydrogenase 1 (GLUD1), Hydroxyacyl-CoA Dehydrogenase (HADH), and Hepatocyte Nuclear Factor 1 Alpha (HNF1A) (6.3% each). There was a significant association between early-onset CHI, particularly during the neonatal/infantile period, and the presence of pathogenic variants, particularly those involving the ABCC8 gene. The presence of genetic variants was significantly higher among patients who responded to antidiabetic therapy. Conclusion: CHI shows significant molecular diversity, but ABCC8 mutations are the most prevalent cause. Exome sequencing can be used in the diagnosis of CHI, helping in therapeutic choices and in characterizing CHI, even if some CHI patients present unresolved genetic issues.
Keywords: Congenital hyperinsulinism, Whole-exome sequencing, ABCC8, GLUD1, HADH, HNF1A, Hypoglycemia
How to Cite?: Sabah Hassan Ali Alatwani, "Molecular Genetic Evaluation of Hyperinsulinemia in Children: A Cross-Sectional Study", Volume 15 Issue 3, March 2026, International Journal of Science and Research (IJSR), Pages: 795-800, https://www.ijsr.net/getabstract.php?paperid=SR26306155718, DOI: https://dx.dx.doi.org/10.21275/SR26306155718