Introduction and Objective: Maturity Onset Diabetes of the Young (MODY) is an underrecognized and misdiagnosed form of diabetes that refers to a group of single gene causes of diabetes with a strong autosomal dominant inheritance. Fourteen (14) gene mutations have been identified accounting for 1-5% of all diabetes cases. Identification of MODY is necessary for effective management. We aimed to characterize patients with MODY by analyzing their genetic, clinical, and demographic profiles.Methods: A retrospective chart review from 2016-2025 identified patients with evidence of diabetes atypical for T1D/T2D that had MODY based on genetic testing results. Descriptive analyses assessed cohort demographics, genetic testing, and phenotype-genotype associations from EHR.Results: Forty-six patients were analyzed (mean age: 13 ± 4.2 years). The cohort was predominantly Hispanic (72%) and female (61%), with 78% having a family history of diabetes. GCK mutations were most common (59%) followed by HNF1A (13%), HNF1B (11%), and PDX1 (7%). Table further describes sample characteristics.Conclusion: Proper identification of genetic diabetes is crucial to prevent misdiagnosis and inappropriate treatment. GCK mutations cause elevated HbA1c but rarely require medication, while HNF4A and HNF1A forms benefit from sulfonylureas as first-line therapy. Genetic testing should guide treatment and counseling, especially in patients with atypical diabetes or family history.
C.M. de Almagro: Consultant; Ended; Sanofi. A. Granados: None. J. Verme: None. A. Carrillo Iregui: Consultant; Ended; Sanofi, MannKind Corporation.
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