Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Objective: Maturity-onset diabetes of the young (MODY) represents a genetically and clinically heterogeneous form of monogenic diabetes caused by defects in pancreatic β-cell function. Accurate molecular diagnosis is essential for distinguishing MODY from type 1 and type 2 diabetes, enabling precision-based management and targeted therapy. This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the prevalence of common and rare subtypes, and to report novel pathogenic variants identified in a Turkish cohort. Methods: This single-center, retrospective cohort study evaluated 81 pediatric patients with suspected MODY followed between 2022 and 2025. Genetic analysis was performed using targeted next-generation sequencing (NGS) panels, including Results: Genetic variants were identified in 25 of 81 patients (30.9%), including pathogenic, likely pathogenic, and variants of uncertain significance (VUS). Of these, 22 variants were classified as pathogenic or likely pathogenic, corresponding to a diagnostic yield of 27.2%. The most frequently affected gene was Conclusion: This study underscores the clinical and genetic heterogeneity of MODY in the pediatric population and reinforces the value of comprehensive NGS panels for accurate diagnosis, even in patients who do not fully meet classical MODY criteria. The identification of novel