Genotype, phenotype, and clinical characteristics of maturity-onset diabetes of the young (MODY): predominance of GCK-MODY

Abstract

Objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterised by early-onset diabetes and inherited in an autosomal dominant manner. MODY results from heterozygous mutations in genes important for pancreatic β-cell development or function. The objective was to identify the most common and rarest types of MODY amongst our cases with genetically confirmed MODY diagnosis, to evaluate clinical and laboratory features and treatment regimens. Methods: The epidemiological, auxological, and laboratory data, genetic analysis results and treatment regimens of patients diagnosed with MODY were retrospectively evaluated.