Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of

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. Results: Of the 44 cases included, 27 (61.4%) were male and the median age at diagnosis was 10.07 (1-16.8) years. There was a family history of diabetes in 42 (95.5%) cases. The distribution of gene variants was: 25 (55.8%) glucokinase (GCK), 4 (9.1%) hepatocyte nuclear factor-4-alpha, 4 (9.1%) carboxyl ester lipase, 2 (4.5%) B lymphocyte kinase, 4 (9.1%) ATP-binding cassette subfamily C member 8, 2 (4.5%) Kruppel-like factor 11, 1 (2.3%) insulin (INS), 1 (2.3%) potassium channel, inwardly rectifying, subfamily J member 11, and 1 (2.3%) adaptor protein, phosphotyrosine interaction, pH domain, and leucine zipper containing 1. At presentation, 23 (52.3%) of the cases had incidental hyperglycemia while 14 (31.8%) had polyuria and polydipsia. Diabetic ketoacidosis was detected in 4 (9.1%) and ketonemia in 3 (6.9%). At least one of the diabetes autoantibodies (anti-glutamate acid decarboxylase, anti-islet cell antibodies, anti-insulin autoantibodies) was detected in 11 (25%) cases, of which 7/11 were islet antibodies, and 5 patients (11%) had two autoantibodies positive simultaneously. In terms of treatment, 26 (59%) received diet and lifestyle changes only, 18 (41%) received oral antidiabetic agents and/or insulin, and 6 (13.6%) received both oral antidiabetic agents and insulin. Conclusion: The most common type of MODY in our cohort was GCK-MODY. Although MODY is generally known as an autoantibodynegative type of diabetes, autoantibody positivity was detected in 11 of 44 cases (25%) in the present study.