Clinical and Genetic Features of Maturity-onset Diabetes of the Young in Pediatric Patients: a 12-year Monocentric Experience

Abstract Background. A retrospective observational study was conducted to assess the prevalence of maturity onset diabetes of the young (MODY) in a large paediatric population of Southern Italy. Clinical and genetic features of the identified MODY patients were also described. Methods. Genetic testing was performed in children and adolescents newly diagnosed with diabetes who presented autoantibody negativity and fasting C-peptide levels ≥ 0.8 ng/mL. Patients with a low insulin daily dose and optimal glycaemic control after two years from diabetes onset were also investigated for monogenic diabetes, regardless of their autoimmunity status and/or C-peptide levels.Results. A prevalence of 6.5% of MODY was found. In particular, glucokinase-MODY was the most common type of MODY. The mean age at diagnosis was 9.1 years. Clinical presentation and biochemical data were heterogeneous also among patients belonging to the same MODY group. No clear criteria to screen patients eligible for diagnostic investigations were identified. Conclusions. Our findings highlight that a more detailed clinical evaluation of patients diagnosed with diabetes along with easier and less expensive approachability to genetic testing may allow diagnosing an increasing number of MODY cases. A correct, prompt diagnosis is crucial to choose the most appropriate treatment and offer adequate genetic counselling.