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 young (MODY) in a large paediatric population Southern Italy newly diagnosed with diabetes. Clinical and genetic features identified MODY patients were also described. Methods Genetic testing performed children adolescents who presented autoantibody negativity fasting C-peptide levels ≥ 0.8 ng/mL. Patients low insulin daily dose optimal glycaemic control after two years from investigated for monogenic diabetes, regardless their autoimmunity status and/or levels. Results 6.5% found. In particular, glucokinase-MODY most common type MODY. The mean age at diagnosis 9.1 years. presentation biochemical data heterogeneous among belonging same group. Conclusions We found relatively high new comparison literature data. Our findings highlight that more detailed clinical evaluation along easier less expensive approachability may allow diagnosing an increasing number cases. correct, prompt is crucial choose appropriate treatment offer adequate counselling.