Objective: The aim of the retrospective study was to investigate the incidence of monogenic diabetes MODY (Maturity Onset Diabetes of the Young) in patients examined at the Department of Pediatrics, University Hospital in Pilsen in 2000-2017. 16 patients with monogenic diabetes were included in the study: 9 girls and 7 boys with an average age of 10.2 years (ranging from 3 to 17 years). Conclusions: The differential diagnosis in patients with impaired glucose tolerance or diabetes mellitus should include MODY diabetes.
Confirmation or ruling out of the gene mutation predicts disease progression and proper choice of therapy. Knowledge of the gene mutation enables disease detection in the presymptomatic phase in the affected families.