Maturity-Onset Diabetes of the Young (MODY) in Children with Incidental Hyperglycemia. A Multicenter Italian Study on 172 families

Objective: To investigate MODY prevalence in Italian children with incidental hyperglycemia. Research design and methods: Among 748 subjects with incidental hyperglycemia aged 1-18 years minimal diagnostic criteria for MODY were met by 172 families. Mutational analysis of the glucokinase (GCK) and hepatocyte nuclear factor 1-alpha (HNF1Alpha) genes was performed. Results: We identified 85 GCK gene mutations in 109 probands and 10 HNF1Alpha mutations in 12 probands. In GCK patients the median neonatal weight and age at the first evaluation were lower than those found in patients with HNF1A mutations. Median FPG and IFG/IGT frequency after OGTT were higher in GCK patients, who also showed a lower frequency of diabetes mellitus than HNF1A patients. Conclusions: GCK mutations are the prevailing cause of MODY (63.4%) when the index case is recruited in Italian children with incidental hyperglycemia.