Abstract

A 12-year old girl with persistant hyperglycaemia was referred to a pediatric endocrinologist for further investigation and treatment. Her serum glucose levels had been elevated but stable (between 5-8 mmol/l) for years. She complained of tiredness and occasional head- and stomachaches. Treatment with low doses of insulin or glibenclamide revealed no differences in serum glucose levels. Maturity onset diabetes of the young (MODY) type 2 was suspected. The diagnosis was confirmed by genetic testing of the glucokinase gene which revealed  a mutation M251 I in exon 7. MODY 2 is characterized by non-ketotic and non-insulin-dependent diabetes with autosomal-dominant inheritance and early onset.
These patients have elevated but stable serum glucose levels without increased risk for late complications and therefore usually do not need any specific antidiabetic treatment. Early moleculargenetic diagnosis allows to apply appropriate follow-up and treatment.