ABSTRACT
The term "maturity onset diabetes of the young" [MODY] describes a heterogeneous group of monogenic diabetes of which hepatic nuclear factor-1 alpha [HNF-1 alpha] MODY is the most common. Patients with HNF-1 alpha mutations typically present after puberty, and oral sulfonylureas [SU] have been shown to be effective in adults with this condition. A 7-year-old boy presented with asymptomatic hyperglycemia ranging between 6.2 and 10.1 mmol/L and glycosuria for nearly a year. The child's initial HbA [1c] was 6.9% and the pancreatic Islet cell autoantibodies were negative. His response to the oral glucose tolerance test [OGTT] showed a large increment of glucose from basal level of 7.7 to 21.1 mmol/L in 120 min. The mild presentation, family history, and negative autoantibodies were suggestive of HNF-1 alpha MODY, which was confirmed by mutation analysis. Initial management with diet alone was not sufficient, but he responded well to 20 mg oral gliclazide once a day with an improvement of HbA [1c] from 7.2% to 6.5% within 3 months of treatment. The case is an illustration of the clinical utility of molecular genetic tests in the management of childhood diabetes