14-Year Follow-up of a MODY3 Patient with HNF1A/P291fsinsC

Abstract

A 27-year-old woman, who presented with glycosuria at the age of 12, had shown impaired glucose tolerance with decreased insulin secretion on 75 gOGTT at the age of 13. She had a family history of diabetes from both her father and paternal grandmother. She had developed diabetes mellitus and was diagnosed as having MODY3 with HNF1A/P291fsinsC mutation at the age of 14. She had been treated with diet modification until the age of 27 when she was admitted to our department because of an elevated HbA1c level of 6.5 %. She showed a decrease in CPR response (ΔCPR from 0.8 ng/ml to 1.8 ng/ml) on glucagon loading and showed a marked elevation of glucagon response (IRG from 133 pg/ml to 600 pg/ml) on arginine loading. Due to these results, insulin treatment was initiated. In addition, no diabetic complications have been detected until now. This report discusses the variance of clinical features in patients with the same MODY3 mutation. The clinical characteristics of MODY3 with HNF1A/P291fsinsC in our case are relatively milder over more than ten years of diabetes than those reported in the literature.