Searchable abstracts of presentations at key conferences in endocrinology

ea0011p283 | Diabetes, metabolism and cardiovascular | ECE2006

A TCF1 mutation may cause transient congenital hyperinsulinism followed by MODY3

Brusgaard K , Christesen HBT , Hansen T , Njölstad P , Malec J , Brock Jacobsen B

In congenital hyperinsulinism (CHI), mutations have been found in 5 different genes, ABCC8, KCNJ11, GCK, GLUD1 and SCHAD. In approximately 50% of all cases, however, no genetic explanation can be found.A mature newborn girl presented macrosomic, birth weight 4378 g, and a blood glucose down to 1.3 mmol/l at day 1. Hyperinsulinism was documented. The child responded to diazoxide treatment, initially in combination with prednisolone, chlorothiazide and oct...

ea0011p356 | Diabetes, metabolism and cardiovascular | ECE2006

Noninsulinoma pancreatogenous hypoglycaemia syndrome (NIPHS) caused by an activating glucokinase mutation

Christesen HBT , Brusgaard K , Beck-Nielsen H , Malec J , Brock Jacobsen B

NIPHS is a rare cause of adult onset hyperinsulinaemic hypoglycaemia with islet hypertrophy/nesidioblastosis, but without mutations in the ABBC8 and KCNJ11 genes coding for the beta cell KATP-channel subunits SUR1 and Kir6.2. NIPHS patients with GCK mutations have never been described.We report of a 42-y-old woman with asymptomatic hypoglycaemia down to 2.9 mmol/l with simultaneous p-insulin 208 pmol/l (12–77 pmol/l), p-C-peptide 1574 pmo...