Endocrine Abstracts

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...

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...