Endocrine Abstracts

Congenital hypoglycemic hyperinsulinemia (CHI) is a clinical and genetic heterogeneous entity. Clinical manifestations can vary from serious life threatening to milder difficultly identifiable cases. Children who do not react adequate to medical treatment are subject to pancreatic recession. The molecular ethiology are from recessive mutations of the ABCC8 (SUR1) and KCNJ11 (Kir6.2) to dominant mutations of the GCK or GDH genes. Focal dysplasia char...

Background: Congenital Hyperinsulinism (CHI) is genetically unexplained today in up to 50% of the patients with persistent or recurrent disease. The uncoupling protein 2 (UCP2) gene is a candidate gene for medical-responsive CHI, since knock out studies have shown that UCP2 deficiency leads to increased glucose-stimulated insulin secretion.Patients and methods: In a large series of 142 patients with transient, persistent or recurrent CHI, we examined for...

Congenital hypoglycemic hyperinsulinemia (CHI) is a clinical and genetic heterogeneous entity. Clinical manifestations can vary from serious life threatening to milder difficultly identifiable cases. Children who don’t react adequate to medical treatment are subject to pancreatic recession. The molecular ethiology are from recessive mutations of the ABCC8 (SUR1) and KCNJ11 (Kir6.2) to dominant mutations of the GCK or GDH genes. Focal dysplasia ...

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...