Searchable abstracts of presentations at key conferences in endocrinology

ea0023oc5.4 | Oral Communications 5 | BSPED2009

Diabetes mellitus and hyperinsulinaemic hypoglycaemia (HH) due to dominant ABCC8/KCNJ11 mutations

Kapoor Ritika R , Flanagan Sarah E , McKiernan John , Shield Julian P , Tinker Andrew , Ellard Sian , Hussain Khalid

Background: The pancreatic β-cell KATP channel plays a key role in glucose stimulated insulin secretion and is encoded by the genes ABCC8 and KCNJ11. Recessive mutations in ABCC8/KCNJ11 cause severe medically unresponsive HH. Recently, dominant mutations in these genes have been described that cause mild, medically responsive HH. Controversy exists on whether these dominant ABCC8/KCNJ11 mutations predispose to diabetes mellitus in ad...