ESPE Abstracts

Background: Congenital Hyperinsulinism (CHI), a condition characterised by dysregulation of insulin secretion from the pancreatic beta cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycaemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI. Biallelic inactivating mutations (homozygous or compound heterozygous) in ABCC8 and KCNJ11 are know...