Endocrine Abstracts

Congenital hyperinsulinism of infancy (CHI) is a rare disorder of insulin dysregulation, resulting in persistent hypoglycaemia and its sequelae. More than half of patients have loss-of-function mutations in ABCC8 or KCNJ11 genes encoding subunits of ATP-sensitive potassium (KATP) channels. Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic loss of maternal heterozygos...