Endocrine Abstracts

Introduction: Persistent endogenous hyperinsulinemic hypoglycemia in neonates (congenital hyperinsulinism; CHI) is usually due to monogenetic gene variants affecting the insulin secretion. The genetic cause is known in about 50% of patients. We present a new variant within the short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADH) gene causing CHI in two cousins.Methods: The cases of two patients with CHI are presented with a follow-up of >30 ...