An update on congenital hyperinsulinism: advances in diagnosis and management

Abstract

Introduction: Congenital hyperinsulinism (CHI) is the term used for hyperinsulinemic hypoglycemia due to a primary defect of the pancreatic β-cell owing to genetic causes. Severe CHI is responsible for recurrent severe hypoglycemia in neonates. A delayed diagnosis or improper medical management is responsible for brain damage in approximately one-third of patients. Areas covered: From the experiences of the authors and an extensive review of the literature, this review aims to offer a precise overview of the current knowledge in the field of CHI, including the latest updates, and a description of the current medical and surgical management proposed in referral centers for CHI worldwide. Expert opinion: Despite satisfactory care of the focal form of CHI, severe diffuse CHI is a burden for patients and families, and a subtotal pancreatectomy only offers a short-term respite, since insulin requiring diabetes is the unavoidable outcome. A better understanding of the disease mechanisms (e.g., concerning spontaneous remission) and the development of new therapeutic tools should lead to a safe conservative approach for severe, focal and diffuse CHI.