Glucose is essential for cerebral metabolism. Knowledge of the homeostatic mechanisms that maintain blood glucose concentrations within a tight range is the key for diagnosis and appropriate management of hypoglycemia. Neonatal hypoglycemia can be transient and is commonly observed in at-risk infants. A wide range of rare endocrine and metabolic disorders can present with neonatal hypoglycemia, of which congenital hyperinsulinism (CHI) is responsible for the most severe form of hypoglycemia. The early recognition, diagnosis and immediate management of CHI is important as delay in the diagnosis and inappropriate management can lead to hypoglycaemic brain injury. CHI is a heterogeneous condition in terms of clinical presentation, histology and molecular genetics. CHI is characterised by inappropriate and unregulated insulin secretion from pancreatic β-cells in the presence of a low blood glucose concentration. The causes, pathophysiology, investigations and management of CHI will be discussed.
22 - 24 Nov 2017
British Society for Paediatric Endocrinology and Diabetes