Hyperinsulinaemic hypoglycaemia.

Insulin secretion from pancreatic ß-cells is tightly regulated to maintain fasting blood glucose level between 3.5-5.5 mmol/l. In hyperinsulinaemic hypoglycaemia (HH) insulin secretion becomes unregulated so that insulin secretion persists despite low blood glucose levels. HH can be due to a large number of causes and recent advances in genetics have begun to provide novel insights into the molecular mechanisms of HH. Defects in key genes involved in regulating insulin secretion have been linked to HH. The most severe forms of HH are clinically observed in the newborn period whereas in adults an insulinoma is the commonest cause of HH. This review provides an overview on the molecular mechanisms leading to HH in children and adults, it describes the clinical presentation and diagnosis, and finally the treatment options for the different forms of HH are discussed.