Congenital Hyperinsulinism Diagnosis and Management

Definition and Causes

• Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in neonates, representing dysregulated insulin secretion that fails to suppress appropriately during hypoglycemia, according to the American Academy of Pediatrics 1, 2
• The condition can result from mutations in KATP channel genes (KCNJ11, ABCC8), which is the most common cause, as stated by the American Diabetes Association 3, 4, 5

Genetic Testing and Management

• Genetic testing should be pursued immediately, as this is a permanent form of neonatal diabetes requiring specific genetic diagnosis, recommended by the American Diabetes Association 3, 4, 5
• Some forms of congenital hyperinsulinism (KATP-related) may respond to sulfonylureas, while others require different management strategies, according to the American Diabetes Association 3, 5