Genetics Forms of Congenital Hyperinsulinism

Congenital hyperinsulinism is a clinically and genetically heterogeneous group of disorders characterised by inappropriate insulin secretion that leads to hypoglycaemia. Rather than representing a single disease, HI comprises multiple distinct genetic conditions arising from pathogenic variants in an expanding list of genes.

Accurate identification of the underlying genetic cause is increasingly important because it can influence clinical management, including prognosis, responsiveness to medical therapy, the need for specific imaging such as 18F-DOPA PET-CT, surgical decision-making, dietary recommendations, and genetic counselling for families. Genetic diagnosis therefore not only clarifies the cause of the disease but also guides personalised treatment and long-term care strategies