Genetic Pathogenesis and Treatment of Forkhead Box A2 Hyperinsulinemia

Congenital hyperinsulinemia (CHI) is a clinically heterogeneous disorder that is the leading cause of persistent and recurrent hypoglycemia in infancy and childhood. There are 39 pathogenic genes associated with CHI. The forkhead box A2 (FOXA2) gene variants that induce forkhead box A2 hyperinsulinemia (FOXA2-HI) are extremely rare. This review describes the genetic pathogenesis and treatment progress of FOXA2-HI to improve clinicians' understanding of the disease.