Hyperinsulinism

Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and the most common cause persistent hypoglycemia in children. Knowledge normal glucose homeostasis allows for better understanding underlying pathophysiology hyperinsulinemic hypoglycemia, facilitating timely diagnosis management. The goal management to prevent cerebral insults secondary which can result poor neurologic outcomes intellectual disability. Responsiveness diazoxide, first-line pharmacologic therapy also first step distinguishing different genotypic causes hyperinsulinism. Early testing becomes necessary when HI strongly considered. specific gene mutations determination clinical prognosis definite therapeutic options, such as identifying those with focal forms hyperinsulinism, who may attain complete cure through surgical removal affected parts pancreas. However, lack identifiable considerable number patients identified suggests there be other loci that are yet discovered. Furthermore, continued research needed explore new therapy, particularly severe, diazoxide-nonresponsive cases.