congenital isolated hyperinsulinism
Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.
MONDO:0007834
islet cell adenomatosis
is_a
MONDO:0017182
familial hyperinsulinism
is_a
MONDO:0019716
overgrowth syndrome
is_a
Congenital Hyperinsulinism
exact
PHHI
exact
chi
exact
congenital hyperinsulinism
related
hyperinsulinemic hypoglycemia familial
related
hyperinsulinism congenital
related
hyperinsulinism familial with pancreatic nesidioblastosis
related
hypoglycemia hyperinsulinemic of infancy
related
persistent hyperinsulinemic hypoglycemia of infancy
exact
SPAC4F8.07c SPCC132.04c SPAC24H6.04 SPCC622.12c