hrp0095p1-289 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Novel Mutations in GLIS3/TRMT10a As A Cause Of Congenital Hyperinsulinism

Krishnamurthy Mansa , Deng Lily , Lozano Claudia , Kraus Jonathan , Wells James

Introduction: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders characterized by hypoglycemia and inappropriate insulin secretion. Prompt identification of CHI and its genetic causes are essential to minimize the risk of permanent neurological damage as well as guide treatment options for these patients. Although, there are 15 known monogenic forms of CHI, there remain 50% of patients without an identified genetic diagnosis, suggesting tha...