hrp0095p1-47 | Diabetes and Insulin | ESPE2022

Congenital hyperinsulinism: a case with a missense monoallelic heterozygous ABCC8 mutation responsive partially to diazoxide therapy

Tien Son Do , Phuong Thao Bui , Ngoc Khanh Nguyen , Thi Bich Ngoc Can , Hoang Lan Nguyen , Thi Tu Anh Dao , Trong Thanh Nguyen , Thi Thanh Mai Do , Thi Anh Thuong Tran , Chi Dung Vu

Congenital hyperinsulinism (CHI) is a rare hereditary condition that causes excessive insulin production in the clinical picture of severe hypoglycemia. Patients with CHI frequently have mutations in the ABCC8 and KCNJ11 genes, which code for KATP channels in pancreatic beta cells. We present a case of partial diazoxide responsiveness caused by a heterozygous ABCC8 mutation in a child with moderate CHI. A four-month-old term baby with a ...