hrp0092p3-53 | Diabetes and Insulin | ESPE2019

A Case of Congenital Hyperinsulinism due to ABCC8 Mutation: A Challenge to Diagnosis, Management, and Treatment

Karabouta Zacharoula , Rouga Elena , Nakouti Eleni , Bisbinas Vasiliki , Giannopoulos Andreas

Introduction: Congenital hyperinsulinism(CHI) is a rare complex disorder of hypoglycaemia attributable to inappropriate and dysregulated insulin secretion from the pancreas with an incidence of 1:50 000(1:2500 in consanguineous populations). Genetics involves defects mainly in the KATP channel genes ABCC8 and KCNJ11.Aim: We describe a male infant, presented with refractory hypoglycaemia the first week of life.<p clas...