Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep725 | Paediatric endocrinology | ECE2017

Congenital hyperinsulinism in two siblings due to the same ABCC8 mutation: the clinical importance of an early diagnosis and treatment

Santos Francisco Sousa , Simoes Helder , Castro-Feijoo Lidia , Rodriguez Paloma Cabanas , Fernandez-Marmiesse Ana , Fiano Rebeca Saborido , Rego Teresa , Carracedo Angel , Conde Jesus Barreiro

Introduction: Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. It can present as focal or diffuse pancreatic disease, which is mainly determined by the genotype. Diazoxide is the first-line medication in diffuse cases, however many do not respond satisfactory. Second-line options include somatostatin analogues and surgery, which is curative in case of focal CHI.<p...