ea0049ep725 | Paediatric endocrinology | ECE2017
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...