hrp0098p3-287 | Late Breaking | ESPE2024
Ferreira Madalena
, Yang Tong
, Câmara Beatriz
, Cabral Mafalda
, Simões Anabela
, Monteiro Arminda
, Lopes Lurdes
, Galhardo Júlia
Introduction: The ABCC8 gene encodes the SUR1 subunit of the ATP-sensitive potassium channel (K-ATP) in pancreatic beta cells, a key pathway in insulin secretion. Mutations in this gene are associated with neonatal diabetes (ND), and congenital hyperinsulinism (CHI).Description: Cases 1 and 2 Two male monozygotic twins, with no significant medical history, developed persistent non acidotic ketotic hyperg...