ea0070aep253 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020
Widmer Andrea
, Zumsteg Urs
, Szinnai Gabor
, Filges Isabel
, Meier Stephanie
, Marie Carmen De Geyter Julie
, Antwi Kwadwo
, Nuoffer Jean-Marc
, Wild Damian
, Christ Emanuel
Introduction: Persistent endogenous hyperinsulinemic hypoglycemia in neonates (congenital hyperinsulinism; CHI) is usually due to monogenetic gene variants affecting the insulin secretion. The genetic cause is known in about 50% of patients. We present a new variant within the short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADH) gene causing CHI in two cousins.Methods: The cases of two patients with CHI are presented with a follow-up of >30 ...