hrp0097p1-93 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023
Lobotkova Denisa
, Minova Martina
, Ferenczova Juliana
, Dankovcikova Adriana
, Sevecova Maria
, Tarnokova Simona
, Huckova Miroslava
, Skopkova Martina
, Gasperikova Daniela
, Stanik Juraj
Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children and occurs in approximately 1 in 50,000 live births. Genetic testing provides information on the pancreatic histological subtype (i.e. focal vs diffuse) and determines further management and prognosis of the patients. At least 11 known monogenic forms and several syndromes have been associated with CHI. Mutations in ABCC8 and KCNJ11 genes coding pot...