hrp0098p2-346 | Late Breaking | ESPE2024
Beka Elpiniki
, Cheng Lauren
, Cunjamalay Annaruby
, Alhusaini Fatemah
, Amin Rakesh
, Peters Catherine
, Dastamani Antonia
Background: Compound heterozygous or homozygous recessive variants within the ABCC8 and KCNJ11 genes represent common genetic aetiologies for Congenital Hyperinsulinism (CHI). These variants are associated with a severe diffuse form of the disease, often refractory to medical management, necessitating near-total pancreatectomy. Post-surgery, patients may develop diabetes mellitus (DM) and pancreatic exocrine insufficiency (PEI), necessitating...