ESPE Abstracts

Congenital hyperinsulinism (CHI) is a rare inherited disease characterized by dysregulated insulin secretion from pancreatic β-cells leading to profound and recurrent hypoglycemia. The incidence of the disease in most countries worldwide is about 1 in 50000 newborns, and more frequent in countries with high consanguinity. Recurrent hypoglycemia can lead to neurological insult and permanent brain injury.In Kosova in the last 15 years there were 4 ...

Backgorund: Neonatal diabetes is a rare genetic condition with multiple mechanisms, some of them diagnosed in molecular levels.Objectives: To present the incidence, genetics, clinical phenotype and treatment in permanent neonatal diabetes in Kosova.Methods: Patients with PNDM that were identified between 2007 and 2022 were clinically phenotyped and gene sequencing of ABCC8, KCNJ11 ...