ESPE Abstracts

Backgrounds: Congenital hyperinsulinism (CHI) is a rare condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion. Biochemical evidence of insulin-induced hypoglycemia is a prerequisite for genetic testing; however, there are no established criteria for the age at diagnosis of CHI. This study aims to investigate the genetic and clinical features of patients with CHI in a single center.<p class="ab...

Objectives: Prader–Willi syndrome (PWS) is the most common genetic obesity disorder and results from lack of gene expression on paternally inherited chromosome 15q11.2-q13. We aim ed to delineate endocrinopathy in PWS patients during long-term follow up.Methods: A total of 71 patients with PWS were enrolled retrospectively from July 2009 to March 2020. Diagnoses were based on the clinical and genetic testing.<p...