hrp0086p1-p554 | Perinatal Endocrinology P1 | ESPE2016

Clinical and Molecular Characteristics of Turkish Patients with Congenital Hyperinsulinism: A Single-Center Experience

Yildiz Melek , Akcay Teoman , Mutlu Neval , Akgun Abdurrahman , Onal Hasan , Ulucan Korkut , Ellard Sian , Flanagan Sarah E.

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia which needs a prompt diagnosis and relevant treatment to avoid brain damage. So far, mutations in 11 key genes are known to cause monogenic forms of HI.Objective and hypotheses: The aim of this study was to characterize the clinical and molecular features of Turkish congenital HI patients and analyze the genotype/phenotype correlations.M...