hrp0086p1-p554 | Perinatal Endocrinology P1 | ESPE2016
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...