hrp0092rfc9.4 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Correlation Between Genotype and Phenotype Characteristics in Children with Congenital Hyperinsulinism (CHI) in a Specialist Centre

Bosch Laura , Kallefullah Mohammad Jasmina , Dastamani Antonia , Gilbert Clare , Morgan Kate , Houghton Jayne , Ellard Sian , Flanagan Sarah , Shah Pratik

Introduction and Aim: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in early infancy and represents a heterogeneous disorder with respect to clinical presentation, histology and genetics. The aim of our study is to review correlation between genotype and phenotypic characteristics of children with CHI.Methods: Retrospective review of CHI patients with positive genetics during the last 8 years...