hrp0084p3-1063 | Hypo | ESPE2015

Genotype–Phenotype Associations in 90 Children with Congenital Hyperinsulinism

Melikyan Maria , Christesen Henrik , Petryakina Elena , Tulpakov Anatoly , Tihonovich Julia , Stepanov Alexey , Kareva Maria , Flanagan Sarah , Ellard Sian , Brusgaard Klaus , Peterkova Valentina , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia in neonates, infants and children. CHI is a heterogeneous disease in terms of clinical presentation, genetics and histology.Objective and hypotheses: The aim of this study was to describe the clinical characteristics, genotype–phenotype correlations and treatment outcome of Russian patients with CHI.Method: A total of 90 children with CHI were iden...