hrp0086rfc10.5 | Perinatal Endocrinology | ESPE2016

Phenotype, Genotype and Short term Outcome in Congenital Hyperinsulinism (CHI)

Dhingra Mudita , Rao Sudha , Dighe Neha , Parikh Ruchi , Joshi Madhura , Kondpalle Sandhya , Limaye Aparna , Joshi Rajesh , Desai Meena P

Background: Congenital Hyperinsulinism (CHI) is the commonest cause of refractory hypoglycaemia in infants.Objective and hypotheses: CHI is a rare disorder with varied clinical manifestations, genotype often with poor outcome. This study describes the clinical profile, molecular characterisation, response to therapy and short term outcome in children with CHI presenting to Paediatric Endocrinology Division, B.J. Wadia Hospital for Children, Mumbai.<p...