hrp0082p3-d1-706 | Diabetes | ESPE2014

Congenital Hyperinsulinism Linked to INS-R Mutation: Case Report

Vitaliti Marcello , Maggio Maria Cristina , Vitaliti Giuliana , Grasso Valeria , Ciofalo Amalia , Rinaudo Grazia , Tranchina Elisa , Costantino Giuseppina , Corsello Giovanni , Barbetti Fabrizio

Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restri...