hrp0086p1-p557 | Perinatal Endocrinology P1 | ESPE2016

Mutations in MODY Genes: About Four Cases of Congenital Hyperinsulinism

Berthelon Karen , Rouleau Stephanie , Dupuis Clementine , Bouhours Natacha , Donzeau Aurelie , Cessans Christine , Bellanne Christine , Coutant Regis

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...