hrp0086p1-p39 | Adrenal P1 | ESPE2016

Chronic Adrenal Insufficiency Due to a Mutation of Nicotinamide Nucleotide Transhydrogenase 1 (NNT1): Case Report

Lefevre Christine , Derquenne Helene , Ister Marielle , Weill Jacques , Gueorguieva Iva , Stuckens Chantal , Cartigny Maryse

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...