hrp0086p1-p39 | Adrenal P1 | ESPE2016
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...