ea0035oc2.1 | Adrenal clinical | ECE2014
Libe Rossella
, Assie Guillaume
, Espiard Stephanie
, Luscap Windy
, Guignat Laurence
, Barrande Gaelle
, Brucker-Davis Francoise
, Doullay Francoise
, Lopez Stephanie
, Sonneta Emmanuel
, Torremocha Florence
, Pinsard Denis
, Chabert-Buffet Nathalie
, Sanson Marie Laure Raffin
, Groussin Lionel
, Borson-Chazot Francoise
, Bertagna Xavier
, Beuschlein Felix
, Ragazzon Bruno
, Bertherat Jerome
Introduction: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is often an incidental finding, but may be diagnosed in patients with Cushings syndrome. We have recently identified germline mutations in the armadillo repeat containing 5 gene (ARMC5) in AIMAH patients, associated with somatic second hits specific of each AIMAH nodule ( Assié et al, NEJM, 2013). The aim is to characterize the prevalence of ARMC5 mutations in AIMAH patients and the gen...