ea0029p29 | Adrenal cortex | ICEECE2012
Assie G.
, Libe R.
, Guimier A.
, Espiard S.
, Rene-Corail F.
, Perlemoine K.
, Letourneur F.
, Bertagna X.
, Groussin L.
, Bertherat J.
ACTH-independent macronodular hyperplasia (AIMAH) affects both adrenals, and familial forms are reported, suggesting a genetic origin. Rare mutations have been reported in several genes, including Gs alpha (GNAS), Phosphodiesterase 11A (PDE11A), Fumarate Hydratase (FH), and the Glucocorticoids receptor (GR).Objective: To assess the prevalence known genes mutations, and identify new candidate genes in AIMAH.Design and methods: Germl...