Searchable abstracts of presentations at key conferences in endocrinology

ea0029p29 | Adrenal cortex | ICEECE2012

The ACTH-independent macronodular adrenal hyperplasia gene hunt: from candidate genes to a pangenomic strategy

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...