Searchable abstracts of presentations at key conferences in endocrinology

ea0035oc2.2 | Adrenal clinical | ECE2014

Constitutive activation of PRKACA in adrenal Cushing’s syndrome

Beuschlein Felix , Fassnacht Martin , Assie Guilaume , Calebiro Davide , Stratakis Constantine A. , Osswald Andrea , Ronchi Cristina L. , Wieland Thomas , Sbiera Silviu , Faucz Fabio R. , Schaak Katrin , Schmittfull Anett , Kisker Caroline , Diener Susanne , Meitinger Thomas , Lohse Martin J. , Reincke Martin , Bertherat Jerome , Strom Tim M. , Allolio Bruno

Background and Methods: Corticotropin-independent CushingÂ’s syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol producing adrenal adenomas is not well understood. Therefore, exome sequencing was performed in 10 cortisol-producing adenomas and recurrent mutations in candidate genes were evaluated in additional 171 patients with adrenocortical tumors. In addition, genome-wide copy number analysis was performed in 35 pati...