Searchable abstracts of presentations at key conferences in endocrinology

ea0037oc1.1 | Adrenal 1 | ECE2015

PRKACA defects and cortisol-producing lesions of the adrenal cortex: specific clinical phenotypes and histological features

Angelousi Anna , Salpea Paraskevi , Faucz Fabio , Zilbermint Michail , London Edra , Libe Rossella , Espiard Stephanie , Lyssikatos Charalampos , Kelestimur Fahrettin , Kebebew Electron , Delemer Brigitte , Hieronimus Sylvie , Feve Bruno , Raverot Gerald , Bertherat Jerome , Stratakis Constantine

Introduction: Germline inactivating mutations of the protein kinase A (PKA) regulatory subunit RI╬▒ (the PRKAR1A gene) cause primary pigmented nodular adrenocortical disease (PPNAD); other cyclic AMP (cAMP) signalling defects have been associated with bilateral adrenocortical hyperplasia (BAH), cortisol-producing adenoma (CPA) and related lesions. Recently, PRKACA somatic mutations were detected in single, sporadic CPAs in approximately 40% of patients wi...