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 RIα (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...

ea0093oc4 | Oral communication 1: Adrenal Diseases | EYES2023

Constitutional duplication of PRKACA gene is a cause of isolated primary pigmented nodular adrenocortical disease (PPNAD): Results of its systematic search in bilateral nodular adrenal disease

Vaduva Patricia , Violon Florian , Raverot Gerald , Espiard Stephanie , Attia Amina , Bouys Lucas , Perlemoine Karine , Chasavang Albin , Hieronimus Sylvie , Vantyghem Marie Christine , Polak Michel , Bruno Ragazzon , Jouinot Anne , Pasmant Eric , Bertherat Jerome

Background: Constitutional duplications of the PRKACA gene locus have been described as responsible for adrenal Cushing’s disease.The objective here was to evaluate the results of its systematic screening in bilateral adrenal nodular disease and to specify the associated phenotype.Methods: Between 2020 and 2023, 440 consecutive index cases with macronodular or micronodular adrenal hyperplasia or Carney Complex (CNC) w...

ea0090p660 | Endocrine-related Cancer | ECE2023

Increased frequency of breast cancer in young Carney Complex patients suggests a role for inactivation of the tumor suppressor gene PRKAR1A

Vaduva Patricia , Violon Florian , Anne Jouinot Anne , Bouys Lucas , Espiard Stephanie , Bonnet Fideline , North Marie-Odile , Catherine Cardot , Raverot Gerald , Sylvie Hieronimus , Lefebvre Herve , Nunes Marie-Laure , Tabarin Antoine , Groussin Lionel , Assie Guillaume , Sibony Mathilde , Christine Vantyghem Marie , Pasmant Eric , Bertherat Jerome

Objective: Carney Complex (CNC) is a rare hereditary genetic syndrome, mostly due to inactivating pathogenic variants of the tumor suppressor gene PRKAR1A. It has a wide spectrum of manifestations with frequent pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, acromegaly and thyroid cancers. Breast benign tumors (fibroadenomas, ductal adenomas and myxoid lesions) have been associated with CNC, but so far, association with mal...

ea0070oc7.1 | Endocrine-related Cancer | ECE2020

Is Carney complex a breast cancer predisposing syndrome? prospective study of 50 women

Vaduva Patricia , Espiard Stéphanie , Jouinot Anne , Vantyghem Marie-Christine , Assié Guillaume , Catherine Cardot-Bauters , Raverot Gerald , Sylvie Hieronimus , Francoise Archambeaud , Hervé Lefebvre , Laure Nunes , Tabarin Antoine , Anne Lienhardt , Groussin Lionel , Guignat Laurence , Fideline Bonnet , North Marie-Odile , Bertherat Jerome

Introduction: Carney Complex (CNC) is a rare genetic syndrome, with multiple endocrine and non-endocrine neoplasia, mostly due to inactivating mutations of the PRKAR1A gene. CNC has a wide spectrum of manifestations : most frequently skin lesions, cardiac myxomas and primary pigmented nodular adrenocortical dysplasia (PPNAD), but also thyroid nodules, schwannomas, breast tumors (mainly myxoid fibroadenomas and ductal adenomas)… The present study was designed to ...