Abstract Search

ea0099p221 | Adrenal and Cardiovascular Endocrinology | ECE2024

Constitutional duplication of PRKACA gene is a cause of isolated primary pigmented nodular adrenocortical disease (PPNAD)

Vaduva Patricia , Violon Florian , Raverot Gerald , Stephanie Espiard , Attia Amina , Bouys Lucas , Perlemoine Karine , Albain Chansavang , Chevalier Nicolas , Marie Christine Vantyghem , Polak Michel , Ragazzon Bruno , Anne Jouinot Anne , Pasmant Eric , Bertherat Jerome

Objective: We have described constitutional duplications of the PRKACA gene locus (encoding the catalytic subunit of the Protein Kinase A) in rare cases of bilateral nodular adrenocortical cause of Cushings (Beuschlein et al, NEJM 2014). Its frequency in macronodular and micronodular adrenal diseases and the occurrence of others manifestation of Carney complex are not clearly established. This study performs its systematic screening in a large cohort of adrenoco...

0 shares

Endocrine Abstracts

Constitutional duplication of PRKACA gene is a cause of isolated primary pigmented nodular adrenocortical disease (PPNAD)

BiosciAbstracts