Searchable abstracts of presentations at key conferences in endocrinology

ea0081p13 | Adrenal and Cardiovascular Endocrinology | ECE2022

ARMC5 as a possible regulator of acetylation in the adrenal cortex in partnership with SIRT1

Berthon Annabel , Faucz Fabio , Feldman Benjamin , Drougat Ludivine , espiard Stephanie , Pontes Cavalcante Isadora , Ragazzon Bruno , Bertherat Jerome , Stratakis Constantine

ARMC5 is a tumor suppressor gene responsible for 20 to 40% of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) with a function that remains unclear. Based on pathway analysis from RNAseq results obtained on zebrafish models of transient Armc5 up- and down-regulation, we identified transcriptional alterations of several members of SIRT1 (sirtuin (silent mating type information regulation 2 homolog) 1) signaling in our models and hypothesized that ARM...

ea0090p558 | Adrenal and Cardiovascular Endocrinology | ECE2023

Description of 38 novel ARMC5 variants and review of the literature: the updated mutational landscape of ARMC5 in Bilateral Macronodular Adrenocortical Disease

Bouys Lucas , Vaczlavik Anna , Pontes Cavalcante Isadora , Violon Florian , Jouinot Anne , Berthon Annabel , Vaduva Patricia , Espiard Stephanie , Perlemoine Karine , Kamenicky Peter , Vantyghem Marie-Christine , Tabarin Antoine , Raverot Gerald , Ronchi Cristina , Dischinger Ulrich , Reincke Martin , Candida Barisson Villares Fragoso Maria , Stratakis Constantine , North Marie-Odile , Pasmant Eric , Ragazzon Bruno , Bertherat Jerome

Introduction: Bilateral Macronodular Adrenocortical Disease (BMAD) is a rare cause of Cushing syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 have been described by our group 10 years ago and are responsible for 20-25% of apparently sporadic BMAD cases and 80% of familial presentations. ARMC5 patients present with a more pronounced phenotype than wild-type patients, in terms of cortisol ...