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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 ...

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ea0073oc1.3 | Oral Communications 1: Adrenal and Cardiovascular Endocrinology | ECE2021

PDE11A4 (Phosphodiesterase 11 A4) is a modulator of the primary bilateral macronodular adrenal hyperplasia (PBMAH) phenotype: genotype/phenotype analysis of a cohort of 354 patients analysed by next-generation sequencing (NGS)

Vaduva Patricia , Anna Vaczlavik , Lucas Bouys , Neou Mario , Septier Amandine , Heurtier Victor , Cavalcante Isadora Pontes , RossellaLibe , Fabio Faucz , Gaetan Giannone , Kroiss Matthias , Borson-Chazot Francoise , Chanson Philippe , Tabarin Antoine , Marie-Christine Marie-Christine , Assié Guillaume , Candida Barisson Villares Fragoso Maria , Constantine Stratakis , Ragazzon Bruno , Bertherat Jerome

IntroductionPrimary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of adrenal Cushings syndrome due to bilateral adrenal tumors, is an heterogenous disease with various clinical, hormonal and morphological characteristics. ARMC5 inactivating mutations is the most frequent genetic cause of PBMAH and variants of PDE11A4 have been associated with the disease. In order to better understand the heterogeneity ...

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Endocrine Abstracts

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

PDE11A4 (Phosphodiesterase 11 A4) is a modulator of the primary bilateral macronodular adrenal hyperplasia (PBMAH) phenotype: genotype/phenotype analysis of a cohort of 354 patients analysed by next-generation sequencing (NGS)

BiosciAbstracts