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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

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)

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