Searchable abstracts of presentations at key conferences in endocrinology

ea0063oc10.3 | Adrenal 2 | ECE2019

Genetic predisposition to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH): next generation sequencing ARMC5, NR3C1 (glucocorticoid receptor) and PDE11A4 (phosphodiesterase 11) in 389 patients

Vaczlavik Anna , Vaduva Patricia , Bouys Lucas , Neou Mario , Septier Amandine , Heurtier Victor , Libe Rossella , Kroiss Matthias , Borson-Chazot Francoise , Chanson Philippe , Vanthyghem Marie-Christine , Tabarin Antoine , Assie Guillaume , Stratakis Constantine , Fragoso Maria , Ragazzon Bruno , Bertherat Jerome

Introduction: PBMAH is an heterogeneous disease from the clinical, hormonal, and morphological point of view. ARMC5 inactivating mutations have been reported as a cause of PBMAH. PDE11A4 variants have been associated with PBMAH and NR3C1 variants with bilateral adrenal incidentalomas.Aim: To analyse the frequency of ARMC5 pathogenic mutations and PDE11A4 and NR3C1 variants in PBMAH patients.<p cla...

ea0070aep6 | Adrenal and Cardiovascular Endocrinology | ECE2020

Integrated genomics reveals different subgroups of primary bilateral macronodular adrenal hyperplasia (PBMAH)

Vaczlavik Anna , Bouys Lucas , Letouze Eric , Perlemoine Karine , Guignat Laurence , Letourneur Franck , Sibony Mathilde , Bonnet Fidéline , Heurtier Victor , Espiard Stéphanie , Assié Guillaume , Ragazzon Bruno , Bertherat Jerome

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) are benign adrenocortical disease responsible for benign tumors and cortisol autonomous secretion. There is a broad spectrum of clinical, imaging and hormonal presentations. Aberrant membrane receptor expression is frequent, the most characteristic example being the food dependent Cushing syndrome due to ectopic expression of the GIP receptor (GIP-R). In 20 to 25 % of these patients, inactivating heterozy...

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 CushingÂ’s 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 ...