Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0056oc7.4 | Genomic and clinical aspects of endocrine tumours | ECE2018

Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier (SLC25A11) gene confer predisposition to metastatic paragangliomas

Buffet Alexandre , Morin Aurelie , Castro-Vega Luis-Jaime , Habarou Florence , Lussey-Lepoutre Charlotte , Letouze Eric , Lefebvre Herve , Guilhem Isabelle , Haissaguerre Magalie , Raingeard Isabelle , Padilla-Girola Mathilde , Tran Thi , Tchara Lucien , Bertherat Jerome , Amar Laurence , Ottolenghi Chris , Burnichon Nelly , Gimenez-Roqueplo Anne-Paule , Favier Judith

Integrative genomics studies of paragangliomas (PGL) have shown that PGL susceptibility genes are the main drivers of tumorigenesis. Comprehensive genetic analyses have identified germline SDHB and, to a lesser extent, FH gene mutations, as predominant causes of metastatic PGL. However, some suspicious cases remain unexplained. We performed whole-exome sequencing of a paraganglioma exhibiting an SDHx-like molecular profile in the absence of SDHx<...

ea0081yi6 | Young Investigator Awards | ECE2022

Integrated genomics reveals the molecular classification of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), correlating with specific profiles of illegitimate receptors expression and identifies KDM1A as the genetic cause of food-dependent Cushing syndrome

Bouys Lucas , Violon Florian , Vaczlavik Anna , Gaetan Giannone , Jouinot Anne , Armignacco Roberta , Cavalcante Isadora Pontes , Berthon Annabel , Letouze Eric , Vaduva Patricia , Barat Maxime , Fideline Bonnet , Perlemoine Karine , Ribes Christopher , Sibony Mathilde , North Marie-Odile , Espiard Stephanie , Haissaguerre Magalie , TAUVERON Igor , Guignat Laurence , Groussin Lionel , Dousset Bertrand , Reincke Martin , Barisson Villares Fragoso Maria Candida , Stratakis Constantine A , Pasmant Eric , Libe Rossella , Assie Guillaume , Ragazzon Bruno , Bertherat Jerome

Introduction: In Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), cortisol secretion may be consecutive to physiological stimuli, through the illegitimate expression of G-protein coupled receptors (GPCR) in adrenocortical cells. The most characterized is the overexpression of GIP receptor (GIPR) leading to food-dependent Cushing syndrome (FDCS) but it has not been associated with the consecutive inactivation of ARMC5 responsible for 25% of PBMAH. This work aimed to ...