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ea0022h1.3 | Oral Communications Highlights 1 | ECE2010

ESE Young Investigator Award

Libe Rossella , Horvath Anelia , Fratticci Amato , Vezzosi Delphine , Coste Joel , Guillaud-Bataille Marine , Groussin Lionel , Clauser Eric , Sanson Marie Laure Raffin , Bertagna Xavier , Stratakis Constantine , Bertherat Jerome

Background: Cushing syndrome due to PPNAD is the main endocrine disorder of CNC, an autosomal dominant multiple neoplasia caused by germline inactivating mutations of the subunit type 1A (PRKAR1A) of the protein kinase A (PKA). In addition, germline inactivating mutations in the gene encoding phosphodiesterase 11A (PDE11A) have been identified in patients with PPNAD.Aim of the study: To investigate the role of PDE11A genetic alterati...

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ea0035oc2.1 | Adrenal clinical | ECE2014

Armadillo repeat containing 5 gene (ARMC5) alterations in a large cohort of 98 ACTH-independant macronodular adrenal hyperplasia (AIMAH) patients: genotype/phenotype correlations.

Libe Rossella , Assie Guillaume , Espiard Stephanie , Luscap Windy , Guignat Laurence , Barrande Gaelle , Brucker-Davis Francoise , Doullay Francoise , Lopez Stephanie , Sonneta Emmanuel , Torremocha Florence , Pinsard Denis , Chabert-Buffet Nathalie , Sanson Marie Laure Raffin , Groussin Lionel , Borson-Chazot Francoise , Bertagna Xavier , Beuschlein Felix , Ragazzon Bruno , Bertherat Jerome

Introduction: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is often an incidental finding, but may be diagnosed in patients with Cushings syndrome. We have recently identified germline mutations in the armadillo repeat containing 5 gene (ARMC5) in AIMAH patients, associated with somatic second hits specific of each AIMAH nodule ( Assié et al, NEJM, 2013). The aim is to characterize the prevalence of ARMC5 mutations in AIMAH patients and the gen...

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Endocrine Abstracts

ESE Young Investigator Award

Armadillo repeat containing 5 gene (ARMC5) alterations in a large cohort of 98 ACTH-independant macronodular adrenal hyperplasia (AIMAH) patients: genotype/phenotype correlations.

BiosciAbstracts