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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

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

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