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16th European Congress of Endocrinology

Oral Communications

Adrenal clinical

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 Cushing’s 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...

ea0035oc2.2 | Adrenal clinical | ECE2014

Constitutive activation of PRKACA in adrenal Cushing’s syndrome

Beuschlein Felix , Fassnacht Martin , Assie Guilaume , Calebiro Davide , Stratakis Constantine A. , Osswald Andrea , Ronchi Cristina L. , Wieland Thomas , Sbiera Silviu , Faucz Fabio R. , Schaak Katrin , Schmittfull Anett , Kisker Caroline , Diener Susanne , Meitinger Thomas , Lohse Martin J. , Reincke Martin , Bertherat Jerome , Strom Tim M. , Allolio Bruno

Background and Methods: Corticotropin-independent Cushing’s syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol producing adrenal adenomas is not well understood. Therefore, exome sequencing was performed in 10 cortisol-producing adenomas and recurrent mutations in candidate genes were evaluated in additional 171 patients with adrenocortical tumors. In addition, genome-wide copy number analysis was performed in 35 pati...

ea0035oc2.3 | Adrenal clinical | ECE2014

Prognostic value of DNA methylation in adrenocortical carcinomas: an ENSAT study

Assie Guillaume , Jouinot Anne , Libe Rossella , Barreau Olivia , Papathomas Thomas , Hamzaoui Nadim , Sbiera Silviu , Ronchi Christina , Kroiss Matthias , Waldmann Jens , Quinkler Marcus , Beuschlein Felix , Mannelli Massimo , Luconi Michaela , Mantero Franco , Groussin Lionel , Baudin Eric , de Krijger Ronald , Fassnacht Martin , Bertherat Jerome

Background: The prognosis of adrenocortical carcinomas (ACCs) is heterogeneous. Genome-wide methylation analysis of tumor DNA identified a sub-group of ACCs from the French COMETE network with CpG island hypermethylation evoking a CpG island methylator phenotype (CIMP). These ACCs are associated with a poorer prognosis (Barreau, JCEM 2013).The aim was to validate the prognostic value of CIMP in a large multicentric independent cohort from ENSAT (European...

ea0035oc2.4 | Adrenal clinical | ECE2014

Detection of pheochromocytoma by enzyme immunoassay measurements of plasma metanephrines requires appropriately established upper cut-offs of reference intervals

Weismann Dirk , Raida Anna , Deutschbein Timo , Prejbisz Aleksander , Januszewicz Andrzej , Willenberg Holger S. , Peitzsch Mirko , Darr Roland , Klemm Reiner , Manz Georg , Bidlingmaier Martin , Eisenhofer Graeme , Fassnacht Martin

Aim: To determine diagnostic performance of normetanephrine (NMN) and metanephrine (MN) measured by an enzyme immunoassay (EIA) compared with liquid chromatographic–tandem mass spectrometry (LC-MS/MS).Methods: Subjects included 341 patients (174 males) with a mean age of 52 year (range 13–86) tested for PHEO, which was confirmed in 54 patients. Samples where collected from fasting patients after 30 min of supine rest and analyzed for NMN, MN an...

ea0035oc2.5 | Adrenal clinical | ECE2014

Treatment strategy and outcome with primary aldosteronism: a nationwide longitudinal cohort based study

Wu VinCent , Wang Jian-Jhong , Wu Kwan-Dun , Chen Likwang

Objectives: Along with better recognition of the role of primary aldosteronism (PA) in increasing cardiovascular risk and the potential of targeted therapy for PA, the long-term mortality according to different treatments are poorly understood.Methods: We investigated PA patients using the validated algorithms between 1999 and 2011. Their data were extracted from the whole claims of the Taiwan National Health Insurance. We used Cox regression with time-v...