Searchable abstracts of presentations at key conferences in endocrinology

ea0020s18.2 | Should adrenal venous sampling should be performed before adrenalectomy in primary aldosteronism? | ECE2009

Should adrenal venous sampling be performed before adrenalectomy in primary aldosteronism? Con

Amar Laurence

There is no doubt that AVS plays a central role in differentiating PA subtypes and that adrenalectomy is only indicated in patients with unilateral aldosterone hypersecretion.However, AVS is not widely available. It is invasive and not devoid of morbidity (pain, adrenal hematoma). Cannulating the two adrenal veins is technically demanding and may fail in up to one patient in four. The procedure is not standardized (sequential or simultaneous bilateral AV...

ea0035p49 | Adrenal cortex | ECE2014

The influence of diagnostic criteria on the interpretation of adrenal venous sampling

Lethielleux Gaelle , Amar Laurence , Plouin Pierre-Francois , Steichen Olivier

Objective: Recent guidelines promote adrenal venous sampling (AVS) as the reference test to document lateralised aldosterone hypersecretion in primary aldosteronism (PA). However, there are wide discrepancies between institutions in the criteria used. Our objective was to evaluate their consequences on the interpretation of AVS results.Design and methods: All 506 AVS performed from 01/2001 to 03/2009 in our institution were included. Results were interpr...

ea0063p30 | Adrenal and Neuroendocrine Tumours 1 | ECE2019

Becoming of patients with primary aldosteronism according to their treatment

Belmihoub Ines , Cornu Erika , Nevoret Camille , Jannot Anne-Sophie , Azizi Michel , Amar Laurence

Introduction: Unilateral forms or primary aldosteronism (PA) can be treated by adrenalectomy of by mineralocorticoid receptor antagonists, whereas bilateral forms are always treated by mineralocorticoid receptor antagonists. Most studies find similar results for the control of blood pressure and kalemia, but also to reverse organ damages, however recent studies are discordant and show a benefit of adrenalectomy regarding cardiovascular events and blood pressure (BP). Regarding...

ea0090p547 | Adrenal and Cardiovascular Endocrinology | ECE2023

Safe observation of early recurrence of asymptomatic pheochromocytomas in MEN2 patients

Puerto Marie , Buffet Alexandre , Haissaguerre Magalie , Nunes Marie-Laure , Mathilde Duval , Haythem Najah , Amar Laurence , Tabarin Antoine

Controlateral recurrence of pheochromocytoma is frequent in MEN2 patients. Cortical sparing adrenalectomy is currently recommended in this situation, but conveys a risk of adrenal insufficiency in up to 45 % of patients. The natural history of recurrent pheochromocytome is poorly known. Thus, appropriate timing of surgery and the possibility to postpone safely surgery remain debatable. We report our experience of long-term follow up of non-operated 16 pheochromocytomas in 13 M...

ea0063gp199 | Adrenal and Neuroendocrine - Clinical | ECE2019

LC-MS/MS measurement for urinary aldosterone improves primary aldosteronism screening

Travers Simon , Blanchard Anne , Cornu Erica , Faucard Catherine , Baffalie Laurence , Azizi Michel , Houillier Pascal , Amar Laurence , BARON Stephanie

Objective: Primary aldosteronism (PA) is the first cause of endocrine hypertension accounting for about 6% of all cases of hypertension. According to international guidelines, PA screening is based on plasma aldosterone-to-renin concentration ratio (ARR) computation. Nevertheless, measurement of urine aldosterone excretion may be of interest since it integrates aldosterone secretion over 24 hours. However, available urine aldosterone immuno-assays have poor specificity.<p ...

ea0049gp15 | Adrenal 2 | ECE2017

Integrated genomic and phenomic analysis reveals key molecular pathways of aldosterone producing adenoma

Fernandes-Rosa Fabio , Boulkroun Sheerazed , Dzib Felipe Golib , Daniil Georgios , Amar Laurence , Rance Bastien , Samson-Couterie Benoit , Jeunemaitre Xavier , Meatchi Tchao , Benecke Arndt , Strom Tim , Zennaro Maria-Christina

Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D have been described in 50% of aldosterone producing adenomas (APA). To identify genetic alterations in new genes, we performed whole exome sequencing in 23 patients with APA negative for recurrent mutations in known driver genes. A low number of somatic variations were identified per patient, ranging from 1 to 22. N...

ea0063p465 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

Measurement of metanephrine in adrenal venous sampling may help subtyping primary aldosteronism

Baron Stephanie , Bailly Clement , Cornu Erica , Blanchard Anne , Bergerot Damien , Pagny Jean-Yves , Laffy Pierre-Yves , Carrere Thierry , Grataloup Christine , Zinzindohoue Franck , Reznik Yves , Azizi Michel , Billaud Eliane , Amar Laurence

Objective: Adrenal venous sampling (AVS) is the gold standard method to assess lateralization of aldosterone secretion in patients with primary aldosteronism (PA). The selectivity index (SIcortisol, the adrenal to peripheral vein ratio of cortisol concentrations) determines correct catheter positioning during AVS. The lateralization index (LIcortisol, the aldosterone to cortisol ratios between adrenal veins) distinguishes unilateral aldosterone producing ...

ea0049gp2 | Adrenal 1 | ECE2017

Contribution of retinoic acid receptor signalling to adrenal cortex morphology and functional zonation through modulation of WNT/β-catenin pathway

El Zein Rami , Rickard Amanda J , Felipe Golib Dzib Jose , Samson-Couterie Benoit , Rocha Angelique , Poglitsch Marko , Gomez-Sanchez Celso E , Amar Laurence , Fernandes-Rosa Fabio Luiz , Ghyselinck Norbert B , Benecke Arndt , Lalli Enzo , Zennaro Maria-Christina , Boulkroun Sheerazed

Recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1 and ATP2B3 have been identified in aldosterone producing adenoma (APA). Although the role of these mutations in regulating aldosterone biosynthesis has been clearly established, the mechanisms involved in proliferation and APA formation still remain to be elucidated. The aim of our study was to identify pathways involved in adrenal cortex nodulation and APA formation.Transcriptomic a...

ea0049oc7.2 | Cardiovascular endocrinology (1) | ECE2017

Targeted molecular markers derived from genomic classification for adrenocortical cancer prognostication

Jouinot Anne , Assie Guillaume , Fassnacht Martin , Libe Rossella , Dousset Bertrand , Ronchi Silviu Sbiera Cristina , Kroiss Matthias , Korpershoek Esther , De Krijger Ronald , Waldmann Jens , Quinkler Marcus , Tabarin Antoine , Chabre Olivier , Luconi Michaela , Mannelli Massimo , Groussin Lionel , Baudin Eric , Amar Laurence , Beuschlein Felix , Bertherat Jerome

Background: Adrenocortical cancer (ACC) is an aggressive tumour with heterogeneous prognosis. Recently integrated genomics reported distinct genomic alterations: transcriptome “C1A” (high expression of proliferation/cell cycle-related genes) vs “C1B”, “CIMP” (CpG islands hypermethylation) vs “non-CIMP”, chromosome alterations “Noisy” (numerous and anarchic alterations) vs “Chromosomal” (extended patterns of loss of he...

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<...