Searchable abstracts of presentations at key conferences in endocrinology

Endocrine Abstracts

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ea0014s8.1 | Advances in adrenal hypersecretory disorders | ECE2007

Autocrine-paracrine pathways in primary adrenal disorders

Lefebvre Hervé , Contesse Vincent , Cartier Dorthe , Perraudin Véronique , Delarue Catherine , Vaudry Hubert , Bertherat Jérôme , Plouin Pierre-François , Kuhn Jean-Marc , Louiset Estelle

It is now well demonstrated that, in the human adrenal gland, aldosterone and cortisol productions are stimulated by autocrine/paracrine factors, like serotonin (5-HT) and arginine vasopressin (AVP). Several data indicate that these signals may also be involved in the regulation of corticosteroidogenesis in adrenocortical hyperplasias and tumors. 5-HT is detected in clusters of steroidogenic cells in aldosterone-producing adrenocortical adenomas (APAs), and in both ACTH-indepe...
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ea0056oc7.1 | Genomic and clinical aspects of endocrine tumours | ECE2018

Molecular classification of benign adrenocortical tumors: an integrated genomic study

Faillot Simon , Neou Mario , Espiard Stephanie , Vaczlavik Anna , Garinet Simon , Luscap-Rondof Windy , Jouinot Anne , Drougat Ludivine , Groussin Lionel , Perlemoine Karine , Rene-Corail Fernande , Ragazzon Bruno , Rizk-Rabin Marthe , Libe Rossella , Tissier Frederique , De Reynies Aurelien , Bertherat Jerome , Assie Guillaume

Benign adrenal tumors correspond to a spectrum of distinct tumors, including uni- and bilateral diseases with distinct morphological features, and various steroid hormone secretion types and levels. The aim is to study this variability at the molecular level using pan-genomic approaches.Methods: One hundred and forty six benign adrenal tumors, including adrenocortical adenomas (ACA, N=), primary macronodular adrenal hyperplasia (PMAH, N=), and primary pi...
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ea0093oc4 | Oral communication 1: Adrenal Diseases | EYES2023

Constitutional duplication of PRKACA gene is a cause of isolated primary pigmented nodular adrenocortical disease (PPNAD): Results of its systematic search in bilateral nodular adrenal disease

Vaduva Patricia , Violon Florian , Raverot Gerald , Espiard Stephanie , Attia Amina , Bouys Lucas , Perlemoine Karine , Chasavang Albin , Hieronimus Sylvie , Vantyghem Marie Christine , Polak Michel , Bruno Ragazzon , Jouinot Anne , Pasmant Eric , Bertherat Jerome

Background: Constitutional duplications of the PRKACA gene locus have been described as responsible for adrenal Cushing’s disease.The objective here was to evaluate the results of its systematic screening in bilateral adrenal nodular disease and to specify the associated phenotype.Methods: Between 2020 and 2023, 440 consecutive index cases with macronodular or micronodular adrenal hyperplasia or Carney Complex (CNC) w...
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ea0093oc24 | Oral communication 4: Pituitary and Neuroendocrinology | EYES2023

Transcriptome in paraffin samples for the diagnosis and prognosis of pituitary neuroendocrine tumors (PITNETS)

Benanteur Nesrine , Villa Chiara , Birtolo Maria Francesca , Jouinot Anne , De Murat Daniel , Letourneur Franck , Gaillard Stephan , Raffin-Sanson Marie-Laure , Emile Jean-Francois , Bertherat Jerome , Baussard Bertrand , Assie Guillaume

An initial multi-omics analysis of PitNETs has refined histological classifications, and could improve diagnostic and prognostic assessment (Neou, Cancer Cell 2020). Of all omics, transcriptome best discriminates between these different classes. This molecular classification has been built upon frozen samples, which are difficult to use in routine clinical practice.Aim: Demonstrate the feasibility of measuring the transcriptome in Formalin-Fixed Paraffin...
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ea0093p4 | Guided Poster Tour 1: Adrenal and Neuroendocrine tumors | EYES2023

Decrease in anticortisolic drug osilodrostat plasma exposure in patients treated with mitotane for an adrenocortical carcinoma

Thomeret Louis , Puszkiel Alicja , Balakirouchenane David , Bouys Lucas , Poirier Jonathan , Berthon Annabel , Ragazzon Bruno , Jouinot Anne , Guignat Laurence , Bessiene Laura , Libe Rossella , Bricaire Leopoldine , Groussin Lionel , Assie Guillaume , Blanchet Benoit , Bonnet-Serrano Fideline , Bertherat Jerome

Introduction: The steroidogenesis inhibitor osilodrostat (OSI), indicated for the medical treatment of endogenous Cushing’s syndrome, exhibits significant interindividual variability regarding the response to treatment (Pivonello et al. 2020). Plasma exposure may contribute to this variability. Our objective was to investigate the effect of concomitant use of mitotane (MIT), a potent inducer of CYP450 (3A4), on circulating OSI concentrations in patients treated f...
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ea0040lb11 | New insights on adrenocortical tumors OMICs | ESEBEC2016

L11 – Biography

Jérôme Bertherat is professor of Endocrinology at Paris Descartes University, Chief of the Endocrinology Department of Cochin Hospital, head of the National Center for Rare Adrenal Diseases and of the research team ‘Genomics and Signaling of Endocrine Tumors’ in the Cochin Institute (INSERM U1016 & CNRS UMR8104), Paris, France. He serves as the coordinator of the French National Network for Rar...
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ea0090p558 | Adrenal and Cardiovascular Endocrinology | ECE2023

Description of 38 novel ARMC5 variants and review of the literature: the updated mutational landscape of ARMC5 in Bilateral Macronodular Adrenocortical Disease

Bouys Lucas , Vaczlavik Anna , Pontes Cavalcante Isadora , Violon Florian , Jouinot Anne , Berthon Annabel , Vaduva Patricia , Espiard Stephanie , Perlemoine Karine , Kamenicky Peter , Vantyghem Marie-Christine , Tabarin Antoine , Raverot Gerald , Ronchi Cristina , Dischinger Ulrich , Reincke Martin , Candida Barisson Villares Fragoso Maria , Stratakis Constantine , North Marie-Odile , Pasmant Eric , Ragazzon Bruno , Bertherat Jerome

Introduction: Bilateral Macronodular Adrenocortical Disease (BMAD) is a rare cause of Cushing syndrome due to bilateral adrenocortical macronodules. Germline inactivating variants of the tumor suppressor gene ARMC5 have been described by our group 10 years ago and are responsible for 20-25% of apparently sporadic BMAD cases and 80% of familial presentations. ARMC5 patients present with a more pronounced phenotype than wild-type patients, in terms of cortisol ...
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ea0090p660 | Endocrine-related Cancer | ECE2023

Increased frequency of breast cancer in young Carney Complex patients suggests a role for inactivation of the tumor suppressor gene PRKAR1A

Vaduva Patricia , Violon Florian , Anne Jouinot Anne , Bouys Lucas , Espiard Stephanie , Bonnet Fideline , North Marie-Odile , Catherine Cardot , Raverot Gerald , Sylvie Hieronimus , Lefebvre Herve , Nunes Marie-Laure , Tabarin Antoine , Groussin Lionel , Assie Guillaume , Sibony Mathilde , Christine Vantyghem Marie , Pasmant Eric , Bertherat Jerome

Objective: Carney Complex (CNC) is a rare hereditary genetic syndrome, mostly due to inactivating pathogenic variants of the tumor suppressor gene PRKAR1A. It has a wide spectrum of manifestations with frequent pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, acromegaly and thyroid cancers. Breast benign tumors (fibroadenomas, ductal adenomas and myxoid lesions) have been associated with CNC, but so far, association with mal...
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ea0065op6.4 | Neuroendocrinology, Pituitary and Neoplasia | SFEBES2019

Urine steroid metabolomics as a novel diagnostic tool for recurrent adrenocortical carcinoma detection

Chortis Vasileios , Nijman Thomas , Bancos Irina , Gilligan Lorna C , Taylor Angela E , Ronchi Cristina L , O'Reilly Michael W , Schreiner Jochen , Asia Miriam , Riester Anna , Terzolo Massimo , Libe Rosella , Quinkler Marcus , Canu Letizia , Paiva Isabel , Bugalho Maria J , Kastelan Darko , Dennedy M Conall , Sherlock Mark , Ambroziak Urszula , Vassiliadi Dimitra , Bertherat Jerome , Beuschlein Felix , Fassnacht Martin , Deeks Jonathan J , Biehl Michael , Arlt Wiebke

Objective: Urine steroid metabolomics, combining mass spectrometry-based steroid profiling and machine learning, has been described as a novel diagnostic tool for detection of adrenocortical carcinoma (ACC). This proof-of-concept study evaluated the performance of urine steroid metabolomics as a tool for post-operative recurrence detection after microscopically complete (R0) resection of ACC.Methods: 135 ACC patients from 14 clinical centres provided pos...
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ea0067o21 | Oral Presentations | EYES2019

Urine steroid metabolomics as a novel diagnostic tool for recurrent adrenocortical carcinoma detection

Chortis Vasileios , Bancos Irina , Nijman Thomas , Gilligan Lorna C , Taylor Angela E , Ronchi Cristina L , O'Reilly Michael W , Schreiner Jochen , Asia Miriam , Riester Anna , Terzolo Massimo , Libe Rosella , Quinkler Marcus , Canu Letizia , Paiva Isabel , Bugalho Maria J , Kastelan Darko , Dennedy M Conall , Sherlock Mark , Ambroziak Urszula , Vassiliadi Dimitra , Bertherat Jerome , Beuschlein Felix , Fassnacht Martin , Deeks Jonathan J , Biehl Michael , Arlt Wiebke

Objective: Urine steroid metabolomics, combining mass spectrometry-based steroid profiling and machine learning, has been described as a novel diagnostic tool for detection of adrenocortical carcinoma (ACC). This proof-of-concept study evaluated the performance of urine steroid metabolomics as a tool for post-operative recurrence detection after microscopically complete (R0) resection of ACC.Methods: 135 patients from 14 clinical centers provided post-op...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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