Searchable abstracts of presentations at key conferences in endocrinology

ea0090p369 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Impact of exenatide on weight loss and eating behavior in adults with craniopharyngioma-related obesity: the Cranioexe randomized placebo-controlled trial

Gatta-Cherifi Blandine , Mohammedi Kamel , Cariou Tanguy , Poitou-Bernert Christine , Touraine Philippe , Raverot Gerald , Brue Thierry , Chanson Philippe , Illouz Frederic , Solange Grunenwald , Chabre Olivier , Sonnet Emmanuel , Cuny Thomas , Bertherat Jerome , Czernichow Sebastien , Frison Eric , Tabarin Antoine

Background: Hyperphagia leading to craniopharyngioma-related obesity (CRO) is a common and serious sequel of treatments of craniopharyngiomas. The few therapeutic approaches that have been tested until now for the control of eating behaviour and weight have poor efficacy. Glucagon-like peptide-1 (GLP-1) analogues might be an option. Methods: This multicentre, randomised, double-blind superiority trial was conducted in France. Adults with CRO (BMI > 3...

ea0063oc10.3 | Adrenal 2 | ECE2019

Genetic predisposition to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH): next generation sequencing ARMC5, NR3C1 (glucocorticoid receptor) and PDE11A4 (phosphodiesterase 11) in 389 patients

Vaczlavik Anna , Vaduva Patricia , Bouys Lucas , Neou Mario , Septier Amandine , Heurtier Victor , Libe Rossella , Kroiss Matthias , Borson-Chazot Francoise , Chanson Philippe , Vanthyghem Marie-Christine , Tabarin Antoine , Assie Guillaume , Stratakis Constantine , Fragoso Maria , Ragazzon Bruno , Bertherat Jerome

Introduction: PBMAH is an heterogeneous disease from the clinical, hormonal, and morphological point of view. ARMC5 inactivating mutations have been reported as a cause of PBMAH. PDE11A4 variants have been associated with PBMAH and NR3C1 variants with bilateral adrenal incidentalomas.Aim: To analyse the frequency of ARMC5 pathogenic mutations and PDE11A4 and NR3C1 variants in PBMAH patients.<p cla...

ea0063p288 | Pituitary and Neuroendocrinology 1 | ECE2019

Efficacy and safety of dopamine agonists in psychiatric patients treated with antipsychotics and presenting a macroprolactinoma

Allard Lucie , Albarel Frederique , Bertherat Jerome , Caron Philippe , Christine Cortet-Rudelli , Carine Courtillot , Delemer Brigitte , Jublanc Christel , Maiter Dominique , Nunes Marie-Laure , Raverot Gerald , Salenave Sylvie , Sarfati Julie , Chanson Philippe

Dopamine agonists (DAs), used as first line therapy in patients with macroprolactinomas, and antipsychotics have opposite effects on dopamine receptors (D2R). In patients with severe psychiatric conditions treated with antipsychotics, the rare occurrence of a macroprolactinoma, particularly with optic chiasm compression, represents a therapeutic challenge. Indeed, on one hand, antipsychotics by their antagonistic effect on D2R, could decrease or even abolish the effects of DAs...

ea0049gp5 | Adrenal 1 | ECE2017

Protein Kinase A signaling saves regulatory subunit IIβ from PRKACA mutation-mediated degradation

Weigand Isabel , Bathon Kerstin , Ronchi Cristina , Rizk-Rabin Marthe , Di Dalmazi Guido , Wild Vanessa , Rubin Beatrice , Vanselow Jens T , Schlosser Andreas , Calebiro Davide , Beuschlein Felix , Bertherat Jerome , Fassnacht Martin , Sbiera Silviu

Protein Kinase A (PKA) consists of two catalytic and two regulatory subunits with several isoforms (Cα,β,γ, RIα,IIα,Iβ,IIβ). In 30–40% of cortisol-producing adrenocortical adenomas (CPA) heterozygous activating somatic mutations in the catalytic subunit α (Cα) of PKA have been found. Previous reports found strikingly reduced levels of RIIβ in CPA compared to other adrenocortical tumors. Here, we investigated the correlatio...

ea0049gp120 | Endocrine Tumours | ECE2017

Evaluation of the occurrence of the manifestations of Carney complex in a french cohort of 70 patients during a three years standardized follow-up

Espiard Stephanie , Cardot-Bauters Catherine , Raverot Gerald , Nunes Marie-Laure , Brucker-Davis Francoise , Houang Muriel , Archambeaud-Mouveroux Francoise , Lienhardt Anne , Lefebvre Herve , Chabre Olivier , Tabarin Antoine , Vantyghem Marie-Christine , Bertherat Jerome

Introduction: The Carney Complex is a multiple endocrine and non endocrine neoplasia mostly due to PRKAR1A mutations. Spectrum of manifestations and genotype-phenotype correlations have been previously described by retrospective studies. A prospective study evaluating the occurrence of the different manifestations was needed to precise the optimum follow-up.Methods: Multi-center national prospective study (Clinical Trials NCT00668291) including 70 patien...

ea0038oc3.4 | Steroids and adrenal | SFEBES2015

Urine steroid metabolomics as a novel diagnostic tool for early detection of recurrence in adrenocortical carcinoma

Chortis Vasileios , Bancos Irina , Lang Katharina , Hughes Beverly , O'Neil Donna , Taylor Angela , Fassnacht Martin , Bertherat Jerome , Beuschlein Felix , Quinkler Marcus , Vassiliadi Dimitra , Dennedy M Conall , Mannelli Massimo , Biehl Michael , Arlt Wiebke

Introduction: Adrenocortical carcinoma (ACC) is an aggressive malignancy with a high rate of recurrence. Regular post-operative follow-up imaging is necessary, but associated with high radiation exposure and frequent diagnostic ambiguity. Urine steroid metabolomics has recently been introduced as a novel diagnostic tool for the detection of adrenocortical malignancy in patients with adrenal incidentalomas. Here we present the first clinical study assessing the performance of t...

ea0037oc1.1 | Adrenal 1 | ECE2015

PRKACA defects and cortisol-producing lesions of the adrenal cortex: specific clinical phenotypes and histological features

Angelousi Anna , Salpea Paraskevi , Faucz Fabio , Zilbermint Michail , London Edra , Libe Rossella , Espiard Stephanie , Lyssikatos Charalampos , Kelestimur Fahrettin , Kebebew Electron , Delemer Brigitte , Hieronimus Sylvie , Feve Bruno , Raverot Gerald , Bertherat Jerome , Stratakis Constantine

Introduction: Germline inactivating mutations of the protein kinase A (PKA) regulatory subunit RIα (the PRKAR1A gene) cause primary pigmented nodular adrenocortical disease (PPNAD); other cyclic AMP (cAMP) signalling defects have been associated with bilateral adrenocortical hyperplasia (BAH), cortisol-producing adenoma (CPA) and related lesions. Recently, PRKACA somatic mutations were detected in single, sporadic CPAs in approximately 40% of patients wi...

ea0070oc4.3 | Pituitary and Neuroendocrinology | ECE2020

Clinical implications of Pan-genomic classification of pituitary neuroendocrine tumours

Villa Chiara , Neou Mario , Armignacco Roberta , Anne Jouinot Anne , Raffin-Sanson Marie-Laure , Septier Amandine , Perlemoine Karine , Bernier Michèle , Baussart Bertrand , Bertherat Jerome , Gaillard Stéphan , Assié Guillaume

Recently, we provided the first integrated genomic classification of pituitary neuroendocrine tumors (PitNETs), on a series of 134 tumors. This series covered all histological, secretion, invasion and growth speed types. This molecular classification supports the importance of pituitary lineage as proposed by the World Health Organization 2017 classification, but also individualizes new entities. Indeed, corticotroph tumors are split into three distinct molecular groups. In ad...

ea0070yi12 | Young Investigators | ECE2020

Identification of transcriptome profiles in paraffin samples using 3’ RNA-sequencing for the prognostic assessment of adrenocortical carcinoma

Jouinot Anne , Sibony Mathilde , Jeanpierre Lindsay , Septier Amandine , De Murat Daniel , Armignacco Roberta , Perlemoine Karine , Izac Brigitte , Letourneur Franck , Ragazzon Bruno , Leroy Karen , Gaujoux Sebastien , Dousset Bertrand , Groussin Lionel , Libe Rossella , Bertherat Jerome , Assié Guillaume

Background: Adrenocortical cancer (ACC) is an aggressive tumor with heterogeneous prognosis. Previous genomic studies have demonstrated the importance of molecular classification for the prognostic assessment. Among molecular markers, transcriptome profiles “C1A” (steroid and proliferative signature) and “C1B” (immune signature) show the strongest association with outcome. However these markers are determined so far only from frozen tissue samples, sinc...