Searchable abstracts of presentations at key conferences in endocrinology

ea0063oc5.1 | Adrenal 1 | ECE2019

Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma

Buffet Alexandre , Aim Laurene Ben , Leboulleux Sophie , Drui Delphine , Vezzosi Delphine , Libe Rossella , Ajzenberg Christiane , Bernardeschi Daniele , Cariou Bertrand , Chabolle Frederic , Chabre Olivier , Darrouzet Vincent , Delemer Brigitte , Desailloud Rachel , Goichot Bernard , Esvant Annabelle , Offredo Lucile , Herman Philippe , Laboureau Sandrine , Lefebvre Herve , Pierre Peggy , Raingeard Isabelle , Reznik Yves , Sadoul Jean-Louis , Hadoux Julien , Tabarin Antoine , Tauveron Igor , Zenaty Delphine , Favier Judith , Bertherat Jerome , Baudin Eric , Amar Laurence , Gimenez-Roqueplo Anne-Paule

Context: Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a strong genetic component. Indeed, up to 40% of patients carry a germline mutation in a PPGL susceptibility gene. In accordance with the international recommendations, genotyping of PPGL susceptibility genes is therefore proposed to all patients with PPGL, but it has actually never been shown whether the identification of a germline mutation in one PPGL susceptibility gene ch...

ea0063gp212 | Gestational and Type 1 Diabetes | ECE2019

Prevalence of gestational diabetes during 14 pregnancies of acromegalic women

Vialon Magaly , Grunenwald Solange , Mouly Celine , Vezzosi Delphine , Bennet Antoine , Caron Philippe

Introduction: Abnormalities of glycoregulation are frequent in acromegaly (15-38%) secondary to insulin resistance related to GH/IGF-1 hyper-secretion. The frequency of gestational diabetes (GD) in women with acromegaly was reported in the French multicenter study (JCEM, 2010, 95, 4680) as increased mainly in the absence of pre-gestational control of GH/IGF-1 hyper-secretion. The aim of this study was to evaluate the frequency of GD in a cohort of acromegalic women, and compar...

ea0037ep1204 | Clinical Cases–Pituitary/Adrenal | ECE2015

Familial SDHC mutation associated with prolactin/gh-secreting pituitary adenoma and paraganglioma

Barigou Mohammed , Buffet Alexandre , Bennet Antoine , Pigny Pascal , Bellec Laurent , Caron Philippe , Vezzosi Delphine

Introduction: SDH genes mutations are associated with hereditary phaeochromocytoma and paraganglioma syndromes. We describe the case of a patient with SDHC related familial paraganglioma and pituitary adenoma.Case: A 65-year old man consulted for an incidentally discovered 7 cm abdominal mass on CT-scan, lateral to the right kidney, invading inferior vena cava, associated to a retroperitoneal adenomegaly and a lesion on the body of L2 vertebra with spina...

ea0063p826 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

The French COMETE-Cancer network for adrenal cancer: 10 years of activity as part of a national plan for clinical care of rare cancers

Libe Rossella , Tabarin Antoine , Chabre Olivier , Laboureau Sandrine , Goichot Bernard , Vezzosi Delphine , Lefebvre Herve , Verges Bruno , Niccoli Patricia , Vanthyghem Marie-Christine , Baudin Eric , Bertherat Jerome

Introduction: The French National Institute of Cancer (INCa) launched supported by the Ministry of Health in 2008 a program for the recognition of national networks for the management of rare cancers. Among the 23 selected networks COMETE-Cancer was recognized by INCa in 2009 for Adrenocortical carcinoma (ACC) and malignant pheochromocytoma/paraganglioma (MPP). At that time 60–120 new ACC/year and 30 new MPP/year were expected at the national level....

ea0032p5 | Adrenal cortex | ECE2013

The gene expression profile of cortisol secretion in adrenocortical adenomas

Roussel Hortense Wilmot , Vezzosi Delphine , Rizk-Rabin Marthe , Barreau Olivia , Ragazzon Bruno , Rene-Corail Fernande , de Reynies Aurelien , Bertherat Jerome , Assie Guillaume

The cortisol secretion level of adrenocortical adenomas range from hormonally silent to overt hypercortisolism. The mechanisms leading to the autonomous hypersecretion of cortisol are unknown. The aim was to identify the gene expression alterations associated with the autonomous and excessive cortisol secretion of adrenocortical adenomas.Methods: The transcriptome of 22 unilateral adrenocortical adenomas (5 non-secreting, 6 subclinical cortisol-producing...

ea0022h1.3 | Oral Communications Highlights 1 | ECE2010

ESE Young Investigator Award

Libe Rossella , Horvath Anelia , Fratticci Amato , Vezzosi Delphine , Coste Joel , Guillaud-Bataille Marine , Groussin Lionel , Clauser Eric , Sanson Marie Laure Raffin , Bertagna Xavier , Stratakis Constantine , Bertherat Jerome

Background: Cushing syndrome due to PPNAD is the main endocrine disorder of CNC, an autosomal dominant multiple neoplasia caused by germline inactivating mutations of the subunit type 1A (PRKAR1A) of the protein kinase A (PKA). In addition, germline inactivating mutations in the gene encoding phosphodiesterase 11A (PDE11A) have been identified in patients with PPNAD.Aim of the study: To investigate the role of PDE11A genetic alterati...

ea0022p382 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Surgical treatment of insulinomas: a single-institution experience of 48 patients

Carrere Nicolas , Voronca Corneliu , Vezzosi Delphine , Danjoux Marie , Bennet Antoine , Julio Charles Henri , Bloom Eric , Selves Janick , Guimbaud Rosine , Otal Philippe , Buscail Louis , Pradere Bernard , Caron Philippe

In a monocentric study on 48 patients with insulinomas treated between 1988 and 2008, we evaluate the results of the radiological and surgical procedures, and determine prognostic factors regarding the recurrence risk. Clinical, radiological, and histopathological findings were analysed along with long-term follow-up after surgery. Kaplan–Meier analysis studies recurrence-free survival, and uni- and multi-variable analyses determine prognostic factors related to recurrenc...

ea0081oc2.3 | Oral Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

Loss of lysine demethylase KDM1A in GIP-dependent bilateral macronodular adrenal hyperplasia with Cushing’s syndrome

Chasseloup Fanny , Bourdeau Isabelle , Tabarin Antoine , Regazzo Daniela , Dumontet Charles , Ladurelle Nataly , Tosca Lucie , Amazit Larbi , Proust Alexis , Scharfmann Raphael , Fiore Frederic , Tsagarakis Stylianos , Vassiliadi Dimitra , Maiter Dominique , Young Jacques , Lecoq Anne-Lise , Demeocq Vianney , Salenave Sylvie , Lefebvre Herve , Cloix Lucie , Emy Philippe , Desailloud Rachel , Vezzosi Delphine , Scaroni Carla , Barbot Mattia , de Herder Wouter , Pattou Francois , Tetreault Martine , Corbeil Gilles , Dupeux Margot , Lambert Benoit , Tachdjian Gerard , Guiochon-Mantel Anne , Beau Isabelle , Chanson Philippe , Viengchareun Say , Lacroix Andre , Bouligand Jerome , Kamenicky Peter

Context: Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing’s syndrome is caused by ectopic expression of GIP receptor in the adrenal tissue. The bilateral nature of this adrenal disease suggests germline genetic predisposition. We aimed to identify the molecular driver event responsible for ectopic GIP receptor expression in PBMAH.Methods: We conducted an internationa...