Abstract Search

ea0044oc1.5 | Early Career Oral Communications | SFEBES2016

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

Iacovazzo Donato , Flanagan Sarah E. , Walker Emily , Caswell Richard , Brandle Michael , Johnson Matthew , Wakeling Matthew , Guo Min , Dang Mary N. , Gabrovska Plamena , Niederle Bruno , Christ Emanuel , Jenni Stefan , Sipos Bence , Nieser Maike , Frilling Andrea , Dhatariya Ketan , Chanson Philippe , de Herder Wouter , Konukiewitz Bjorn , Kloppel Gunter , Stein Roland , Ellard Sian , Korbonits Marta

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...

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ea0037gp.30.01 | Endocrine tumours and neoplasia – General | ECE2015

Temozolomide treatment for pituitary aggressive tumours and pituitary carcinomas: initial results and long-term follow-up of a cohort of 32 cases

Lasolle Helene , Castinetti Frederic , Cortet Christine , Cloix Lucie , Batisse-Lignier Marie , Bonnet Fabrice , Bourcigaux Nathalie , Chabre Olivier , Chanson Philippe , Delemer Brigitte , Lebrun-Frenay Christine , Garcia Cyril , Reznik Yves , Schillo Franck , Taillandier Luc , Maiter Dominique , Sadoul Jean-Louis , Caron Philipe , Raverot Gerald

Context: Successful used of temozolomide (TMZ) treatment has been described in 4050% of aggressive pituitary tumour (PT) or rare pituitary carcinoma. These results are based on 50 case-reports and small series, data on long-term follow-up being rare.Objectives: To describe initial results and long-term follow-up of a large French cohort of patients presenting PT treated with temozolomide.Design: Members of the French Society ...

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ePoster

ea0035oc5.1 | Adrenal & Thyroid | ECE2014

Diagnostic and therapeutic outcome in ERCUSYN: Preliminary report in over 1000 patients

Valassi Elena , Santos Alicia , Brue Thierry , Netea-Maier Romana T. , Feelders Richard A. , Yaneva Maria , Tsagarakis Stylianos , Pfeifer Marija , Chanson Philippe , Chabre Olivier , Zopf Kathrin , Toke Judit , Wass John AH , Droste Michael , Maiter Dominique , Dusek Tina , Komerdus Irina , Franz Holger , Lamberts Steven W.J. , Strasburger Christian J.

The European Registry on Cushings Syndrome (ERCUSYN) is designed to collect prospective and follow-up data on patients with Cushings syndrome (CS) and currently (Sep 2013) includes 1006 patients (804 F, 202 M; mean age (+S.D.) 44.7±13.3 years) from 57 centers in 28 countries.Six hundred and sixty one (66%) had pituitary-dependent CS (PIT-CS), 242 (24%) adrenal-dependent CS (ADR-CS), and 103 (10%) CS from other etiologies, ...

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ea0032p846 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Characteristics of patients with pituitary gigantism: results of an international study

Rostomyan Liliya , Daly Adrian F. , Tichomirowa Maria , Naves Luciana A. , Shah Nalini , Chanson Philippe , Zacharieva Sabina , Stratskis Constantine A , Neggers Sebastian , Holdaway Ian , Stalla Gunter K. , Pronin Vyacheslav , Maiter Dominique , Bertherat Jerome , Colao Annamaria , Ilovaiskaya Irena , Ferone Diego , Zacharin Margaret , Salvatori Roberto , Beckers Albert

Aim: To analyse a large series of patients with pituitary gigantism.Materials and methods: We included in this multicentre study 158 patients (129 males) with pituitary adenoma (PA) or hyperplasia and current/previous abnormal, excessively rapid growth velocity for age or a final height greater than 2 SD above normal for their population. Data of patients were systematically recorded in case report forms.Results: The...

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ea0056oc12.5 | Novel aspects of puberty development and Cushing's disease | ECE2018

Diabetes mellitus and muscle weakness are independently associated with mortality in patients with Cushing’s syndrome. Data from ERCUSYN

Valassi Elena , Tabarin Antoine , Brue Thierry , Feelders Richard A , Reincke Martin , Neteia-Maier Romana , Toth Miklos , Yaneva Maria , Webb Susan M , Tsagarakis Stylianos , Chanson Philippe , Pfeifer Marija , Droste Michael , Komerdus Irina , Kastelan Darko , Maiter Dominique , Chabre Olivier , Franz Holger , Santos Alicia , Strasburger Christian J , Trainer Peter J , Newell-Price John , Ragnarsson Oskar

Background: Patients with active Cushings syndrome (CS) have increased mortality.Aims: Evaluate cause of death in a large cohort of CS patients, and establish factors associated with increased mortality.Methods: We analysed 1514 patients included in the European Registry on Cushings syndrome (ERCUSYN): 1022 (68%) had pituitary-dependent CS (PIT-CS), 379 (25%) adrenal-dependent CS (ADR-CS), 71 (5%) had an ectopic source ...

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ea0073oc1.3 | Oral Communications 1: Adrenal and Cardiovascular Endocrinology | ECE2021

PDE11A4 (Phosphodiesterase 11 A4) is a modulator of the primary bilateral macronodular adrenal hyperplasia (PBMAH) phenotype: genotype/phenotype analysis of a cohort of 354 patients analysed by next-generation sequencing (NGS)

Vaduva Patricia , Anna Vaczlavik , Lucas Bouys , Neou Mario , Septier Amandine , Heurtier Victor , Cavalcante Isadora Pontes , RossellaLibe , Fabio Faucz , Gaetan Giannone , Kroiss Matthias , Borson-Chazot Francoise , Chanson Philippe , Tabarin Antoine , Marie-Christine Marie-Christine , Assié Guillaume , Candida Barisson Villares Fragoso Maria , Constantine Stratakis , Ragazzon Bruno , Bertherat Jerome

IntroductionPrimary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of adrenal Cushings syndrome due to bilateral adrenal tumors, is an heterogenous disease with various clinical, hormonal and morphological characteristics. ARMC5 inactivating mutations is the most frequent genetic cause of PBMAH and variants of PDE11A4 have been associated with the disease. In order to better understand the heterogeneity ...

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ea0073pep13.6 | Presented ePosters 13: Pituitary and Neuroendocrinology | ECE2021

Improved acromegaly patient satisfaction with oral octreotide capsules compared with injectable somatostatin receptor ligands in the MPOWERED trial

Gordon Murray B , Fleseriu Maria , Dreval Alexander V , Pokramovich Yulia , Bondar Irina , Isaeva Elena , Molitch Mark E , Macut Djuro P , Leonova Nina , Raverot Gerald , Kirschner Lawrence S , Chanson Philippe , Yossi Gilgun-Sherki , Ludlam William H , Patou Gary , Haviv Asi , Biermasz Nienke , Melmed Shlomo K , Christian J Strasburger

BackgroundImproved patient-reported outcomes (PROs) are increasingly becoming a key treatment objective in acromegaly. Validated PROs were used to assess disease and treatment burden in the MPOWERED phase 3 trial in acromegaly, which also assessed safety and efficacy of oral octreotide capsules (OOC; MYCAPSSA®) compared to injectable SRLs (iSRLs).MethodsEligible patients had acromegaly diagnosis, biochem...

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ea0056cet1biog | Clinical Endocrinology Trust Lecture | ECE2018

Clinical Endocrinology Trust Lecture

The Clinical Endocrinology Trust (CET) Award is given for clinical research that addresses aspects of endocrinology at the forefront of clinical practice. This years recipient is Professor Philippe Chanson who will receive his prize and give his lecture as part of the European Congress of Endocrinology (ECE), beginning on the 19 May 2018. The award is sponsored by the Clinical Endocrinology Trust and further information can be found at <a href="https://www.ese-hormones.o...

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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 Cushings 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...

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ea0070aep12 | Adrenal and Cardiovascular Endocrinology | ECE2020

Identification of clinical parameters predictive of ARMC5 mutation in a large cohort of primary bilateral macronodular adrenal hyperplasia (PBMAH) patients.

Bouys Lucas , Vaczlavik Anna , Vaduva Patricia , Espiard Stéphanie , Assié Guillaume , Libe Rossella , Perlemoine Karine , Ragazzon Bruno , Guignat Laurence , groussin Lionel , Olivier Chabre , Sophie Christin-Maitre , Hervé Lefebvre , Raffin-Sanson Marie-Laure , Vantyghem Marie-Christine , Cole Trevor , Beuschlein Felix , Quinkler Marcus , Angelousi Anna , brue Thierry , Sadoul Jean-Louis , Agapito Ana , Tabarin Antoine , Borson-Chazot Francoise , Kroiss Matthias , Arlt Wiebke , Chanson Philippe , Reincke Martin , North Marie-Odile , Bertherat Jerome

Introduction: PBMAH is a rare but heterogeneous disease, characterized by multiple benign adrenal macronodules with variable levels of cortisol excess. In 2013, our team discovered germline heterozygous inactivating mutations of ARMC5, acting as a tumor suppressor gene. ARMC5 mutation rate is 50% in patients with PBMAH treated by adrenalectomy for severe hypercortisolism, 80% in familial cases and 20% in sporadic cases according to the current literature. The...

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Endocrine Abstracts

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

Temozolomide treatment for pituitary aggressive tumours and pituitary carcinomas: initial results and long-term follow-up of a cohort of 32 cases

Diagnostic and therapeutic outcome in ERCUSYN: Preliminary report in over 1000 patients

Characteristics of patients with pituitary gigantism: results of an international study

Diabetes mellitus and muscle weakness are independently associated with mortality in patients with Cushing’s syndrome. Data from ERCUSYN

PDE11A4 (Phosphodiesterase 11 A4) is a modulator of the primary bilateral macronodular adrenal hyperplasia (PBMAH) phenotype: genotype/phenotype analysis of a cohort of 354 patients analysed by next-generation sequencing (NGS)

Improved acromegaly patient satisfaction with oral octreotide capsules compared with injectable somatostatin receptor ligands in the MPOWERED trial

Clinical Endocrinology Trust Lecture

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

Identification of clinical parameters predictive of ARMC5 mutation in a large cohort of primary bilateral macronodular adrenal hyperplasia (PBMAH) patients.

BiosciAbstracts