Searchable abstracts of presentations at key conferences in endocrinology
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21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

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18-21 May 2019, Lyon, France

Oral Communications

Endocrine Connections 1

ea0063oc7.1 | Endocrine Connections 1 | ECE2019

Cortisol suppression or peripheral sensitivity and activation are associated with diabetes, hypertension and fragility fractures in postmenopausal eucortisolemic women

Aresta Carmen , Chiodini Iacopo , Gaudio Agostino , Eller-Vainicher Cristina , Morelli Valentina , Zhukouskaya Volha V , Merlotti Daniela , Orsi Emanuela , Barbieri Anna Maria , Fustinoni Silvia , Polledri Elisa , Gennari Luigi , Falchetti Alberto , Carnevale Vincenzo , Persani Luca , Scillitani Alfredo

Background: Cortisol excess is associated with a higher prevalence of hypertension (Hy), type 2 diabetes (T2D) and fragility fractures (FX). A possible association between T2D and fragility FX with the degree of glucocorticoid (GC) suppression and peripheral activation or sensitivity even in non-hypercortisolemic subjects has been previously suggested.Aim: To assess if the degree of GC suppression or peripheral sensitivity and activation are associated w...

ea0063oc7.2 | Endocrine Connections 1 | ECE2019

Thyroid hormones are new key regulators of glucocorticoid metabolism

Bessiene Laura , Hescot Segolene , Bourdin-Pintueles Alexandra , Dumeige Laurence , Vitellius Geraldine , Perrot Julie , Xu Qiong-Yao , Vu Thi-An , Sachs Laurent , Pussard Eric , Lombes Marc , Viengchareun Say , Martinerie Laetitia

The 11-beta hydroxysteroid dehydrogenase (11βHSD) isozymes are well-known regulators of glucocorticoid hormone metabolism: 11βHSD2, mostly expressed in the distal nephron, converts cortisol [F] into cortisone [E] in humans or corticosterone into 11-dehydrocorticosterone in rodents (11-dehydro derivatives being inactive compounds), and 11βHSD1, ubiquitously expressed but predominantly in the liver, catalyzes the opposite reaction. Under pathophysiological conditi...

ea0063oc7.3 | Endocrine Connections 1 | ECE2019

Higher dose of burosumab is needed for treatment of children with sever forms of X-linked hypophosphatemia

Zhukouskaya Volha V , Audrain Christelle , Lambert Anne-Sophie , Colao Annamaria , Kamenicky Peter , Adamsbaum Catherine , Nevoux Jerome , Chaussain Catherine , Wicart Philippe , Briot Karine , Rocco Federico Di , Trabado Severine , Prie Dominique , Rothenbuhler Anya , Linglart Agnes

Background/aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for the treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of the present study.Patients/methods: Thirty-nine children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), on the basis of following indications: non-resp...

ea0063oc7.4 | Endocrine Connections 1 | ECE2019

Non-invasive detection of GNAS mutations causing McCune-Albright Syndrome with ddPCR on whole blood or circulating DNA

Romanet Pauline , Philibert Pascal , Fina Frederic , Cuny Thomas , Reynaud Rachel , Paris Francoise , Barlier Anne

Context: Postzygotic activating mutations in GNAS are responsive for fibrous dysplasia (FD) and McCune-Albright Syndrome (MAS). MAS is a rare disease associating fibrous dysplasia, to skin pigmentation and endocrine disorders. The classic genetic non-invasive methods are insufficiently sensitive to detect GNAS mutation, due to a low level of mosaicism in blood. Early diagnostic should allow a follow-up and a therapeutic choice adapted to the MAS context in or...

ea0063oc7.5 | Endocrine Connections 1 | ECE2019

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome: French prospective study in a cohort of 25 patients

Humbert Linda , Dubucquoi Sylvain , Kemp Helen , Veber Pascale Saugier , Fabien Nicole , Top Isabelle Raymond , Bauters Catherine Cardot , Cartigny Maryse , Delemer Brigitte , Docao Christine , Penfornis Alfred , Guignat Laurence , Kerlan Veronique , Lefevbre Herve , Chabre Olivier , Vanhove Laura , Sendid Boualem , Carel Jean-Claude , Souchon Perre-Francois , Weil Jacques , Vantyghem Marie-Christine , Wemeau Jean-Louis , Proust-Lemoine Emmanuelle

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (AI) with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France alt...