Searchable abstracts of presentations at key conferences in endocrinology

ea0070oc8.6 | Environmental Endocrinology | ECE2020

Temporal and spatial trends of operated cryptorchidism in France and environmental hypotheses: a nationwide study from 2002 to 2014

Le Moal Joëlle , Goria Sarah , Guillet Agnès , Rigou Annabel , Chesneau Julie

Introduction: Santé publique France develops a national epidemiological monitoring program to study health indicators related to endocrine disruptor exposure. Based on the weight of evidence, cryptorchidism was selected for this purpose. In this study, we aimed to analyze temporal, spatial and spatio-temporal trends of cryptorchidism during the period 2002–2014 in France, and explore and/or generate environmental hypotheses.Methods: We built a...

ea0014p311 | (1) | ECE2007

Thyroid and gastric autoimmune diseases

Morel Stéphanie , Georges Agnès , Bordenave Laurence , Corcuff Jean-Benoît

Background & aim: Autoimmune thyroid disease (AITD) is frequently accompanied by other organ-specific diseases. The aim of this study was to estimate the frequency of the association AITD-Biermer’s disease (pernicious anemia) by investigating the presence of intrinsic factor antibodies (IF-Ab) in the serum of patients with AITD.Methods: Sera from patients with biological signs of AITD (increased serum TSH levels associated to detectable thyroid ...

ea0014p654 | (1) | ECE2007

Adrenal morphology on CT-scan in patients with congenital adrenal hyperplasia

Bachelot Anne , Roffi Fabio , Rouxel Agnès , Eiss David , Touraine Philippe

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive diseases. Decreased production of cortisol leads to increased secretion of CRH and ACTH, resulting in overproduction of androgens and hyperplastic adrenals. 21-OH deficiency has thus been speculated to predispose for the formation of morphological adrenal abnormalities. However, studies are rare, the most relevant showing a high incidence of adrenal masses in 82%...

ea0070aep798 | Reproductive and Developmental Endocrinology | ECE2020

Comparison of three automated assays of AMH

Lauro Cindy , Sieuw Aurélie , Ion Andrea , Corcuff Jean-Benoît , Brossaud Julie , Georges Agnès

Anti-Mullerian Hormone (AMH) is a 140 kDa gonadal glycoprotein of the TGFβ family, with two subunits linked by two disulfide bridges. Since a first assay in 1990, three generations of assays occurred: the 1st and 2nd were manual assays. The 3rd was automated: Access AMH Kits (Beckman Coulter) and Elecsys AMH (Roche). We had the opportunity to compare two new analysers with the Elecsys AMH: Vidas (Biomérieux) and Lumipulse G (Fujirebio). The later are one-step sandwic...

ea0014p431 | (1) | ECE2007

Endocrine function in a 48,XXYY adult

Dubois Séverine , Illouz Fréderic , Laboureau Sandrine , Draunet Catherine , Rohmer Vincent , Guichet Agnès

Within the group of gonosomal aneuploidy, the 47,XXY Klinefelter syndrome is a well-known chromosomal anomaly with a clearly delineated phenotype. Since the 48,XXYY polysomy is rather rare and associated with hypogenitalism, it has often been considered as a variant of the Klinefelter syndrome. Nevertheless, several differences have been reported, in particular the greater severity and prevalence of mental retardation and psychiatric illness in patients with a 48,XXYY syndrome...

ea0073aep81 | Calcium and Bone | ECE2021

Bone consequences of high dose denosumab to treat an aneurysmal bone cyst, an example of the European Reference Network support

Sindaco Giulia Del , Berlanga Pablo , Brugieres Laurence , Thebault Eric , Mantovani Giovanna , Wicart Philippe , Agnès Linglart

Aneurysmal bone cysts (ABCs) are rare pseudotumoral bone lesions with potential aggressive behavior due to the extensive destruction of surrounding bone. Besides surgery, denosumab has been investigated as a treatment for benign fibro-osseous lesions. As for ABCs, pediatric experience is limited, reporting mainly beneficial effects on lesions growth and associated pain. Some reports included well known side effects associated with denosumab, such as the rebound hypercalcemia a...

ea0070ep6 | Adrenal and Cardiovascular Endocrinology | ECE2020

References values for midnight serum cortisol

Lauro Cindy , Rigo Marine , Sieuw Aurélie , Georges Agnès , Haissaguerre Magalie , Tabarin Antoine , Brossaud Julie , Corcuff Jean-Benoît

The loss of nychthemeral rhythm is a feature of endogenous hypercorticism that may be investigated by the assay of midnight salivary cortisol (serC0h) although often replaced by serum cortisol assay. However, manufacturers of cortisol immunoassays kits seldom provide reference values for this horary. We present here tentative reference values of serC0h with an automated imunoanalyzer (DXi800, Beckman Coulter).The population retrospe...

ea0073aep116 | Calcium and Bone | ECE2021

European Registries for Rare Endocrine Conditions (EuRRECa): The use of an e-reporting tool for registering calcium and phosphate conditions

Ana Luisa Priego Zurita , Bryce Jillian , Ali Salma Rashid , Diana-Alexandra Ertl , Grasemann Corinna , Haeusler Gabriele , Rejnmark Lars , Ahmed Faisal , Natasha-Appelman Dijkstra , Agnès Linglart

IntroductionThe European Registries for Rare Endocrine Conditions (EuRRECa) project was launched in February 2018 and aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is closely linked to the European Reference Networks on Rare Endocrine Conditions (Endo-ERN) and Rare Bone Diseases (ERN BOND) with its registry EuRR-Bone....

ea0070oc2.1 | Bone and Calcium | ECE2020

Real-life clinical study: 1-year of treatment with burosumab of children and adolescents affected with X-linked hypophosphatemia

Zhukouskaya Volha , Mannes Ines , Chaussain Catherine , Audrain Christelle , Lambert Anne-Sophie , Adamsbaum Catherine , Kamenicky Peter , Nevoux Jerome , Wicart Philippe , Briot Karine , Di Rocco Federico , Trabado Séverine , Prié Dominique , Di Somma Carolina , Colao Annamaria , Rothenbuhler Anya , Linglart Agnès

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX mutation, leading to elevated FGF23, renal phosphate wasting, hypophosphatemia, insufficient 1,25(OH)2D synthesis. Clinically, it manifests with rickets including leg deformities, poor growth, dental abscesses, craniosynostosis, and hearing loss. Beyond conventional treatment (phosphate supplements + active vitamin D), burosumab is pathogenetic anti-FGF23 therapeutic approa...

ea0073oc6.2 | Oral Communications 6: Calcium and Bone | ECE2021

AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

Zhukouskaya Volha , Jauze Louisa , Charles Séverine , Leborgne Christian , Hilliquin Stéphane , Sadoine Jérémy , Slimani Lotfi , Baroukh Brigitte , van Wittenberghe Laetitia , Daniele Natalie , Rajas Fabienne , Linglart Agnès , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe

Adeno‐associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitati...