Searchable abstracts of presentations at key conferences in endocrinology

ea0063p100 | Calcium and Bone 1 | ECE2019

Evaluation of trabecular bone score in men with type 1 diabetes

Karytska Nadzeya , Dydyshka Yuliya , Shepelkevich Alla , Vasilyeva Natallia , Vadzianava Volha , Zhukouskaya Volha

Background and aims: According to modern researchers, in patients with type 1 diabetes (T1D), the presence of diabetic osteopathy and an increasing fracture risk is evident. However, the determination of bone mineral density only is not enough to adequately assess the quality of the bone. Thus, the aim of the study was to study of the lumbar spine trabecular bone score as qualitative bone characteristic in T1DM men.Materials and methods: 52 males with T1...

ea0063gp150 | Interdisciplinary Endocrinology 1 | ECE2019

Increased prevalence of overweight and obesity and its clinical predictors in children affected by x-linked hypophosphatemia

Zhukouskaya Volha V. , Rothenbuhler Anya , Colao Annamaria , Di Somma Carolina , Kamenicky Peter , Trabado Severine , Prie Dominique , Audrain Christelle , Barosi Anna , Kyheng Christele , Lambert Anne-Sophie , Linglart Agnes

Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate level. Scientific evidence points to link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.Patients/methods: We selected 172 XLH-children of 5-20 years (113 girls/59 boys). Anthropometric paramet...

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...

ea0063oc7.3 | 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...

ea0032p74 | Bone and Osteoporosis | ECE2013

Bone quality, as measured by trabecular bone score (TBS), in patients with primary hyperparathyroidism

Eller-Vainicher Cristina , Filopanti Marcello , Palmieri Serena , Ulivieri Fabio Massimo , Morelli Valentina , Zhukouskaya Volha V. , Cairoli Elisa , Pino Rosa , Naccarato Antonella , Verga Uberta , Scillitani Alfredo , Beck-Peccoz Paolo , Chiodini Iacopo

The fracture risk in primary hyperparathyroidism (PHPT) is partially independent of bone mineral density (BMD) and seems to depend on decreased bone quality, which is still reliably assessed only with invasive techniques. Trabecular bone score (TBS) is a grey-level texture measurement acquired during a dual X-ray absorptiometry (DXA) lumbar spine scan and it has been recently proposed as index of bone quality. This study is aimed to assess the role of TBS in predictin...

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‚Äźassociated 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...