Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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...