Endocrine Abstracts

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...

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare, genetic and devastating disease characterized by progressive heterotopic ossifications (HO) in muscles, tendons, ligaments and fascia. The formation of HO leads to severe contractures and early death. There are no approved medications yet. The STOPFOP team identified AZD0530 (saracatinib) as a potent, low nanomolar inhibitor of the mutant ALK2 kinase which is the unique genetic driver of this rare bone disease....

Background: Primary hyperparathyroidism (PHPT) is characterized by an excessive secretion of the parathyroid hormone (PTH) with normal or high calcium levels. The gold standard therapy involves minimally invasive parathyroidectomy with intraoperative PTH (ioPTH) monitoring. Different criteria have been identified when predicting cure rates using ioPTH values.Objective: To evaluate the percent ioPTH drop (ΔioPTH), the post-excision ioPTH, the first p...

Introduction: Glucocorticoid (GC)-induced osteoporosis is a widespread problem that is accompanied with increased fracture risk. Currently, it is unknown whether detrimental effects of GC therapy on bone are simply the consequence of supraphysiological GC doses, or whether absence of the endogenous GC rhythm also plays a role. In this study, we aimed to elucidate the importance of the presence of a diurnal corticosterone (CORT) rhythm, the primary GC in mice, for bone quality....

Background: Vitamin D is important to skeletal health and is standard care in conditions with low BMD. Thyrotoxicosis caused by Graves’ disease (GD) leads to increased bone turnover and reduced BMD. We aimed to test the hypothesis that vitamin D supplementation would improve bone recovery in GD.Methods: Using a double-blinded design, hyperthyroid patients with a first time diagnosis of GD were randomized to supplementation with vitamin D3 70 mg/day...

Background: Vitamin D deficiency is a worldwide health issue that affects more than one billion people. Few guidelines assess optimal dosing of vitamin D in general population, and although there is no international consensus, the optimum dosing for vitamin D3 and mainly calcifediol is not known.Objective(s): To assess the efficacy of calcifediol in the treatment of vitamin D deficiency, compared with therapeutic guidelines recommendations for cholecalci...

Background: Osteoporosis is common in primary hyperparathyroidism (PHPT). It is also an indication for parathyroidectomy in PHPT. Bone mineral density (BMD) measured by dual-energy x-ray absorptiometry (DXA) increases after successful surgery. Alendronate significantly increases BMD in PHPT patients not undergoing surgery. It is not known whether surgery alone or in combination with postoperative zoledronic acid more efficiently improves bone health in PHPT.<p class="abste...