ESPE Abstracts

Background: Hypophosphataemic rickets is a rare, and challenging condition to diagnose as the biochemical and radiological features are subtle compared with the more common calcipaenic rickets. Retrospective review of 4yr-old girl with PHEX mutation initially managed as Blount’s disease with surgery showed low (0.93 mmol/l), but within reference interval phosphate levels at initial presentation which caused some diagnostic uncertainty. Paediatric phospha...

Introduction: XLH is caused by mutations in PHEX leading to increased FGF23 levels, phosphate wasting, and impaired endogenous calcitriol synthesis. Affected patients present with rickets and diminished growth velocity during childhood, and osteomalacia and short stature in adulthood. Adult height is linked with health within and across generations suggesting that adult height may be a potential tool for monitoring health conditions, e.g., XLH.<p ...

Objectives: X-linked hypophosphataemia (XLH) is a rare, hereditary phosphate-wasting disorder characterised by excessive activity of fibroblast growth factor 23. The International XLH Registry (NCT03193476) (initiated in August 2017, target 1,200 children and adults with XLH, running for 10 years) will provide information on the natural history of XLH and impact of treatment on patient outcomes. This report summarises baseline data from the first interim analy...

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

Introduction: Burosumab was approved for treatment of pediatric patients with X-linked hypophosphatemia (XLH). However, data on its efficacy in adolescents (age > 12 years) and in real-world settings are lacking.Material and methods: Here we assess the effects of 12 months burosumab treatment on mineral homeostasis in 77 pediatric XLH patients (50 children, 27 adolescents) enrolled in the German XLH Registry. Age and ...

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...