ESPE Abstracts

Background: The growth hormone-insulin-like growth factor (GH-IGF) axis plays a crucial role in bone growth, as evidenced by the phenotypes of patients with pathogenic IGF1 receptor (IGF1R) gene variants. These mutations lead to pre- and post-natal growth impairment and short stature. However, the molecular mechanisms of IGFs on human growth plate chondrocytes remain unclear, mainly due to the lack of tissue samples from healthy children.<p class=...

Objectives: This report presents the unusual case of an 8-year-old boy with tumor-induced osteomalacia (TIO) characterized by suppressed FGF-23 levels.Case Presentation: An 8-year-old boy presented with a six-month history of left knee pain, exacerbated by walking. Physical examination revealed genu valgus without signs of inflammation. X-rays indicated rickets, prompting a referral to a pediatric endocrinology clinic. L...

Introduction: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disorder causing phosphate wasting; hence symptoms in children include impaired growth, lower limb deformities, chronic pain and impaired physical function. Health-related quality of life (HRQoL) of patients with XLH on conventional therapy is lower than that of the general population. Burosumab has been shown to improve HRQoL in younger children and adults, but its effects in adoles...

Background: Achondroplasia is the most common form of skeletal dysplasia, caused by activating mutations of FGFR3 gene. In the previous years the management of achondroplasia was focused on prevention and treatment of complications related to the altered cartilage maturation. Therapeutic spectrum of achondroplasia was broadened by approval of Vosoritide (VOXOZOGO®), a synthetic recombinant analogue of C-natriuretic peptide (CNP). The interaction between ac...

Background: Achondroplasia (ACH) is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene. It results in severe disproportionate short stature and medical complications requiring multidisciplinary care. Vosoritide, a C-type natriuretic peptide analogue, is currently the only approved targeted treatment for children with ACH from birth to epiphyseal closure. Understanding real-world ACH management ...

Background: Mutations in the ANKH gene affect the cellular transportation of the bone mineralization inhibitor, inorganic pyrophosphate (PPi). Loss-of-function mutations in this gene result in craniometaphyseal dysplasia (CMD), a rare disorder characterized by bone hyperostosis, particularly in the craniofacial bones, and metaphyseal widening of long bones. CMD patients experience impaired transport of PPi to extracellular compartment, leading to exce...

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, phosphate-wasting disorder that compromises skeletal development in childhood. The international XLH registry (NCT03193476) is a non-interventional, observational, real-world data collection programme established in August 2017 in Europe and Israel, with enrolment open to patients of any age with XLH.Objectives: To describe real-world registry data on HR...

Objectives: Lower limb deformities are a significant burden for patients with rickets and related disorders. However, there is limited structured data on this important symptom in hypophosphatemic and hypocalcemic conditions. This review aims to present the available data and identify gaps in the literature regarding lower limb deformities in patients with hypophosphatemic rickets (HPR) such as XLH and hypocalcemic types of rickets (HCR).<p class="abstext"...

Introduction: Mutations of the SCN8A gene, which encodes a neuronal voltage-gated sodium channel are associated with an epileptic encephalopathy of varying severity and neurodevelopmental delay. A few cases are reported, where epileptic encephalopathy due to SCN8A mutations have been associated with multiple fractures and bone loss suggestive of juvenile osteoporosis.Case Presentation: Two girls, aged 19-months were refe...