Bone Abstracts

Background: Hypophosphataemic rickets is a rare form of rickets characterised by hypophophatamaemia and hyperphosphaturia. Children can present with bowed legs, gait abnormalities or persisting rickets. Occasionally the clinical and biochemical features may be mild. It is most commonly caused by a mutation in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene which leads to an elevated FGF23.Objectives: We wished to review our cohort of...

Background: Lysinuric Protein Intolerance (LPI) is a rare autosomal recessive metabolic disorder affecting amino acid transport. The condition typically presents at weaning, with recurrent diarrhoea and vomiting especially following protein rich meals. It may have a multisystem clinical presentation including growth and haematological abnormalities and rarely osteoporosis. The diagnosis is based on biochemical findings, including increased urine and reduced plasma concentratio...

Objectives: Gender Identity Disorder (GID) occurs when a person’s gender identity differs from their biological sex, causing distress. GID presenting in childhood can dissipate at puberty. If it persists, they may progress to physical interventions. This involves the use of a GnRH analogue (GnRHa) for one year followed by cross sex hormones.Methods: As part of the clinical assessments, adolescents had body composition measurements and annual bone de...

Background: Hyperphosphatasia may be seen in liver disorders or metabolic bone disease with the most common cause likely to be Vitamin D deficiency. However, we report the case of child who had high ALP levels from infancy along with intellectual retardation. Genetic testing revealed Mabry Syndrome.Presenting problem: At birth, a micrognanthia and a cleft palate was apparent. She went to have developmental delay, impaired vision, and was wheelchair depen...

Objectives: Gender Dysphoria (GD) occurs when a person’s gender identity differs from their biological sex. GID presenting in childhood can dissipate at puberty. If it persists, physical interventions commence with the use of a GnRH analogues (GnRHa) for one year followed by cross sex hormones.Methods: Adolescents with a diagnosis of GD were reviewed in a national GD clinic at Leeds Teaching Hospitals, UK. Standardised medical assessments included c...

Background: Valproic Acid (VPA) is a commonly used antiepileptic drug in the management of childhood epilepsy. Renal dysfunction presenting as Fanconi syndrome (FS) is a rare side effect of VPA use. This can lead to renal tubular phosphate loss, resulting in hypophosphataemic rickets, low bone mass and fractures. We report 6 children with VPA induced FS from three tertiary paediatric metabolic bone centres across England.Presenting problem: P1: Global de...

Objectives: To determine the national prevalence, management and long term outcomes of patients who develop osteonecrosis after initiation of treatment for acute lymphoblastic leukaemia (ALL).Methods: The central trials unit for the leukaemia trial UKALL2003 identified patients with reported bone toxicity out of the 3126 patients recruited into the study. Questionnaires were sent to each relevant treatment centre requesting information about each patient...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...