ESPE Abstracts

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

Background: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia when paternally inherited. Mutations on the paternal, but not the maternal, GNAS allele are associated with intrauterine growth retardation (IUGR). Moreover, birth weights were lower with paternal GNAS mutations affecting exons 2–13 (including XL and Gαs) than with exo...

Adult CAH patients have poor health outcomes and these in part relate to the method of glucocorticoid replacement in children and adults. Life-saving glucocorticoid replacement was introduced in the 1950s and the majority of children are treated with immediate release hydrocortisone whereas adults are treated with a mixture of hydrocortisone, prednisolone, prednisone and dexamethasone from one to four times daily and in circadian and reverse circadian regimens. Despite these p...

Background: Glucocorticoid therapy in 21-hydroxylase deficiency (congenital adrenal hyperplasia, CAH) both replaces the cortisol deficiency and reduces adrenal androgen production. Androgen control, however, often requires supraphysiologic and/or nocturnal glucocorticoid exposure. Chronic treatment in this manner contributes to long-term complications observed in CAH cohorts, including high rates of obesity, low bone density, glucose intolerance, skin fragility, and excess mor...

Recent data pertaining to the bio-psychosocial development of the adolescent, particularly from a neurobiological perspective, indicate that both at the level of individual care and of preventive strategies, the concepts, languages and strategies used should be adapted to the maturity of the adolescents. Moreover, since around thirty years under the era of AIDS, the medical scientific literature tackling the issue of adolescent sexuality and sexual behavior has sadly focused e...

Background: We present four patients who presented with seizures and their journey to diagnosis. All were managed for some time as epilepsy before the diagnosis of hypocalcaemia was made.Objective and hypotheses: To confirm not all seizures are epileptiform.Method: Case reports.Results: Case 1. Seen at age 4 with seizures. EEG normal. Mild language delay. Seizures continued intermittently on anti-epilepsy med...

Background: Bone mass is low in obese children when measured by conventional techniques. However, these imaging modalities cannot quantify alterations in bone microstructure and strength. High resolution peripheral quantitative computed tomography (HRpQCT – isotropic voxel size 82 mm) provides the resolution required to determine 3-dimensional in-vivo bone microstructure; microfinite element (microFE) analysis of HRpQCT images provides insight into skeletal biome...

Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...