ESPE Abstracts

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

Background: Vertebral fractures (VF) are recognised as an important aspect of bone health in children and adolescents, yet most of them are not clinically apparent. The clinical utility of vertebral fracture assessment (VFA) using dual-energy X-ray absorptiometry (DXA) for vertebral morphometry has not been evaluated in the paediatric population.Method: VFA was performed independently by two non-radiologist observers in 110 patients (52M/58F) as part of ...

Background: Prenatal diagnosis (PND) via amniocentesis or chorionic villus sampling may result in the identification of a sex chromosome abnormality, often as an incidental finding.Objective and hypotheses: The aims of this study were to ascertain the prevalence of sex chromosome abnormalities detected by prenatal diagnosis in Scotland and to determine the outcomes for these cases.Method: A retrospective review of all prenatal kary...

Background: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Method: Markers of bone metabolism were evaluated in 15 children (9M/6F) undergoing BPT for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX), alkaline phosphatase (AL...

Background: There is growing concern about the impact of eating disorders on the bone heath during adolescence where peak bone mass acquisition is of paramount importance.Method: A total of 85 patients (77F/8M, 75% anorexia nervosa(AN) and 25% atypical eating disorder), median age 15.2 years (range, 10.9–19.8) and median BMI SDS −1.3 (−4.7 to 0.8) attended the bone densitometry service between Jan 2009 and Dec 2013 for total body (TB) an...

Background: Short stature is a recognized complication of Crohn’s disease (CD) in children. Less is known on the impact of disease on final adult height and body proportions.Objective and hypotheses: To assess height and body proportions in 48 adults (F: 30; M: 18) with childhood (ACO) or adult (AAO) onset CD and 44 children (C) (F:22; M:22) with CD.Method: Standing, sitting height (SH) and leg length (SILL) were measured and ...

Background: With improvements in assays and an increasing need for non-invasive out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (uGn) for assessing pubertal progress.Objective and hypotheses: This study aims to establish the correlation between serum and urinary LH and FSH in patients with pubertal concerns.Method: 36 boys and girls aged 14.9 years (range 7.8–17.3) and 9.5 yea...

Background: In children undergoing investigation of testicular function the relationship between serum anti-Mullerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Method: 75 children (3F, 72M) with a median age of 1.08 years (range, 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an additional prolonged HST. Normal te...

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...