Endocrine Abstracts

Aims: To examine, in children with Osteogenesis Imperfecta (OI): the prevalence of overweight and obesity, longitudinal trends in body mass index (BMI) z-scores and total body fat percentage (TBF) assessed on dual-energy X-ray absorptiometry (DXA) scans, correlation between BMI and TBF and fractures and BMI z-score.Methods: Retrospective cross-sectional and longitudinal analysis of children with OI, with minimum 5 years data on DXA scans, at a single nat...

Background and objectives: Children with Osteogenesis Imperfecta (OI) require frequent imaging for fractures and surveillance of bone mineral density. Radiation exposure in childhood carries the highest risk of cancer. Here, we estimate the cumulative effective radiation dose (E) and lifetime cancer risk (LAR) from imaging in children with OI. We also explore the hypothesis that the rate of fracture positive imaging for investigation of injuries is related to family history of...

Polycystic ovary syndrome (PCOS) is a clinical triad of anovulation, hyperandrogenism and insulin resistance. Patterns of fat distribution in PCOS may be associated with androgen activation, glucocorticoid metabolism and insulin resistance. Here we analysed the relationship between fat distribution, steroid metabolism and insulin resistance in women with PCOS.We compared results from 100 PCOS patients (Rotterdam criteria) with 80 sex- and BMI-matched con...

Background: Osteoporosis and vertebral fracture development are common in young people with Duchenne muscular dystrophy (DMD) and can lead to chronic back pain and reduced quality of life. The current standards of care recommend initiation of bisphosphonate treatment following identification of fractures. Given the extent of fractures in these young people, initiation of treatment prior to fractures seems logical. This study aimed to explore the opinions of young people with D...

Increased adiposity is associated with insulin resistance, type 2 diabetes and metabolic dysfunction. Altered adipokine secretion, changes in local and systemic glucocorticoid metabolism and increased inflammation have all been postulated as contributory mechanisms. We have previously described changes in subcutaneous adipose tissue (SAT) gene expression that are associated with obesity and glucose intolerance in cross-sectional studies. However, the effects of longitudinal ch...

Context: Androgen excess, obesity and hyperinsulinaemia are the cardinal features of polycystic ovarian syndrome (PCOS). While several studies have addressed the relationship between androgen excess and hyperinsulinaemia, the link between androgen excess and fat distribution remains largely undefined. Recent work has highlighted the importance of adipose tissue as an organ of androgen activation. Here, we evaluated the relationship between visceral fat and androgen excess in w...

Dysregulation of the enzymes that control local tissue steroid metabolism has been implicated in the pathogenesis of obesity and insulin resistant states, however longitudinal changes in glucocorticoid metabolism over time have not been investigated. This study was designed to evaluate the role of pre-receptor glucocorticoid metabolism in the development of insulin resistance and obesity. 24 h urinary glucocorticoid and mineralocorticoid metabolites were measured by gas chroma...

Polycystic ovary syndrome (PCOS) is a clinical triad of anovulation, insulin resistance, and androgen excess. Hyperandrogenism may correlate with metabolic risk but PCOS consensus criteria currently define androgen excess on the basis of serum testosterone only. Here we studied the utility of the androgen precursor serum androstenedione in conjunction with serum testosterone as a predictor of metabolic dysfunction in PCOS.86 PCOS patients fulfilling Rott...

Introduction: Premature adrenarche (PA) is characterised by elevated adrenal androgens in pre-pubertal children presenting pubic/axillary hair, body odour, greasy hair, and transient growth acceleration. It is still unclear if children with PA are at increased risk of developing metabolic dysfunction or progressing to Polycystic Ovary Syndrome (PCOS) after puberty.Aim: We launched a deep phenotyping study in children with PA from our large, multi-diverse...

Introduction: International standards of care for DMD recommend yearly spinal imaging for those on GC and the use of bisphosphonates (BP) for those with symptomatic or moderate asymptomatic vertebral fractures (VF). In view of the significant morbidity associated with VF and the potential for VF cascade, however, there may be justification for prophylactic BP in DMD. Although IV BP are used for treatment, there may be practical and cost advantages of using oral BP prophylactic...