Searchable abstracts of presentations at key conferences in endocrinology

ea0085oc5.6 | Oral Communications 5 | BSPED2022

Prevalence of overweight and obesity in children with bone fragility and its correlation with disease severity and fracture rate

Anilkumar Anjitha , Crabtree Nicola , Saraff Vrinda , Nadar Ruchi , Uday Suma

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...

ea0051oc4.2 | Oral Communications 4 | BSPED2017

Cumulative radiation exposure from imaging and associated lifetime cancer risk in children with osteogenesis imperfecta

Thorby-Lister Amy , Hogler Wolfgang , Hodgson Kirsten , Crabtree Nicola , Shaw Nick , Saraff Vrinda

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...

ea0031p332 | Steroids | SFEBES2013

Truncal fat distribution is associated with enhanced glucocorticoid excretion, increased 5α-reductase activity and higher insulin resistance independent of BMI in women with polycystic ovary syndrome

O'Reilly Michael , Hodson James , Crabtree Nicola , Hazlehurst Jon , Stewart Paul , Tomlinson Jeremy , Arlt Wiebke

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...

ea0038p211 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2015

Longitudinal changes in adipose tissue gene expression profile are asociated with deteriorating glucose tolerance

Woods Conor , Crowley Rachel , Gathercole Laura , Hughes Beverly , Gray Joanna , McCarthy Theresa , Crabtree Nicola , Stewart Paul , Tomlinson Jeremy

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...

ea0038p356 | Reproduction | SFEBES2015

Visceral fat drives 5α-reductase activity independent of BMI in women with polycystic ovarian syndrome

Kempegowda Punith , O'Reilly Michael W , Crabtree Nicola J , Taylor Angela E , Hughes Beverly A , Tomlinson Jeremy W , Arlt Wiebke

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...

ea0034p260 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2014

Longitudinal changes in glucocorticoid metabolism predict the development of metabolic phenotype

Crowley Rachel , Hughes Beverly , Gray Joanna , McCarthy Theresa , Hughes Susan , Shackleton Cedric , Crabtree Nicola , Nightingale Peter , Stewart Paul , Tomlinson Jeremy

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...

ea0034p349 | Steroids | SFEBES2014

Hyperandrogenaemia predicts metabolic phenotype in polycystic ovary syndrome: the utility of serum androstenedione

O'Reilly Michael , Taylor Angela , Crabtree Nicola , Hughes Beverly , Capper Farfia , Crowley Rachel , Stewart Paul , Tomlinson Jeremy , Arlt Wiebke

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...

ea0037gp.04.02 | Steroids | ECE2015

The modulation of corticosteroid metabolism by hydrocortisone therapy in patients with hypopituitarism increases tissue glucocorticoid exposure

Sherlock Mark , Behan Lucy Ann , Hannon Mark , Alonso Aurora Aragon , Thompson Christopher , Murray Robert , Crabtree Nicola , Hughes Beverly , Arlt Wiebke , Agha Amar , Toogood Andrew , Stewart Paul M

Context: Patients with hypopituitarism have increased morbidity and mortality. There is ongoing debate around the optimum glucocorticoid replacement therapy.Objective: To assess the effect of glucocorticoid replacement in hypopituitarism on corticosteroid metabolism and its impact on body composition.Design and patients: We assessed the urinary corticosteroid metabolite profile (using gas chromatography/mass spectrometry) and body ...

ea0030p8 | (1) | BSPED2012

The effect of homozygosity versus heterozygosity for IGFALS gene mutations on growth, bone strength and insulin resistance

Hogler Wolfgang , Martin David , Crabtree Nicola , Barrett Timothy , Frystyk Jan , Tomlinson Jeremy , Metherell Lou , Rosenfeld Ron , Hwa Vivian , Rose Stephen , Walker Joanna , Shaw Nick

Background: Acid-labile subunit (ALS) deficiency inhibits ternary complex formation leading to primary IGF1 deficiency and short stature. Potential metabolic consequences such as diabetes and low bone mass are not well studied.Objective: This study measured insulin sensitivity, lipid profile, bone density and structure in members of 4 affected families and explore possible gene-dose effects.Methods: Four patients (7–21 years) ...

ea0039oc5.6 | Oral Communications 5 | BSPED2015

Bone histomorphometry in patients with TMEM38B mutations suggests a novel patho-mechanism leading to increased bone fragility

Webb Emma , Balasubramanian Meena , Fratzl-Zelman N , Titheradge H , Cole Trevor , Stewart S , Crabtree Nicola , Cabral W B , Owens B , Roschger P , Klaushofer K , Marini J C , Shaw N , Hogler W

Background: TMEM38B is a ubiquitously expressed monovalent cation-specific channel protein hypothesized to play a role in intracellular calcium homeostasis. To date, only two unique recessively inherited exon deletions in TMEM38B have been reported in 17 individuals with osteogenesis imperfecta (OI). Data on bone histomorphometry and bone material property have not previously been presented.Cases: Targeted next generation sequencing was performe...