Searchable abstracts of presentations at key conferences in endocrinology

ea0091p28 | Poster Presentations | SFEEU2023

Mitochondrial DNA Depletion syndrome 1 (MNGIE type) – a rare cause of premature ovarian failure?

Matheou Michael , Tan Garry D , Karpe Fredrik , Brady Stefen , Kent Louisa , Javaid Kassim , Marshall Jonathan , Shears Deborah , Turner Helen E

Case history: A 39 year old lady was being investigated and managed for premature ovarian insufficiency (onset aged 29y) associated with an unusual constellation of symptoms. Following normal childhood and pubertal development, she subsequently developed fatigue, multiple gastrointestinal symptoms and was underweight with evidence of weight loss, and a most recent BMI of 17 kg/m2. She had previously been reviewed due to marked absence of subcutaneous fat in the lowe...

ea0028oc5.2 | Growth, tumours and pituitary | SFEBES2012

A network analysis of gene expression through childhood highlights changes related to age and growth

Stevens Adam , Whatmore Andrew , Clayton Peter

Objective: To assess age- and growth-dependent gene expression in children and correlate this with biological pathways.Methods: We conducted a gene expression meta-analysis on datasets from normal children curated from the NCBI Gene Expression Omnibus (GEO). Four datasets were combined to form a group of 87 individuals ranging from 0.2 to 29.3 years of age (average 7.7±6.9yr). Analysis of gene expression data was performed using hierarchical cluster...

ea0019p177 | Endocrine tumours and neoplasia | SFEBES2009

A metastatic neuroendocrine tumour: diagnositic and therapeutic dilemmas

Kennedy A , Piya M , Stevens M , Taheri S

Neuroendocrine tumours are slow growing and could be mistaken for other more malignant tumours with poorer prognosis. Their secretory profile may alter with time. The importance of awareness of these tumours and their clinical behaviour is illustrated by the case of a 78-year-old woman who presented with recurrent fasting hypoglycaemia.The patient had been diagnosed with metastatic pancreatic adenocarcinoma a year previously on the basis of radiographic ...

ea0007p20 | Cytokines and growth factors | BES2004

Glucocorticoids suppress macrophage migration inhibitory factor (MIF) expression in a cell-type specific manner

Alourfi Z , Donn R , Stevens A , Ray D

Aim: To investigate glucocorticoid (Gc) regulation of MIFBackground: MIF is a potent proinflammatory cytokine involved in inflammatory arthritis. Previous work suggested that MIF was induced by low concentrations of Gc, and may counteract their anti-inflammatory effect. The relationship between MIF and Gc has not been investigated in human cells.Methods: The human cell lines CEMC7A (T-lymphoblast) and A549 (lung epithelial) were us...

ea0007p232 | Thyroid | BES2004

Thyroxine replacement monitoring using a computerised register: the North Trent experience

Lee S , Stevens V , Parramore A , Weetman A , Allahabadia A

Background: Community based surveys have revealed that approximately 20% of patients taking thyroxine have low serum TSH concentrations. Likewise, a high proportion of patients (27%) have been found to have high TSH concentrations. Suboptimal thyroxine treatment, in particular overtreatment, is associated with significant potential health risks including atrial fibrillation and osteoporosis. In Sheffield, thyroxine treated patients are routinely enrolled on a computerised thyr...

ea0005oc16 | Cardiovascular Endocrinology | BES2003

Identification of novel glucocorticoid receptor isoforms in rat and human lung

Pan X , Stevens A , Davis J , Ray D

Glucocorticoid receptor (GR) splicing may influence glucocorticoid sensitivity. We aimed to identify GR isoforms in the lung by using immunohistochemistry, immunoblotting, co-immunoprecipitation western and RT-PCR approaches.The distribution of GR protein in rat lung was different when we used an N terminal antibody (M20) compared to a C terminal antibody (GRalpha). M20 detected diffuse expression in all cell types and higher expression in the epithelium. In contrast GRalp...

ea0059p093 | Diabetes & cardiovascular | SFEBES2018

Clinical characteristics of men and women attending a secondary care diabetic nephropathy service

Currie Gemma , Stevens Kathryn , Delles Christian , McKay Gerard

Background: Evidence suggests sex-specific differences in the development and progression of diabetic nephropathy (DN). Men and women have been shown to respond differently to certain therapies and epidemiological data suggest underuse of statins and renin-angiotensin system (RAS) blocking agents in women. We evaluated our local practice to identify differences in clinical characteristics and prescribing between men and women with DN.Methods: Clinical da...

ea0058oc4.2 | Oral Communications 4 | BSPED2018

Gene expression signatures in children with growth hormone deficiency (GHD) and Turner syndrome (TS) predict response to growth hormone

Clayton Peter , Stevens Adam , Murray Philip , Garner Terence

Background: Recombinant human growth hormone (r-hGH) is the primary therapeutic agent for disorders of growth including growth hormone deficiency (GHD) and Turner syndrome (TS). There is a high cost associated with treatment and existing methods to predict response (and hence alter management) can only account for 40–60% of the variance.Methods: GHD (n=71) and TS patients (n=43) were recruited as part of a study (PREDICT) on the lo...

ea0033p67 | (1) | BSPED2013

Effect of latitude, summer daylight exposure and genetic background on growth response to recombinant human GH in GH deficient patients

De Leonibus Chiara , Chatelain Pierre , Clayton Peter , Stevens Adam

Introduction: Growth rate tends to be greater in children living at higher latitudes although the underlying mechanisms are unclear. The aim of this study was to compare height velocity (HV) in response to recombinant human GH (r-hGH) therapy in children with GH deficiency (GHD) living at different latitudes.Design: Pre-pubertal children with GHD (n=118) were enrolled from the PREDICT long-term follow-up prospective study (NCT00699855). Data wer...

ea0025p205 | Growth and development | SFEBES2011

Identification of turner syndrome specific mRNA expression profiles that correlate with clinical response to growth hormone

Stevens Adam , Tajbakhsh Shahin , Whatmore Andrew , Westwood Melissa , Clayton Peter

Girls with Turner syndrome (TS) are treated with recombinant human growth hormone (rhGH) to improve their adult height but the gain is variable (0–20 cm). Current prediction models can account for only ~46% of the variability in the first year response to rhGH, thus genetic profiling has been suggested as a possible means of improving this prediction. The aim of this study was to explore mRNA expression profiles in an ex-vivo fibroblast model to characterise response to r...