Searchable abstracts of presentations at key conferences in endocrinology

ea0025p222 | Pituitary | SFEBES2011

Has you appearance changed over the last few years? Oh I’m really ugly now!

Eligar Vinay Somashekar , Dacruz Thomas , Thind Munveer , Rao Srinivas , Williams Meurig , Rice Samuel

Forty two year Mrs SJ, community support worker with a background history of hypothyroidism was referred by her GP with excessive tiredness and weight gain. She had been attending her surgery for few months with somatic symptoms and her GP had noticed significant change in facial characteristics and large hands. She complained of increase in her feet size from a size 6 to a 9. No disturbance of vision was reported.She was noted to have hyperglycaemia and...

ea0025p339 | Thyroid | SFEBES2011

Thyroid hormone receptor alpha is a permissive factor that regulates osteoclastogenesis indirectly

Nicholls Jonathan J , Combs Charlotte E , Williams Graham R , Bassett J H Duncan

Thyrotoxicosis is characterised by increased osteoclast activity. Thyroid hormone receptor alpha (TRα) is the predominant TR-isoform in bone and mice lacking TRα have skeletal hypothyroidism with impaired osteoclastic bone resorption. By contrast, mice lacking TRβ have skeletal hyperthyroidism and increased bone resorption. Thus, we hypothesized that T3 acts via TRα to stimulate osteoclastogenesis. Osteoclasts were differentiated in vitro ...

ea0023oc5.3 | Oral Communications 5 | BSPED2009

Young persons' weight management service: a service users' evaluation

Williams Marc , Kendall Debbie , Gleeson Helena , Amin Rakesh , Banerjee Indi , Patel Leena , Clayton Peter , Hall Catherine

Background: Obese young people are likely to suffer significant morbidity in adult life. Successful intervention during adolescence may have far-reaching benefits. Evidence is emerging that patient-responsive clinical services may deliver improved outcomes.Aims: To assess the perceptions of obese young people about weight and weight-management services.Method: Annonymised, postal questionnaire survey of 116 obese young people (9&#1...

ea0023p28 | (1) | BSPED2009

46 XY girls – the importance of careful newborn examination

Sharp Tim , Fraser Nia , Shenoy Manoj , Randell Tabitha , Denvir Louise , Williams Alun

Introduction: Disorders of sexual differentiation (DSD) are uncommon and pose many challenges to families affected and clinicians. The genotypic 46XY male with female phenotype form an interesting group with diverse presentation. We studied all such children attending our multidisciplinary DSD clinic. Only in a minority of these children did newborn examination raise the possibility of DSD. Delays in identifying these abnormalities can cause significant psychological difficult...

ea0021oc4.2 | Bone and parathyroid | SFEBES2009

Intra-cellular availability of T3 in chondrocytes is essential for normal skeletal development and adult bone mass

Bernstein Nicholas , Archanco Marta , Swinhoe Rowan , Lu Yan , Hernandez Rebecca , Bassett Duncan , Williams Graham

The type 3 deiodinase enzyme (D3) inactivates T3 and prevents activation of T4 to protect the fetus from premature exposure to thyroid hormones. Rapidly falling levels of D3 activity and rising levels of T3 at birth initiate the onset of cell differentiation and organ maturation during the post-natal period. Congenital hypothyroidism causes delayed ossification with reduced bone mineral deposition and short stature. We hypothesize that increase...

ea0021oc4.6 | Bone and parathyroid | SFEBES2009

Impaired osteoblast function in mice lacking the T3-responsive calcineurin inhibitor RCAN2

Bassett Duncan , Boyde Alan , Howell Peter , Sun Xiao-Yang , Xu Sai , Murata Yoshiharu , Williams Graham

Similar to thyroid hormones, the calcineurin/NFAT pathway regulates bone mass via its actions in osteoblasts and by indirect effects on osteoclast function. Calcineurin is a calcium- and calmodulin-activated phosphatase that dephosphorylates the transcription factor NFAT enabling its translocation to the nucleus. RCAN2 is an inhibitor of calcineurin that is stimulated by T3 in brain, heart and skeletal muscle although its expression in bone has not been studied. Thu...

ea0021p219 | Endocrine tumours and neoplasia | SFEBES2009

MEN2B patients with a RET A883F mutation have less aggressive MTC than those with the common RET M918T mutation

Worth Gabriella , Palazzo Fausto , Tolley Neil , Robinson Stephen , Cox Jeremy , Williams Graham , Bassett Duncan

MEN2B is the most aggressive form of MEN2. Consequently, the new American Thyroid Association guidelines recommend prophylactic thyroidectomy early in the first year of life. Ninety-seven percentage of MEN2B cases result from a germline methionine to threonine mutation at codon 918 (M918T) of the RET proto-oncogene. In addition, an exceedingly rare alanine to phenylalanine mutation at codon 883 (A883F) has been reported in 4 unrelated adults. In each case metastatic MTC and th...

ea0021p345 | Steroids | SFEBES2009

Dexamethasone testing and visceral:subcutaneous fat ratios in patients with adrenal incidentalomas

Debono Miguel , Hughes Tim , Durrington Charlotte , Williams Scott , Newell-Price John

Background: The Endocrine Society clinical practice guidelines suggest use of the 1 mg overnight dexamethasone suppression test (ONDST) to screen for cortisol excess in patients with adrenal incidentalomas, followed by the 48-h, 2 mg/day, low-dose dexamethasone-suppression test (LDDST), to confirm a positive result. Visceral fat accumulates in cortisol-excess and accounts for increased cardiovascular risk. In this study, we investigate whether the LDDST offers additional infor...

ea0015oc39 | Thyroid | SFEBES2008

HIF-1α is a common downstream target of PI3K and MAPK/ERK signalling in thyroid carcinomas

Williams Kaye , Cowen Rachel , von Wasielewski Reinhard , Uenalan Murat , Resch Julia , West Catharine , Brabant Georg

Context: HIF-1α is frequently upregulated in many tumour types and has been shown to be critical for radio- and chemosensitivity in pre-clinical studies. However the regulation and function of HIF-1α is unknown in thyroid carcinomas.Objectives: Here, we evaluated basal expression and regulation of HIF-1α and target genes in primary thyroid carcinomas and in thyroid cancer cell lines (NPA, FTC-133, ARO).Design and out...

ea0015p136 | Diabetes, metabolism and cardiovascular | SFEBES2008

The influence of birth weight on glucocorticoid receptor (GCR) expression in skeletal muscle of neonatal pigs

Williams Paula , Litten Jenny , Corson Anne , Clarke Lynne , Symonds Michael , Mostyn Alison

Background: Size at birth has been shown to have important consequences on later health, including the development of the metabolic syndrome. Tissue sensitivity to cortisol is regulated, in part, by the GCR and alterations in GCR expression have been observed in obesity and type 2 diabetes.Objectives: To examine whether birth weight influences the expression of GCR mRNA in skeletal muscle (SM) at days 7 and 14 of postnatal life.Met...