Endocrine Abstracts

Children diagnosed with either Growth Hormone deficiency (GHD) or Turner syndrome (TS) are both treated with GH titrated against either weight or area. The response to such treatment however, is highly variable and, at least in part, diagnosis dependent. The precise mechanisms underlying this variability are unknown. As basal GH levels differ between GHD and TS and, as GH elicits its effects through changes in gene expression, the basal gene expression profiles of GHD and TS s...

Dissection or rupture of the aorta accounts for death in 2-8% of women with Turner Syndrome (TS), and dilatation of the aortic root, has been reported as a predisposing factor. We compared measures of arterial structure, stiffness and endothelial function to investigate whether women with TS have a fundamental arterial wall defect which extends beyond the arch of the aorta. Local Ethics Committee approval was obtained.Age-matched women with TS (n=93), 46...

Dissection or rupture of the aorta accounts for death in 2-8% of women with Turner Syndrome (TS), and dilatation of the aortic root, has been reported as a predisposing factor. We compared measures of arterial structure, stiffness and endothelial function to investigate whether women with TS have a fundamental arterial wall defect which extends beyond the arch of the aorta. Local Ethics Committee approval was obtained.Age-matched women with TS (n=93), 46...

Turner Syndrome (TS) is a genetic disorder which affects 0.5–1 in every 2000 females. It is a multi-systemic disease characterised by a deleted or partially missing X chromosome. This deletion results in a higher incidence of primary ovarian failure and removal of the cardio-protective presence of endogenous oestrogen. The aim of this study was to analyse the prevalence of cardiovascular risk factors in a TS cohort and to assess the steps taken to modify these risk factor...

Background: Hypertension is common in adults with Turner Syndrome (TS) but less is known about hypertension in children with TS.Aim: To determine the frequency of hypertension in a contemporary paediatric TS cohort and to assess its association with clinical characteristics.Patients and methods: Preliminary analysis of 22 girls with TS attending a designated TS clinic at RHC, Glasgow, with at least 2 blood pressure measurements in ...

IntroductionTurner syndrome(TS) is characterized by complete/partial monosomy or by a structural defect in one of X chromosomes. Despite clinical hallmarks of short stature(SS) and gonadal dysgenesis(GD), phenotype is variable and related to underlying chromosomal pattern. Loss of the distal segment of the short arm of x-chromosome(Xp-), including haploinsufficiency of short stature homeobox-containing (SHOX) gene, is thought to be the main factor for gr...

Case history: At 1 year follow-up post excision of invasive melanoma, a 63-year-old gentleman, with no other significant past medical history, was found to have CT evidence of metastatic disease. In the absence of a BRAF mutation, he was consented for combination immunotherapy with Ipilimumab (anti-CTLA4) and Nivolumab (anti-PD1). Monitoring bloods during cycle 2 of treatment revealed asymptomatic thyroiditis (TSH 0.03 miu/l, T4 35.5 pmol/l, T3 15.1 pmol/l), which did not requ...

The 5′ UTR of the glucocorticoid receptor plays a key role in determining tissue specific expression, and protein isoforms. Analysis of the 5′ UTR of the hGR has revealed 11 splice variants of the hGR exon 1, based on 7 exon 1 s, 4 of which (1-D to 1-F and 1-H) were previously unknown. All of the exon 1 variants have unique splice donor sites and share a common exon 2 splice acceptor site. Due to an upstream in-frame TGA stop codon the predicted translation from al...

Because the sodium iodide symporter, NIS, may be artificially expressed in cells to introduce ablative doses of radioactive iodide, it may be of clinical use. NIS is normally found in the basolateral membrane of thyrocytes and its expression and activity are known to be regulated by TSH. We have used primary cultures of human thyrocytes to examine other regulators of NIS activity. NIS activity was measured as uptake of 125I into cells in the presence of the thyroper...

Introduction: Short stature is the most common physical abnormality in Turner syndrome (TS), with adult stature averaging 20 cm shorter compared to the general population.Aim: To study the efficiency of early initiation for GH therapy on final stature for patients with Turner syndrome and to prove it’s important role in obtaining optimal growth rates.Methods: We studied a lot of 24 patients with TS diagnosed and followed up in...