Endocrine Abstracts

Due to the non-specificity of symptoms in male neonates affected by salt-wasting (SW) CAH, it is hypothesised that a proportion die prior to diagnosis in countries lacking a newborn screening (NBS) programme, such as the UK. The aim of this study was to analyse 17-hydroxyprogesterone (17-OHP) in stored NBS blood spot samples, to detect undiagnosed cases of CAH. Samples were retrieved from storage for neonates who were born between 1994 and 2006, who subsequently died before 7 ...

Topical glucocorticoid therapy causes adverse effects in human skin including a reduction in dermal fibroblast proliferation and extracellular matrix protein secretion (e.g. collagen 1) and epidermal thinning – effects paralleled in photoexposed and elderly skin. These cause reduced wound healing rates and a loss of elasticity with increased fragility and transepidermal water loss – signs also typical of Cushing’s syndrome characterised by raised circulating cor...

Endothelial dysfunction is thought to be a major cause of vascular complications in diabetes. Our research shows that obestatin, a 23-aminoacid amidated peptide recently identified as a product of the ghrelin gene, inhibited high glucose-induced apoptosis in cultured bovine aortic endothelial cells (BAEC). Exposure to high glucose concentration (30 mM) for 72 h caused a significant increase in apoptosis, as evaluated by Hoechst staining, but co-treatment of rat obestatin (from...

49,XXXXY syndrome is a rare defect of sex chromosomes frequently labelled as Klinefelter variant. It is associated with more severe dysmorphic features, hypogenitalism and mental retardation.The goal: To describe clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY karyotype.Report of the patient: 12-month-old boy referred because of underdeveloped genitalia. The patient was born by ca...

Follicle-stimulating hormone (FSH) is essential for primate reproduction, acting via the FSH-receptor (FSHR) which is expressed in Sertoli and granulosa cells only. Despite its highly specific expression pattern, knowledge of the FSHR promoter and transcriptional regulation is still very limited. To gain insights into the regulatory elements controlling FSHR expression we characterized the core promoter activity of all important primate lineages including human. We isolated DN...

Exon 1 of AR gene contains a variable number of CAG triplets, which encode a polyglutamine stretch of variable length in the N-terminal domain of the receptor. Experimental evidence has accumulated in demonstrating that the length of this stretch influences AR transcriptional activity and therefore modulates target organs responsiveness to androgens. Aim of our study was to evaluate CAG repeats length [(CAGr)n] in various conditions hypothetically influenced by AR function. 35...

Introduction:There is a great need for targeted and tailored treatment strategies in anaplastic thyroid cancer patients.The current conventional treatment strategies consisting of surgery,chemo- or radiotherapy have a palliative effect leading to short survival periods.The failure of tumor cells to undergo apoptosis may cause resistance to chemoradiological therapies due to overexpression of antiapoptotic oncogenes and transcriptionally repressed apoptotic tumour suppressor ge...

Introduction:Anaplastic thyroid carcinoma has a very poor prognosis because it is a highly aggressive and extremely lethal human cancer with poor therapeutic responses due to intrinsic resistance to chemotherapy.One of the reasons is DNA methylation which causes silencing of tumour suppressor genes (TSGs).To improve the prognosis of patients with anaplastic thyroid Ca,a better understanding of the molecular changes involved in its pathogenesis is essential.<p class="abstex...

Introduction: Regulation of HER2 through the transcription factor PEA3 is associated with tumour progression and resistance to endocrine treatment in human breast cancer. The mechanism of this resistance remains unclear. Activation of estrogen receptor co-activator proteins via the MAP-kinase pathway is thought to be central to tamoxifen insensitivity. We hypothesised that activation of HER2 by PEA3 may result in activation of co-activator proteins such as AIB1 (amplified-in-b...

A 33 year old male was referred with poorly controlled hypertension. He gave no other past medical or family history. Despite therapy with multiple agents blood pressure was poorly controlled at 200/130 mm/Hg. Initial investigations which included renal ultrasound, magnetic resonance angiography and urine catecholamine excretion were all negative. Plasma renin concentration was suppressed (1 mu/ml/L, normal range 5 to 50) and plasma aldosterone was raised at 650 pmol/L (normal...