Endocrine Abstracts

Cannabinoids are known to exert effects throughout the endocrine system, including in the anterior pituitary. Whilst cannabinoid receptors (CB1 in particular) are expressed in numerous tissues, expression and function of an endocannabinoid system within specific anterior cell types has not been investigated. We have used well-characterised gonadotroph (LβT2 and αT3-1) and somatolactotroph (GH3) cell lines to establish the expression and functional role for cannabinoi...

Aim: In chronic kidney disease (CKD) elevated aldosterone (Aldo) levels are a poor prognostic indicator, particularly in the context of a high dietary sodium intake, through unclear mechanisms. Blockade of the mineralocorticoid receptor (MR) improves surrogate patient outcomes. We hypothesised that regulation of aldosterone biosynthesis is disordered in CKD and aimed to compare this in a cohort of patients with CKD with subjects with essential hypertension (EH).<p class="a...

Background: Increased childhood cancer survival has resulted in an accruing adult cohort faced with potential infertility. Pre-treatment semen cryopreservation can protect reproductive capacity in adolescent minors, but continued unique legal, ethical and educational barriers prevent consistent service provision across the UK. The effect of pubertal maturation, disease and treatment on the ability to produce sperm also remains poorly defined in this cohort. We present our 10-y...

In humans Growth Hormone Receptor (GHR) transcripts exist in two isoforms, the full-length (GHRfl) or exon 3 deletion isoform (GHRd3). Individuals with the GHRd3 isoform are associated with an increased response to recombinant human GH. The d3/fl-GHR polymorphism does not influence adult height. However, an association with the d3/fl-GHR polymorphism has been found with antenatal growth especially in small for gestational age (SGA) infants. H...

A 68-year-old female was found to have a supra sellar mass on CT scanning for investigation of long-standing tremor. She had experienced thirst, polydipsia, polyuria, nocturia and malaise for 1 year. Primary hypothyroidism had been diagnosed 5 years earlier. A left temporal visual field defect found 3 years earlier had been attributed to a structural anomaly of the optic nerve head. MR scanning confirmed the presence of a mass lesion of the infundibulum with displacement of th...

Introduction: Polycystic ovary syndrome (PCOS) is the most common endocrine abnormality in women with an estimated prevalence of 6–8%. Women with PCOS have a known increased prevalence of prediabetes (30–40%), type 2 diabetes (T2DM 10%), and metabolic syndrome (40%). We determined the prevalence of recorded PCOS through a structured primary care based T2DM screening programme.Methodology: Eligibility criterion for a structured and systematic sc...

The CYP11B1 and CYP11B2 genes encode 11β-hydroxylase and aldosterone synthase, which catalyse the production of cortisol and aldosterone, respectively, and have been implicated in the development of hypertension. For this study, we wished to investigate the role of microRNAs (miRNAs), a novel class of post-transcriptional gene regulators. To that end, we generated a profile of human adrenal miRNAs to study, and then investigated the action of one adrenal miR...

Background: The CYP11B1 (11β-hydroxylase) and CYP11B2 (aldosterone synthase) genes are found in close proximity on human chromosome 8 and are highly polymorphic, enabling the definition of two common haplotypes. Haplotype1 includes the -344T and the Intron2 conversion polymorphisms in CYP11B2 and also the -1889T, -1859G polymorphisms in the regulatory region of CYP11B1. We and others have shown that these associate with increased aldosterone pr...

Aldosterone synthase (CYP11B2) and 11beta-hydroxylase (CYP11B1) genes are highly homologous in their coding regions (95%), lie in tandem approximately 40kb apart in human chromosome 8, and may have arisen from gene duplication. The pattern of linkage disequilibrium (LD) of this region in a population is determined not only by the distribution of recombination events but also by demographic factors determining the amount of random genetic drift. There is suggestiv...

The glucocorticoid receptor (GR) is a member of the nuclear hormone receptor superfamily that acts as a hormone responsive transcription factor. GR function is controlled by hormone binding, post-translational modifications and through interaction with cofactors. Here, we report that JNK dependent phosphorylation of GR affects its sumoylation. JNK activation by UV radiation that targets GR for phosphorylation at serine 246 (S246) facilitated subsequent GR sumoylation at lysine...