Endocrine Abstracts

Triple A syndrome is is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenocorticotropin-resistant adrenal insufficiency and a variable and progressive neurological phenotype. The AAAS gene encodes a 60kD WD-repeat nuclear pore protein named ALADIN (alacrima, achalasia, adrenal insufficiency neurologic disorder); its function and tissue distribution are unknown. In this study we performed in situ hybridization with 35S end-labelled AAAS mRNA oligon...

11BHSD1 is a NADP-dependant, bi-directional enzyme which inter-converts the glucocorticoid cortisol with its inactive metabolite cortisone. Follicular fluid (FF) from large antral ovarian follicles contains hydrophilic and hydrophobic compounds which stimulate and inhibit 11BHSD1 enzyme activities, respectively. The objective of this study was to assess whether levels of these enzyme modulators change in FF during development of porcine follicles. Pooled samples of FF, aspirat...

In human GL cells, 11beta-HSD catalyses the interconversion of cortisol (F) with its inert 11-ketosteroid metabolite, cortisone (E). Since GL cells synthesise prostaglandins (PGs), and PGs have been shown to modulate the expression and activity of the cloned 11beta-HSD enzymes, the objective of the present study was to establish whether locally synthesised PGs affected the net oxidation of F to E by 11beta-HSD in human GL cells recovered from the ovaries of women undergoing co...

Introduction: Diabetes teams need to keep electronic data records for supporting participation in the National Paediatric Diabetes Audit (NPDA), and other governance activities. NPDA benchmarks diabetes services against each other, and services are keen to make sure their data is accurate so that it gives a good reflection of their service. Twinkle is a specialised database that is widely used for this purpose.Twinkle allows units to produce specific rep...

Adrenal crisis is a life-threatening complication in patients with adrenal insufficiency. In order to prevent critical situations, patients are supposed to increase their glucocorticoid dose in distressing situations. If dose adjustment is not sufficient, sooner or later patients will fall into a coma, followed by death. While health condition worsens patients usually call paramedics, followed by a decision for primary therapy and transportation to the nearest hospital. We ass...

Glucocorticoids (Gcs) act via the intracellular glucocorticoid receptor (GR) to regulate cellular homeostasis. GR is a ligand-activated transcription factor which mediates effects within the nucleus or cytoplasm to regulate genomic or non-genomic events. Localisation of the GR to a specific cellular compartment is therefore an important determinant of the cellular response to Gcs.Live cell imaging of GR trafficking in cells transfected with fluorophore-t...

Adrenal crisis is a life-threatening complication in patients with adrenal insufficiency. In order to prevent critical situations, patients have to increase their glucocorticoid dose in distressing situations. Continuous education of patients concerning dosage adaption in challenging situations seems to be important for long term management. As previously shown, both acute illness and emotional stress may lead to critical situations. In every outpatient visit patients should b...

Hypoparathyroidism is a rare disease characterized by a deficiency in parathyroid hormone (PTH) that results in hypocalcemia and hyperphosphatemia. Current treatment approaches, including high dose oral calcium and active vitamin D, as well as recombinant human PTH (1–84), do not provide adequate or consistent control of either serum calcium or clinical symptoms over a full 24-hour period. AZP-3601 is a novel 36 amino-acid PTH analog that has been designed to potently bi...

PARADIGHM™ is a global registry (NCT01922440) of patients diagnosed with hypoparathyroidism (HPT) ≥6 months regardless of aetiology and management. Routine medical care data were entered using electronic case report forms; the 36-item Short Form Health Survey was completed by patients. Baseline-recorded data are reported for 492 patients enrolled as of 1 December 2016 from 41 centres. At baseline, 78% were women, mean (S.D.) age was 49 (17)...

Vitamin D is a pleotropic hormone with important actions in a wide variety of cell types. Whilst its role in the endocrine control of calcium metabolism via the active circulating metabolite 1,25- dihydroxy cholecalciferol is widely appreciated, other actions in a range of cells and tissues depend on activation of circulating 25-hydroxy vitamin D by intracrine mechanisms and paracrine actions which may be locally controlled. Of particular interest are the roles of vitamin D pe...