Endocrine Abstracts

Gram negative bacterial meningitis with consequent meningeal inflammation is a major cause of death and morbidity worldwide. Meningitis denotes infection of the blood brain barrier (BBB) including the choroid plexus (CP), the site of secretion of cerebrospinal fluid (CSF). We propose that 1α 25-dihydroxyvitamin D3 (1α25-(OH)2D3), an important immunomodulator, may suppress CP inflammation thereby reducing morbidity. We aimed to assess ...

Ocular and orbital tissues are extremely susceptible to damage by immune-mediated inflammatory conditions, such as thyroid-associated-ophthalmopathy (TAO). Recent studies have implicated fibroblasts in the development of chronic inflammation. Once activated by inflammatory cytokines, fibroblasts secrete pro-inflammatory cytokines perpetuating the inflammatory process, causing significant tissue damage. Synovial fibroblasts have been reported to regulate inflammation by increas...

Therapeutic glucocorticoids are used in rheumatoid arthritis (RA) to reduce inflammation and bone destruction. We recently reported that primary synovial fibroblasts generate active glucocorticoids via expression of 11beta-hydroxysteroid dehydrogenase type 1 (11β-HSD1). This enzyme activates cortisol from inactive cortisone (and prednisolone from prednisone) and this activity is up-regulated by inflammation. We have now examined glucocorticoid metabolism in synovial tissu...

In humans, glucocorticoids (GC) are implicated in the pathogenesis of obesity and insulin resistance. In adipose tissue, GCs are regulated at the prereceptor level by oxo-reductase activity of 11beta-hydroxysteroid dehydrogenases type 1 (11β-HSD1). The hexose-6-phosphate dehydrogenase null mouse (H6PDH/KO) has shown that H6PDH is required for generating NADPH within the endoplasmic reticulum which determines the direction of 11β-HSD1 enzyme. We have shown that mRNA f...

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene. Major disease components include mucocutaneous candidiasis, hypoparathyroidism and Addison’s disease. Acquired hypoparathyroidism (AH) occurs in 80% of APS1 patients and is associated with hypocalcaemia, hyperphosphataemia and low serum levels of parathyroid hormone (PTH). Reports suggest that these clinical symptoms are initiated by...

Introduction: Mutations of the LMNA gene cause a wide range of diseases including lipodystrophy, myopathy [including dilated cardiomyopathy (DCM)], neuropathy and progeroid syndrome, and are collectively known as A-type laminopathies.Case report: A 51-year-old Caucasian male with history of heart, liver and kidney transplants was referred for evaluation and treatment of post-transplant diabetes. He was diagnosed with hypertriglyceridemia at age 38. At 43...

Introduction: Women with turner syndrome (TS) have an increased risk of aortic dissection at young age. Bicuspid aortic valve (BAV) and aortic dilatation, both associated with TS, are risk factors. Preliminary studies suggested that cardiac MR (CMR) perfoms better than transthoracic echocardiography (TTE) for evaluating BAV and aortic dilatation, probably related to the frequent chest abnormalities in TS.Aim: To evaluate the ability and comparability of ...

Introduction: In the UK, most adult patients with growth hormone deficiency (GHD) continue with growth hormone (GH) treatment indefinitely, even when they do not report any benefits from treatment. To date, the optimal duration of GH treatment in adults has not been established. We conducted a survey of UK endocrine clinicians between 01/06/2022 and 31/08/2022 to understand current practices regarding GH treatment discontinuation in adults with GHD.<p clas...

Objectives: Fracture risk is increased in individuals with diabetes mellitus, but how this is related to bone mineral density (BMD), adiposity, inflammation, disease duration and diabetic complications is less well understood. We aimed to investigate associations between type 1 (T1DM) and type 2 (T2DM) diabetes and incident fracture in a large population study.Methods: UK Biobank is a population study incorporating indiv...

Introduction: DSD includes variations in the development of chromosomal, gonadal, or anatomical sex and can be subdivided into (XY DSD, XX DSD, and sex chromosomal DSD). Most presentations occur in the neonatal period with atypical genitalia or discordant phenotype and antenatal genotype, but later presentations occur raising complex diagnostic and clinical management issues.Objective: To characterise the etiological, cl...