Endocrine Abstracts

Objective: The diagnosis of subclinical Cushing’s syndrome in patients with incidentalomas is not always straight forward and a number of different criteria have been used. The 1 mg overnight dexamethasone suppression test has been recommended as a screening test, followed up by other tests of the hypothalomo–pituitary–adrenal axis to confirm the diagnosis. In this study we investigate whether the low-dose dexamethasone suppression test offers additional informa...

A systematic survey of low S-cortisol levels at the department of clinical chemistry: indications for testing and frequency of undiagnosed adrenal insufficiency.Background: S-cortisol is frequently analyzed at clinical chemistry departments. Low levels of S-cortisol needs to be promptly acted on if the cause is undiagnosed adrenal insufficiency (AI). The causes of S-cortisol testing are however multiple and low levels are necessarily not alarming if foun...

IntroductionEvidence suggests that adults with growth hormone deficiency (AGHD) exhibit metabolic abnormalities that are typical of the metabolic syndrome and are risk factors for type 2 diabetes (T2D). Concerns about undesirable effects of growth hormone replacement therapy (GHRT) on glucose metabolism have been raised, but the risk of T2D from AGHD has mixed evidence. This analysis aims to evaluate cardiovascular (CV) and metabolic safety of GHRT in th...

The adrenal gland displays an important role in integrating neuronal, immune, vascular, metabolic and endocrine signals under a common organ capsule. The adrenal is the central organ of the stress response system, responsible for responses to acute and chronic stress stimuli and, thereby, playing a major role in numerous stress-related disorders. While for other diseases translational scientists developed programs to generate healthy cells to regenerate damaged tissues in pati...

Case History: We report the case of a 59-year-old lady with a persistently elevated serum thyroglobulin following a total thyroidectomy for multifocal papillary thyroid carcinoma. She subsequently underwent radioiodine therapy following which her serum thyroglobulin remained elevated. However, it was later found to be almost undetectable at 0.3 μg/l after a change in laboratory method. This discrepancy prompted further investigation, and repeat analysis using the original assa...

Background: Patient Safety Noticed issued by Welsh Government in June 2021 set out multiple action plans to be implemented by Welsh health boards to improve recognition and management of adrenal crisis. Hospitals were advised to review policies to ensure all patients at risk of Adrenal Crisis [(primary/secondary/tertiary adrenal insufficiency (AI)] were identified.Aim: In response, our hospital commenced a quality improv...

Background: X-linked hypophosphataemia (XLH) is a genetic condition that causes significant skeletal deformities and is associated with lifelong disability and pain. In October 2018, the NHS in England recommended burosumab, an anti-FGF23 antibody, for treating XLH with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. The clinical and cost effectiveness of burosumab for treating adults with XLH is ...

Background: Over the last two decades, type 2 diabetes mellitus (T2DM) has increasingly been recognized as a fracture risk factor, despite the occurrence of normal to even increased bone mineral density (BMD) (1). The dual energy X-ray absorptiometry (DXA) derived trabecular bone score (TBS) is considered to be a proxy of bone quality and has been reported to be diminished in diabetic patients (2) and insulin resistant, non-diabetic postmenopausal women (3).</...

Mutations in each of the 4 subunits of succinate dehydrogenase (SDH) – SDHA, B, C and D predispose to development of phaeochromocytomas and paragangliomas. Loss of SDH function leads to accumulation of succinate which acts as an oncometabolite to drive tumourigenesis. However, mutations in SDHB have an increased likelihood of causing metastatic disease, compared to mutations in the other SDH subunits. The reasons behind this increased risk remai...

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...