Endocrine Abstracts

Hypophosphataemia is a common mineral metabolic abnormality affecting 2-3% of all hospital in patients and up to 34% of ICU patients. The causes are numerous. Over the last two decades following the identification of Fibroblast growth factor-23 (FGF-23) as the phosphaturic hormone responsible for Autosomal Dominant Hypophosphataemic Rickets (ADHR) in 2000 there has been an explosion in the understanding of phosphate homeostatic physiology and disorders of phosphate homeostasis...

Immune checkpoint inhibitors are a new group of monoclonal antibodies against checkpoints in normal T Lymphocyte activation enabling immune system activation in order to target cancer cells. First used for treatment of melanoma in 2011, they are currently indicated for management of an increasing spectrum of malignancy. Endocrinopathy secondary to checkpoint inhibitors is commonly observed. This has led to a new group of patients requiring specialist investigation, management,...

Acute hypocalcaemia can be a serious and potentially fatal medical emergency while chronic hypocalcaemia may be debilitating and is often associated with reduced quality of life. The usual aetiology of hypocalcaemia is hypoparathyroidism which is sufficiently rare to be officially recognised as an ‘orphan’ condition. Other causes of hypocalcaemia include vitamin D deficiency and hypomagnesaemia secondary to proton pump inhibitor therapy. The relative rarity of hypopa...

Outpatient theranostics began 30 years ago in Western Australia with world-first phase 1/11 clinical trials of Samarium-153-EDTMP for pain palliation of skeletal metastases prospective individualised dosimetry in each patient, based upon a calculated maximum radiation absorbed dose of 2Gy to haemopoietic marrow was performed by quantitative whole-body gamma imaging, to prescribe the safe effective administered therapeutic activity, which was then given on the same day as an ou...

Hypercalcaemia is a moderately common condition accounting for approximately 1% of all acute general medical presentations. Guidance on emergency management of the hypercalcaemic patient, aimed primarily at the generalist and at guiding initial stages of management has recently been developed by the society (https://www.endocrinology.org/policy/docs/13-02_EmergencyGuidance-Acute...

On a background of an increasing number of Nurse-Led Clinics and Endocrine Specialist nurses taking on many varying extended roles and responsibilities, 2015 has seen several important developments in the medicolegal aspects of practice.Nurse-led endocrine clinics often develop ad ho, and whilst there is very helpful guidance available (a Royal College of Nursing accredited Competency Framework developed by the Society for Endocrinology, and the new 2015...

Clinically non-functioning pituitary adenomas (NFA) are common anterior pituitary tumours, arising from a variety of pituitary cell types, but little is known of their pathogenesis. The vast majority of NFA are benign tumours; some of which may remain intrasellar, while others may exhibit expansive extrasellar growth and/or become invasive and infiltrate dura and bone. Pituitary carcinoma, defined as a tumour with subarachnoid, brain or systemic metastases is very rare. Determ...

Background: Girls and women with Turner Syndrome (TS) are commonly estrogen deficient, and may also be affected by conditions that have been suggested as increasing risk for severe infection with COVID.Objective: To determine the self-reported experience of COVID19 in girls/women with Turner syndromeDesign: Anonymous self-completed website survey (UK TSSS) and analysis of submitted dataPopulation: 49 people; ...

Case history: At 1 year follow-up post excision of invasive melanoma, a 63-year-old gentleman, with no other significant past medical history, was found to have CT evidence of metastatic disease. In the absence of a BRAF mutation, he was consented for combination immunotherapy with Ipilimumab (anti-CTLA4) and Nivolumab (anti-PD1). Monitoring bloods during cycle 2 of treatment revealed asymptomatic thyroiditis (TSH 0.03 miu/l, T4 35.5 pmol/l, T3 15.1 pmol/l), which did not requ...

The 5′ UTR of the glucocorticoid receptor plays a key role in determining tissue specific expression, and protein isoforms. Analysis of the 5′ UTR of the hGR has revealed 11 splice variants of the hGR exon 1, based on 7 exon 1 s, 4 of which (1-D to 1-F and 1-H) were previously unknown. All of the exon 1 variants have unique splice donor sites and share a common exon 2 splice acceptor site. Due to an upstream in-frame TGA stop codon the predicted translation from al...