Endocrine Abstracts

Paget’s disease of bone (PDB) is the second commonest bone disease. The original disease description in 1876 by Sir James Paget remains an incisive, accurate report of the pathophysiology of PDB, which is characterised by focal regions of increased bone remodelling with initial excessive bone resorption and osteolytic lesions followed by long term increased bone formation and sclerosis. The majority of patients are elderly, many are asymptomatic. Those that are referred t...

Asfotase alfa (AA, STRENSIQ, Alexion Pharmaceuticals, Inc.) is the first FDA-Approved treatment for patients with hypophosphatasia, the result of a mutation in the tissue-nonspecific alkaline phosphatase (ALPL) gene. Because it contains the ALP active site, AA is able to catalyse the substrate as the antibody-conjugated ALP would within an assay. Therefore, AA present in a patient’s sample may generate a false positive or a false negative result. We investigated ...

One of the most significant health measures implemented during the COVID-19 pandemic has been extended periods of lockdown. Vitamin D is essential for many biological functions including pregnancy and bone health and modulate the immune system. Many studies also suggested a beneficial effect of replenished stores of vitamin D (25(OH)D >50 nmol/l) against severe and long term COVID-19 and self-supplementation is recommended by the government. Here we report on the vitamin D...

Background: Teriparatide PTH(1-34) is an osteoanabolic agent used in the treatment of osteoporosis. Measurement of PTH(1-34) can be useful in osteoporosis treatment and in the diagnosis of pseudohypoparathyroidism (PHP) by confirming administration of PTH(1-34)Aims: 1) To assess PTH(1-34) profiles obtained using standard Forsteo treatment compared to using a novel oral administration. 2) To confirm the PTH(1-34) in a PHP patient re...

Background: Teriparatide PTH(1-34) is an osteoanabolic agent used in the treatment of osteoporosis. Measurement of PTH(1-34) can be useful in osteoporosis treatment and in the diagnosis of pseudohypoparathyroidism (PHP) by confirming administration of PTH(1-34)Aims: 1) To assess PTH(1-34) profiles obtained using standard Forsteo treatment compared to using a novel oral administration. 2) To confirm the PTH(1-34) in a PHP patient re...

Introduction: The role of vitamin D and calcium metabolism has long been implicated in the clinical manifestation of primary hyperparathyroidism (PHPT). The skeletal response to the overproduction of PTH is less predictable, and the effect on bone loss can be greater in some patients. In this study, we established associations between vitamin D metabolism, vitamin D metabolite ratio (VMR) 1,25OH2D:24,25OH2D with rates of bone loss in PHPT patients who did not undergo surgery.<...

Aldosterone synthesis is heritable; a single nucleotide polymorphism (SNP) in the promoter of the aldosterone synthase gene (position −344, rs1799998) has been associated with an increased plasma aldosterone levels and hypertension. However, deletion of this site has no effect on gene transcription in vitro and therefore the mechanism that links genotype with phenotype is unclear.We identified a polymorphism at position −1651 T/C (rs13...

Introduction: Adult Growth Hormone Deficiency (AGHD) is associated with osteoporosis. Underlying mechanisms involved in the pathogenesis include reduced target-organ sensitivity to the effect of PTH. Growth Hormone Replacement (GHR) in AGHD leads to increased PTH target-organ sensitivity and consequently increased bone turnover and bone mineral density (BMD).Aims: We determined the effect of alendronate, given in addition to GHR, on PTH target-organ sens...

Fibroblast growth factor 23 (FGF-23) is a phosphatonin produced by osteocytes in response to serum phosphate concentration. Immunoassays are widely employed to detect C-terminal fragments of FGF-23 (cFGF-23). Quantitative assays for intact FGF-23 (iFGF-23) measurement are also available. Causes of increased FGF-23 include Tumour Induced Osteomalacia (TIO), X-linked hypophosphataemic rickets (XLH) and end stage renal disease (ESRD). We observed that some individuals, with no id...

Individuals with chronic hypoparathyroidism sometimes receive suboptimal care with high frequency of unplanned hospitalisation and iatrogenic harm. In 2015 the European Society for Endocrinology published evidence base consensus guidelines on the management of chronic hypoparathyroidism. Using these consensus recommendations as audit standards we worked with the Society for Endocrinology and Parathyroid UK to conduct a national audit of management of chronic hypoparathyroidism...