Endocrine Abstracts

We investigated the association between vitamin D metabolites and incidence of lower body (pelvis and lower limb) overuse musculoskeletal and bone stress injury in 1637 men and 530 women (22.6 ± 7.5 years), undergoing 12 weeks initial military training. We measured serum 25-hydroxyvitamin D (25(OH)D) and 24,25-dihydroxyvitamin D (24,25(OH)2D) by high-performance liquid chromatography tandem mass spectrometry, and 1,25-dihydroxyvitamin D (1,25(OH)2D) by...

Familial hypocalciuric hypercalcaemia type 1 (FHH1) is mainly caused by loss-of-function missense mutations of the extracellular calcium-sensing receptor (CaSR), which is a parathyroid- and kidney-expressed G-protein coupled receptor that plays a pivotal role in mineral metabolism. Here, we report the unusual occurrence of a novel heterozygous in-frame CASR exon 4 deletion, c.(492+1_493-1)_(1377+1_1378-1)del, in a family with FHH1. This mutation is predicted...

Background: Osteoporosis is a common feature of chronic kidney disease (CKD), associated with premature mortality. Glucocorticoids (GCs) are steroid hormones, that in excess, can drive the suppression of bone formation. We have shown that the glucocorticoid (GC) activating enzyme 11beta-hydroxysteroid dehydrogenase type 1 (11β-HSD1) is dysregulated in CKD, where it may contribute to the suppression of bone formation. We utilised a murine model of CKD with...

Kidney stone disease (KSD) is a recurrent condition with limited prophylactic therapies. This study aimed to use Mendelian randomisation (MR) and colocalization analyses to identify novel drug targets for KSD. Utilising UK Biobank genome-wide association study data for MR, we identified forty-nine 1Mbp regions where genetic loci increase risk of KSD via effects on albumin-adjusted serum calcium or phosphate concentrations. Multi-trait statistical colocalization analyses identi...

A 27-year-old woman with familial exudative vitreoretinopathy (FEVR) experienced multiple childhood fractures, including wrist (aged 7y), hip (aged 10y) and numerous vertebrae. She had low bone mineral density (BMD) (Z scores < -2.5 at multiple sites aged 9; persistently low BMD as an adult) and was short (height below 1st centile). Other features included an unusual facies and mild intellectual impairment. Her mother also had FEVR, dental hypoplasia, mild intellectual imp...

Objective: Vitamin D deficiency is frequently encountered in patients with primary hyperparathyroidism (PHPT), a condition characterised by excessive parathyroid hormone (PTH) secretion and hypercalcemia. This systematic literature review and meta-analysis aimed to assess the management of vitamin D deficiency in PHPT by evaluating vitamin D supplementation regimens and their impact on vitamin D and PTH levels and calcium levels....