Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2023

Glasgow, UK
13 Nov 2023 - 15 Nov 2023

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SfE BES is the UK's leading endocrinology meeting. It will return to Glasgow in 2023.

Oral Communications

Bone and Calcium

ea0094oc1.1 | Bone and Calcium | SFEBES2023

Vitamin D metabolites are associated with overuse musculoskeletal and bone stress injury in young adults

Carswell Alexander , O'Leary Thomas , Swinton Paul , Jackson Sarah , Tang Jonathan , Oliver Samuel , Izard Rachel , Walsh Neil , Fraser William , Greeves Julie

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...

ea0094oc1.2 | Bone and Calcium | SFEBES2023

A large in-frame deletion of the calcium-sensing receptor extracellular domain causes familial hypocalciuric hypercalcaemia type 1 (FHH1) and is partially responsive to cinacalcet

Kooblall Kreepa , Hannan Fadil , van Waes Charlotte , Stevenson Mark , Lines Kate , Evans David , Moorwood Catherine , Owens Martina , Tuthill Antoinette , Thakker Rajesh

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...

ea0094oc1.3 | Bone and Calcium | SFEBES2023

The role of glucocorticoid metabolism in the skeletal pathophysiology of chronic kidney disease

Shanker Arjan , Cassidy Ben , Crastin Ana , Poologasundarampillai Gowsihan , Hardy Rowan , Harper Lorraine , Jones Simon W. , Sagmeister Michael

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...

ea0094oc1.4 | Bone and Calcium | SFEBES2023

Mendelian randomisation and colocalization analyses reveal novel drug targets for the prevention of kidney stone disease by modulating serum calcium and phosphate concentrations

Lovegrove Catherine , Hannan Fadil , Mahajan Anubha , Thakker Rajesh , Holmes Michael , Furniss Dominic , Howles Sarah

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...

ea0094oc1.5 | Bone and Calcium | SFEBES2023

CTNNB1 pathogenic variants can cause an autosomal dominant osteoporosis-pseudoglioma-like syndrome: a new form of osteogenesis imperfecta?

Lazarus Syndia , Nicolas Boyer Pierre , Duncan Emma

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...

ea0094oc1.6 | Bone and Calcium | SFEBES2023

Management of Vitamin D deficiency in primary hyperparathyroidism: a systematic literature review and meta-analysis

Akhtar Hassan

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....