Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2022

Harrogate, United Kingdom
14 Nov 2022 - 16 Nov 2022

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SfE BES is returning to Harrogate in 2022. Join with endocrine specialists from across the UK and beyond for the Society for Endocrinology's flagship meeting.

Oral Poster Presentations

Bone and Calcium

ea0086op5.1 | Bone and Calcium | SFEBES2022

3’ UTR structural elements are associated with CYP24A1-mediated abnormal calcium handling

Ball Nicole , Duncan Susan , Payet Rocky , Piec Isabelle , Tang Jonathan , Shoenmakers Inez , Lopez Berenice , Chipchase Allison , Ding Yiliang , Fraser William D , Green Darrell

Hypomorphic CYP24A1 protein coding mutations causing inappropriate 1,25(OH)2D concentrations are associated with idiopathic infantile hypercalcemia and adult-onset hypercalciuria and nephrolithiasis. It is unclear why some cases present with CYP24A1-mediated abnormal calcium handling lack protein-coding CYP24A1 mutations. Non-coding region mutations, e.g. the 3’ UTR, impacting messenger RNA (mRNA) structure have rarely been studied in...

ea0086op5.2 | Bone and Calcium | SFEBES2022

Hyperparathyroidism jaw tumour syndrome due to a novel familial CDC73 germline mutation

Alameri Majid , Behary Preeshila , Comninos Alexander N , Cox Jeremy

Introduction: Approximately 5-10% of PHPT cases are hereditary. One such hereditary cause of PHPT is Hyperparathyroidism-jaw Tumour Syndrome (HPT-JT) caused by an autosomal dominant mutation in cell division cycle 73 (CDC73) that impairs parafibromin, a protein with antiproliferative activity. HPT-JT is characterised by parathyroid tumours, ossifying jaw fibromas, renal tumours and uterine tumours. We report a familial case of HPT-JT caused by a novel CDC73 mutation.<...

ea0086op5.3 | Bone and Calcium | SFEBES2022

Lower bone mineral density is associated with primary hyperparathyroidism patients with abnormal vitamin D metabolite ratio (VMR): A case-control study

Tang Jonathan , Malik Mohammad , Turner Jeremy , Fraser William

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.<...

ea0086op5.4 | Bone and Calcium | SFEBES2022

Prospective clinical trial of a novel, reusable, pocket size Point of Care device to measure ionized calcium in venous and capillary blood and saliva

Rozalen Garcia Virginia , Abdel Aziz Tarek , Soromani Christina , Kurzawinski Tom

Background: Patients with hypoparathyroidism require frequent calcium measurements and currently there is no point of care device allowing this to be done at home by patients themselves. The aim of our study was to evaluate whether ionized calcium(iCa) can be accurately measured in venous and capillary blood and saliva by a repurposed device LAQUA.(R&D Ref 18/0058– IRAS 236079)Methods: Patients undergoing thyroid and parathyroid surgery underwen...