Endocrine Abstracts

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...

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.<...

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.<...

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...