Endocrine Abstracts

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.<...

We present the case of a 35-year-old woman who was well until pregnancy 4y previously in Israel. Her antenatal course was uncomplicated. She breastfed postpartum and a few months into this she experienced acute back pain on reaching for a nappy. MRI demonstrated six vertebral fractures. DEXA scan confirmed osteoporosis (lumbar T-score −4.3, hip T-score −3.3). She received a single dose of denosumab. She moved to the UK 2y later and was referred to our Endocrine Bon...

Hyponatraemia is the commonest electrolyte abnormality observed in clinical practise. It is a potential cause of substantial morbidity and mortality. Drug history, fluid volume status in addition to serum and urine biochemistry is essential for optimal management.We report a case of a 50-year-old female with known psychosis admitted to the Mental Health Unit and treated with Citalopram, Mirtazepine, Risperidone, Clonazepam and Procyclidine. Admission pla...

Background: Mutation in the CYP24A1 gene can have variable phenotypes including infantile hypercalcemia and adult-onset hypercalcemia, hypercalciuria, nephrocalcinosis, or nephrolithiasis. CYP24A1 gene mutation is a rare but important cause of PTH-independent hypercalcemia.Case Presentation: We describe a case of a 67-year-old gentleman who presented with lethargy, fatigue and weight loss. He was found to have PTH-indepe...

A 58 year-old man presented with backache and was found to have T10-T12 vertebral fractures on spinal-MRI. He was diagnosed with osteoporosis on a DEXA-scan (lumbar-spine T-score-2.6) and was treated with Alendronate and Cholecalciferol at a neighboring hospital. He was referred to the endocrine bone-clinic for a second opinion regarding his osteoporosis. He had a history of multiple small bone fractures and Brucellosis that required a 2-month bed-rest. His family history incl...

We report a 64-year old female with a background of T2DM, renal transplantation requiring ongoing glucocorticoids, and treated toxic multinodular goitre. Following a traumatic T11 fracture and significant osteoporosis risk factors (female, postmenopausal, T2DM, glucocorticoid-use, sarcoidosis, and previous thyrotoxicosis), she was started on bisphosphonate therapy in 2012 with good concordance. Bone densitometry at the time demonstrated lumbar T...

A 68-year-old woman presented with a several month history of nausea, confusion and generalised weakness. In addition, she reported decreased appetite with significant weight loss. She did not report any convulsions, abdominal pain, palpitations, or diarrhoea. Significant past medical history included well-controlled T2DM, hypertension, vitamin D deficiency and GI reflux disease. Importantly, she had no history of renal disease. Relevant medications incl...

We present a case of a 56 year-old man diagnosed with systemic mastocytosis by the dermatologists on presentation with classical skin lesions, confirmatory bone marrow biopsy and a tryptase level 105 ug/L (NR 2-14). Further genetic testing confirmed KIT D816V mutation. DEXA bone densitometry at diagnosis revealed marked osteoporosis (Lumbar T score -3.7 (Z -3.5), Femoral Neck T score of -2.0 (Z -1.1). He had no history of low trauma fracture and no relev...

We report a 64-year old female with a background of T2DM, renal transplantation requiring ongoing glucocorticoids, and treated toxic multinodular goitre. Following a traumatic T11 fracture and significant osteoporosis risk factors (female, postmenopausal, T2DM, glucocorticoid-use, sarcoidosis, and previous thyrotoxicosis), she was started on bisphosphonate therapy in 2012 with good concordance. Bone densitometry at the time demonstrated lumbar T...

A 68-year-old woman presented with a several month history of nausea, confusion and generalised weakness. In addition, she reported decreased appetite with significant weight loss. She did not report any convulsions, abdominal pain, palpitations, or diarrhoea. Significant past medical history included well-controlled T2DM, hypertension, vitamin D deficiency and GI reflux disease. Importantly, she had no history of renal disease. Relevant medications incl...