Endocrine Abstracts

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...

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...

Oncogenic ostemalacia is a rare paraneoplastic syndrome characterised by renal phosphate wasting secondary to secretion of FGF-23 from mesenchymal tumours. Localisation of the tumour is wanted, as resection can lead to complete clinical and biochemical cure. We present a case of a 57 year old woman with a background of Vitamin D deficiency and secondary hyperparathyroidism, who presented with severe generalised aches and pain, worst in her ribs and thighs, such that she could ...

Background: Multiple endocrine neoplasia type 2 (MEN2) is a group of pleomorphic syndromes which infer a susceptibility to several endocrine conditions. The RET Val804Met mutation is classified as a moderate-risk mutation for familial medullary thyroid cancer (MTC), without the other components of MEN2 syndromes. However, here we describe a rare case of a gentleman with RET p.V804M, presenting with primary hyperparathyroidism (PHPT) and no evidence of MTC.<p class="abstext...

Case: We report a 79-year-old female who was referred to our Endocrine Bone Unit with osteoporosis, which was initially treated with Alendronate (but poorly tolerated due to dyspepsia) followed by annual Zoledronate infusions. Her bone history was significant for a proximal humeral fragility fracture 30-years previously. She was an ex-smoker, had limited dietary calcium intake, and had a brother with osteoporosis. DEXA demonstrated T scores at lumbar spine -1.8, total hip -2.0...