Endocrine Abstracts

We present the case of a 32 year old woman presenting to her GP with right lower leg pain. This pain was worse at night, but responded to simple analgesia. She was initially diagnosed with arthritis but the leg pain worsened and became bilateral. She had no other significant past medical history with no history of fevers, trauma, fractures or dental problems. She had no relevant family, social or medication history.On examination, ...

A 46-year-old lady was referred to endocrinology with thyrotoxicosis. She was diagnosed with Graves’ disease by her GP in October 2016 when presenting with classical symptoms and investigations [TSH<0.01 mIU/L (NR 0.3–4.2), fT4=34.3 pmol/L (NR 9–23), TSHrAb>30 u/mL (NR<0.4), and increased iodine uptake]. She was therefore started on carbimazole 15 mg/day. She returned to her GP in December 2016 reporting resolved symptoms, however, she ...

We present the case of a 32 year old woman presenting to her GP with right lower leg pain. This pain was worse at night, but responded to simple analgesia. She was initially diagnosed with arthritis but the leg pain worsened and became bilateral. She had no other significant past medical history with no history of fevers, trauma, fractures or dental problems. She had no relevant family, social or medication history.On examination, ...

A 46-year-old lady was referred to endocrinology with thyrotoxicosis. She was diagnosed with Graves’ disease by her GP in October 2016 when presenting with classical symptoms and investigations [TSH<0.01 mIU/L (NR 0.3–4.2), fT4=34.3 pmol/L (NR 9–23), TSHrAb>30 u/mL (NR<0.4), and increased iodine uptake]. She was therefore started on carbimazole 15 mg/day. She returned to her GP in December 2016 reporting resolved symptoms, however, she ...

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...

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 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 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...