Endocrine Abstracts

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 ...

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...

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...

A 35 year old lady presented with a one week history of back pain, myalgia, fatigue, epigastric pain, and persistent vomiting. She reported a four week history of reduced appetite and 4 kg weight loss. She had recently recovered from an uncomplicated COVID-19 infection. Past medical history included a previous eating disorder (anorexia and bulimia), and subsequent chronic gastritis. Drug history included Omeprazole 20 mg daily, Laxido 2 sachets daily and antacids (Rennies 4-8 ...

A 27-year old Caucasian woman was referred to the Endocrine Bone Clinic after investigations for general malaise revealed hypercalaemia and elevated parathyroid hormone levels. She had no history of constipation, abdominal pain, bone pain, or other related symptoms. She had no history of renal stones or fractures and no change in weight. Her past medical history included asthma and she took a salbutamol inhaler as required. She had no family history of endocrine pathology. Gen...

Case: We report a 63-year-old woman who was referred to our Endocrine Bone Unit with difficult to control hypoparathyroidism. Sixteen-years previously, she underwent a total thyroidectomy with radioiodine ablation for multifocal papillary thyroid carcinoma with lymph node involvement. However, surgery was complicated by permanent postsurgical hypoparathyroidism, requiring regular calcium supplementation and active vitamin D (Alfacalcidol 1.25 mg). Over the 10-years prior to re...

A 33 year-old man was referred to the endocrine bone clinic following presentation with a 4 mm kidney stone and hypercalcaemia. Apart from mild fatigue, he had no other hypercalcaemic or concerning symptoms. He was not on any medications or supplements. He had a positive family history for kidney stones and reported that his grandmother had been noted to have hypercalcaemia in the past. There was significant consanguinity in his family. Examination was entirely normal while bl...

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...