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.<...

Case History: A 30 year old woman presented with the history of swollen painful eyes for 4 weeks while visiting Italy. She had a background of Hashimoto’s Thyroiditis since 2010 and was treated with levothyroxine 100 mcg once daily. She was given a course of oral steroids for 2 weeks and her thyroxine dose was reduced to 25 mcg once daily in Italy. Since then, her orbital swelling began to improve. She was a non-smoker. On examination, she was noted to have bilateral mild...

Alemtuzumab, a humanized anti-CD52 monoclonal antibody is effective in treating multiple sclerosis. However, it has been associated with thyroid disorder in up to 30–40% patients. While Graves’ disease is the most common disorder (70%), thyroiditis has been reported up to 4.9% cases.Case 1: 34 year old woman with the background of multiple sclerosis and autoimmune hypothyroidism (on levothyroxine 50 mcg OD) was given Alemtuzumab infusion in Jul...

Hypopituitarism secondary to pituitary apoplexy is a rare but recognised complication following cardiac surgery but not cardiac arrest.We present a case report of acute pituitary apoplexy following a cardiac arrest on a background of sepsis. A 65-year-old gentleman presented with 3-day history of abdominal pain and vomiting. Of note, he underwent an appendicectomy 2 months earlier. He was septic and investigations revealed bowel perforation with faecal p...

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...

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 ...

Introduction: Obesity-associated psychopathological co-morbidities have a negative impact on quality of life. Roux-en-Y gastric bypass surgery (RYGB) has been shown to ameliorate psychological health, however, the underlying mechanisms are not fully understood. Changes in gastrointestinal and central neuroendocrine signalling have been postulated as mediators of psychological and eating behaviour changes following RYGB. Here we assess the impact of subcutaneous infusions of th...

A 61-year-old lady presented with rapid onset of lethargy and reduced mobility with inability to use stairs over 1 month. Prior to this, she was fit and well and was a lifelong non-smoker. At presentation, she was overweight and had evidence of skin bruising and severe proximal myopathy of her legs. A midnight cortisol was >1710 nmol/l with a corresponding ACTH of 610 nmol/l confirming ACTH dependent Cushing’s syndrome. Serum potassium was 2.6 mmol/l and a new diagnos...