Endocrine Abstracts

70-year-old male patient was referred by GP on account of low blood pressure and falling platelet levels. He reported persistent shortness of breath, lethargy and reduced exercise tolerance alongwith 2 stones weight loss with poor appetite in the last 4 months. He has a background history of corneal transplant and was on immunosuppressant therapy including mycophenolate mofetil which was tapered and then stopped few weeks ago when his GP first noticed the low platelet count. H...

Introduction: Pseudo-hypoparathyroidism (PHP) is a rare endocrine disorder characterized by resistance to parathyroid hormone (PTH). We present a case of a 33-year-old, focusing on the clinical presentation, diagnostic, and management strategies, with particular attention to skeletal manifestations and tissue calcifications.Case Description: The patient presented to the hospital with severe symptomatic hypocalcaemia. Ini...

Background: Familial hypocalciuric hypercalcaemia (FHH) is a rare benign autosomal dominant condition which causes life-long mild to moderate hypercalcaemia. It is usually underdiagnosed due to lack of symptoms in majority of patients and low rate of screening even among endocrinologists. Recent NHS England National Genomic Directory testing criteria for FHH recommend testing patients presenting with hypercalcaemia and calcium creatinine clearance ratio (CCCR)...

Introduction: Primary hyperparathyroidism may be sporadic or occur as part of a genetic predisposition. Inactivation of CDC73 tumour suppressor gene can cause hyperparathyroidism-jaw tumour (HPT-IJ) syndrome, parathyroid carcinoma or familial isolated hyperparathyroidism (FIHP).Case details: We report a 26 year old gentleman, previously fit and well who was found to have hypercalcemia on a routine testing. Renal ultrasou...

Objective: To evaluate the efficacy of medical management of hyperparathyroidism and evaluate the financial and healthcare impact of delay in surgical intervention within a district general hospital. To assess the duration of use of cinacalcet prescriptions, compare wait times for surgery and assess the service needs.Method: We retrospectively evaluated all patients with primary hyperparathyroidism who received cinacalce...

As per NICE guideline, referral for parathyroidectomy need to be according the below, • symptoms of hypercalcaemia or • End-organ disease (renal stones, fragility fractures or osteoporosis) or • An albumin-adjusted serum calcium level of 2.85 mmol/litre or above.Methods: We conducted a retrospective analysis of investigations done as per recommendation of NICE guidelines for patients who underwent Parathyroidectomy under t...

Introduction: Hypercalcemia has wide spectrum of diagnosis. Hyperthyroidism is known cause of parathyroid hormone independent cause of hypercalcemia. Increased osteoclast activity with excess bone resorption is underlying cause. Thyrotoxicosis associated hypercalcemia is usually asymptomatic, mild to moderate hypercalcemia is seen in 20% of patients, but severe hypercalcemia is rare. We report a case of young male who presented with abdominal pain, vomiting se...

Steroid cell tumours are very rare ovarian sex cord tumours that account for only < 0.1% of ovarian tumours. We present an interesting case of a steroid cell tumour in a 17 year old girl referred with worsening hirsutism, weight gain of nearly 3 stones and oligomenorrhea over 2 years. Menarche with regular menstrual cycles was attained at the age of 13 followed by normal reproductive development. On examination, she had an elevated BMI of 33.7 and there was marked hirsutis...

GD is a common thyroid disorder which in majority of cases respond to medical treatment with thionamides.A proportion of these patients will need definitive treatment with either radioiodine ablation or total thyroidectomy. We present a case of a 21 yr old woman with a year history of overt thyrotoxic symptoms. She lost 2 stones of weight, had palpitations, heat intolerance and noticed shaky hands. On examination:She had large symmetrical goitre with bruit, tachycardic and swe...

Case: A 61 year old female, presented to ENT in July ’17 with 6 month history of left sided neck swelling, gradually increasing in size over the last 1 month prior to presentation. She complained of tenderness over the swelling and pain and discomfort around her left shoulder. She denied any problems with her voice, breathing or swallowing. Her past medical history consisted of recurrent UTI’s, renal stones and medullary sponge kidney. She smokes 15 cigarettes per da...