Endocrine Abstracts

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor expressed in the parathyroid gland and kidneys. Loss of function mutations of the CaSR result in familial hypocalciuric hypercalcaemia (FHH). Rarer, gain of function mutations of the CaSR result in hypercalciuric hypocalcaemia and are inherited in an autosomal dominant pattern. The phenotype varies from asymptomatic individuals, to profound hypocalcaemia. We present a severely affected individual whose case hi...

Case history: A 72 year old gentleman from Zimbabwe presented to clinic with MRI pituitary findings of 1.5×1.4×1 cm pituitary macroadenoma. This had been discovered incidentally during outpatient investigation for severe headaches refractory to standard analgesia at another hospital. The mass was in contact with but not compressing the optic chiasm. He did not describe any visual loss. He had an unintentional weight loss of 10 kg in the last 2 months. He described de...

Urine free cortisol (UFC) is analysed in 24 h urine collections in suspected Cushing’s syndrome, and provides an integrated measure of cortisol secretion over the whole day. The aim of this audit was to review how clinically useful UFC results were, and whether this analytical service was still justified. The current automated immunoassay with manual sample preparation was time-consuming, expensive (disproportionate quality control / external quality assessment (EQA) samp...

Case history: A 59 year old Afro-Carribbean male with a 25 year history of cardiac enlargement and hypertension, on multiple anti-hypertensives, presented with increasing breathlessness and several years of markedly reduced exercise tolerance. He was intolerant of spironolactone and eplerenone. His past medical history included hypertersion, obstructive sleep apnoea, Steven-Johnson syndrome secondary to allopurinol, thyrotoxicosis treated with radio-active iodine, monoclonal g...

A 60 year old gentleman with a history of renal stones presented 5 years ago with left sided flank pain. A CT of his renal tract showed an unexpected metastatic deposit in the left iliac crest. Cross-sectional whole body imaging, performed to locate the primary, also identified an expansile soft tissue mass in the T8 vertebral body and a predominantly cystic looking left sided thyroid nodule. He proceeded to have an iliac crest biopsy which was consistent with metastatic folli...

A 69-year-old retired pharmacist was referred to our endocrine clinic with an incidental finding of hypokalaemia noted during recent spinal fusion surgery. He has been hypertensive for 6 years. His blood pressure was well controlled on Diltiazem 240 mg and Doxazosin 4 mg, but required 8 tablets of SandoK daily to maintain normokalaemia. His past medical history includes type 2 diabetes, diabetic retinopathy, chronic kidney disease, hypercholesterolaemia and benign prostatic hy...

A 53 year old gentleman from Ghana was referred to our clinic for further management of his Conn’s syndrome. This had been diagnosed at another hospital 3 years previously when he presented with hypertension and hypokalaemia on the back of 14 years of poorly controlled hypertension. Serum aldosterone was raised at 3178 pmol/l and serum renin mass was 3.9 mU/l. MRI revealed a 5 mm nodule in the medial limb of the right adrenal gland. He was initially commenced on medical t...

A 65 year-old male was evaluated at another hospital for frequent episodes of fainting preceded by sweating, palpitations fatigue and hunger over several years. There was no personal or family history of diabetes mellitus. Hypoglycaemia was confirmed on a supervised fast and, guided by some equivocal uptake on a dotatate scan, he underwent a distal pancreatectomy, but the symptoms persisted. He was referred to our centre. He reported relentless weight gain and a need to eat po...

Background: Aldosterone producing cell clusters (APCCs) are microscopic pockets of cells in the adrenal zona glomerulosa (ZG), which stain densely for aldosterone synthase (CYP11B2). They exist in 30% of normal adrenal glands and have similar somatic genetic mutations as some aldosterone producing adenomas (APA), especially of CACNA1D. Some APCCs are precursors to APAs. Adrenalectomy for primary aldosteronism (PA) cures hypertension in < 50% of patients, maybe bec...

The amount of radioactivity given to patients undergoing ablation for remnant tissue in thyroid cancer at our centre has been greatly reduced to 1100 MBq I-131 in recent years, prompting a review of practice. An extensive risk assessment, focusing particularly on radiation exposure to the public during the patient’s commute home was conducted and found patients could now be discharged safely on the day of treatment. Owing to these findings and audit showing 86% of patient...