Endocrine Abstracts

Case history: Von Hippel–Lindau disease (VHL) was confirmed in this 36 year old gentleman when he was 13. His father’s diagnosis of metastatic renal cell carcinoma (RCC) and paragangliomas prompted genetic testing and revealed mutation c.499C>T p. (Arg167Trp) which is associated with type 2B VHL in this patient and his sister. Shortly after diagnosis, bilateral phaeochromocytomas were resected with a bilateral adrenalectomy. At age 17, the patient developed tinni...

Case history: This 32 year old lady developed anterior and posterior pituitary failure following chemotherapy, radiotherapy and bone marrow transplant for acute lymphoblastic leukaeamia in childhood and subsequent CNS recurrence. During her teens, she required GH replacement with which she was poorly compliant. She had a mastectomy and currently takes hormonal treatment for oestrogen receptor positive T2N1M1 breast cancer, which is possibly a consequence of her total body irra...

Case history: An 85-year-old man with primary hyperparathyroidism, resistant to cinacalcet, presented to hospital with paranoid delusions, weakness, constipation and thirst. His past medical history was of vitamin D deficiency and arthritis of the spine. Regular medications were lansoprazole, senna, and fluticasone nasal spray. He was a never-smoker and had no relevant family history. Neck examination was unremarkable.Investigations: Corrected serum calc...

A 56-year-old man of Ghanian descent was referred to the endocrine clinic with a 16-year history of drug resistant hypertension. His past medical history was of hypertrophic cardiomyopathy, chronic kidney disease, and horseshoe kidney. He is one of seven hypertensive siblings, two of whom died of complications of hypertension. An incidental finding of bilateral adrenal nodules was noted on abdominal computed tomography. Plasma aldosterone concentration (PAC) was 1020 pmol/l, p...

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...

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...

A 36-year-old, previously healthy, man presented with several weeks’ history of gradually worsening headache. He attended A&E after he was woken by sudden worsening of the headache, associated with vomiting and pre-syncopal symptoms. Investigations revealed severe hyponatraemia - serum Na 109 mmol/L. He was also severely hypocortisolaemic – serum cortisol (random) 16 nmol/L, ACTH 19 ng/L. Cranial imaging revealed a 17 mm suprasellar, complex cystic pituitary lesi...

A previously fit and well 29-year-old male presented with an 8-month history of progressive facial and peripheral swelling, accompanied by generalised weakness, weight gain, nocturia and a 2 year history of left-sided abdominal pain. He was originally from Ghana and moved to the UK in 2022 with limited family support. On examination he was hypertensive (157/108 mmHg) with facial fullness, dry skin, proximal muscle weakness, conjunctival injection and haematomata at recent vene...

Case History: A 57-year-old lady was referred with a 6-year history of hypertension and hypokalaemia necessitating hospital admission. Her medical background included breast cancer managed with chemotherapy, radiotherapy and surgery. She required Eplerenone 50 mg OD and Amlodipine 5 mg to control her hypertension, and Sando-K 2 tablets TDS to maintain normokalaemia. The patient was enrolled into the MATCH trial comparing adrenal vein sampling (AVS) with [11C]-metomi...

Case history: A 39-year-old gentleman was referred to the Endocrine clinic with a 5-year history of hypertension and intermittent hypokalaemia. He had been seen in the hypertension clinic, screened for secondary causes, and found to have an aldosterone of 604 pmol/l, renin <0.2 nmol/l/hr and potassium 3.7 mmo/l (off interfering medication), in-keeping with a diagnosis of Primary Aldosteronism (PA). His blood pressure was 126/82 mmHg on Ramipril 10 mg, Amlodipine 5 mg OD an...