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 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...

Case history: A 74-year-old gentleman with primary aldosteronism (PA) was referred for the ‘MATCH’ study – a prospective comparison of 11C-metomidate PET CT with adrenal vein sampling. He took no exogenous steroids.Investigations: Na 147 mmol/l, K 3.7 mmol/l, aldosterone 496 pmol/l, renin activity <0.17 nmol/l per h, random cortisol 247 nmol/l and concomitant ACTH 9.3 ng/l. Two overnight dexamethasone suppression tests recorded values ...

Objective: We reported 3 patients with primary aldosteronism who presented at times of high plasma LH, and had somatic CTNNB1 mutations causing ˜100-fold elevation of LHCGR in their APAs (Teo et al. NEJM 2015). Subsequently we identified 4 further patients, but the association with pregnancy was not found by others. Whole exome sequencing (WES) of an APA diagnosed at onset of puberty suggests an explanation.Method: WES of tumour and blood w...

Primary aldosteronism (PA) is the cause of 5–10% of hypertension, surgically curable in patients with unilateral aldosterone-producing adenomas (APAs). However <1% of patients are currently diagnosed and cured. Newer and simpler modalities of diagnosis and treatment are required. The aim of FABULAS (a feasibility study of endoscopic ultrasound-guided ablation as a non-surgical, adrenal sparing treatment for aldosterone-producing adenomas) is to determine in 30 patient...

A 54-year-old man presented to the heart attack centre with cardiac chest pain, vomiting and collapse. Biochemistry (troponin incremented from 117 to 315ng/l) and electrocardiogram confirmed a diagnosis of non-ST elevation myocardial infarction (NSTEMI). Past medical history included type 2 diabetes mellitus and hypertension (diagnosed 8 years previously), hypercholesterolaemia and a 20 pack year smoking history. Secondary prevention for MI was commenced and coronary angiograp...