Endocrine Abstracts

Primary Aldosteronism (PA), due to a unilateral aldosterone-producing adenoma of the adrenal (APA), is the commonest curable cause of Hypertension, but the prospects for cure fall with age. APAs rarely increase in size, suggesting an origin much earlier than the development of resistant hypertension. Most APAs have gain-of-function somatic mutations which result in increased Ca2+ entry, and constitutive activation of aldosterone production. Women with larger APAs, a...

Primary Aldosteronism (PA), due to a unilateral aldosterone-producing adenoma of the adrenal (APA), is the commonest curable cause of Hypertension, but the prospects for cure fall with age. APAs rarely increase in size, suggesting an origin much earlier than the development of resistant hypertension. Most APAs have gain-of-function somatic mutations which result in increased Ca2+ entry, and constitutive activation of aldosterone production. Women with larger APAs, a...

Case history: A 46-year-old headmaster with a 10-year history of hypertension presented with a BP of 164/116 mmHg on four antihypertensive drugs. He had occasional headaches, chest ‘aches’, and described one syncopal episode after an ‘exhausting rowing session’. A low plasma renin (routinely measured in our resistant hypertensives) and 26/20 mmHg fall in BP on changing hydrochlorothiazide to amiloride, led to investigations for primary aldosteronism (PA).</...

Primary Hyperaldosteronism (PA) is caused by adrenal tumours or bilateral adrenal hyperplasia (Djajadiningrat-Laanen et al., 2011) causing constitutive aldosterone production. Both germline and somatic mutations have been identified in human PA (Scholl, 2022). The commonest somatic mutations in benign tumours causing PA in humans include KCNJ5, CACNA1D, ATP1A1 and ATP2B3 (Williams et al., 2015). It is hypothesized that analogous somatic mutations arise in fel...

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...

Case history: A 26 year-old lady was admitted from clinic with severe hypertension and bilateral papilloedema. Six weeks prior to admission she had undergone resection of a massive right upper quadrant lesion that was felt to be of hepatic origin. Histological analysis of the lesion revealed it to be an adrenal phaeochromocytoma and she was thus referred to the endocrine service. Pre-operative biochemical assessment had not been performed but there was no evidence of any blood...

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...

Primary hyperaldosteronism usually results from an aldosterone-secreting adenoma of the adrenal cortex (Conn’s adenoma) or bilateral adrenal hyperplasia. Identification of the anatomical adrenal lesion causing hyperaldosteronism typically involves CT or MR scanning, with lateralisation of aldosterone production confirmed by adrenal vein sampling (AVS). The latter is a technically difficult and invasive procedure, but current non-invasive alternatives (e.g. radiolabelled i...

Case history: A 26 year-old lady was admitted directly from the endocrine clinic with severe hypertension (BP 180/130 mmHg) and bilateral papilloedema. Six weeks prior to admission she had undergone resection of a 24 cm right upper quadrant lesion that was pre-operatively felt to be of hepatic origin. She was normotensive pre-operatively. Histology confirmed this to be an adrenal phaeochromocytoma with deficient SDH immunostaining. Pre-operative biochemical assessment had not ...

Case History: In 2011, an asymptomatic 63-year-old professor was found to have isolated hypokalemia. He was normotensive and his only past medical history was hypercholesterolaemia. Investigations were suggestive of Primary Hyperaldosteronism (PHA): aldosterone 1055 pmol/L, renin mass 10 mU/L, Na+137 mmol/L, K+3.2 mmol/L, bicarbonate 31 mmol/L. A CT scan was reported as normal, but a 12mm nodule was subsequently noted contiguous with the left adrenal. A m...