Searchable abstracts of presentations at key conferences in endocrinology

ea0044s4.3 | Advances in the genetic understanding of endocrine disease | SFEBES2016

Somatic mutations and adrenal remodelling in hyperaldosteronism

Brown Morris

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...

ea0038s2.1 | Zoning in on adrenal tumours | SFEBES2015

Somatic mutations and adrenal remodelling in hyperaldosteronism

Brown Morris

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...

ea0055oc2 | National Clinical Cases | SFEEU2018

Episodic primary aldosteronism associated with a novel gain-of-function mutation in a cell adhesion molecule

Wu Xilin , Garg Sumedha , Brown Morris

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).</...

ea0055we6 | Workshop E: Disorders of the adrenal gland | SFEEU2018

From hyper- to hypoaldosteronism: a rare but important complication to recognise post adrenalectomy

Wu Xilin , Goodchild Emily , Brown Morris , Drake William

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...

ea0055we7 | Workshop E: Disorders of the adrenal gland | SFEEU2018

A hypertensive emergency post massive phaeochromocytoma resection: catecholamines not to blame

O'Toole Sam , Rathore Ali , Brown Morris , Akker Scott

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...

ea0065oc5.6 | Adrenal and Cardiovascular | SFEBES2019

SLC35F1, a potential marker for aldosterone producing cell clusters

Goodchild Emily , Linton Kenneth , Drake William , Brown Morris

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...

ea0021oc2.3 | Neuroendocrine tumours/pituitary | SFEBES2009

11C-Metomidate positron emission tomography (PET) scanning for Conn's syndrome

Burton Timothy , Annamalai Anand , Bird Nick , Gurnell Mark , Brown Morris

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...

ea0062oc7 | Oral Communications | EU2019

An aldosterone crisis

Tufton Nicola , Rathore Ali , Matson Matthew , Hameeduddin Ayesha , Berney Daniel , Brown Morris , Akker Scott

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 ...

ea0062p29 | Poster Presentations | EU2019

Normotensive primary hyperaldosteronism as a prelude to atrial fibrillation: potentially curable by endoscopic radiofrequency ablation?

Wu Xilin , Ney Alexander , Cheow Heok , Drake William , Pereira Stephen P , Brown Morris

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...

ea0055p14 | Poster Presentations | SFEEU2018

Low ACTH and cortisol production following adrenalectomy for primary aldosteronism

Goodchild Emily , Wu Xilin , Salsbury Jackie , Kurzawinski Tom , Matson Matthew , Cheow Heok , Chung Teng Teng , Drake William , Brown Morris

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 ...