Searchable abstracts of presentations at key conferences in endocrinology

ea0055wa2 | Workshop A: Disorders of the hypothalamus and pituitary (I) | SFEEU2018

A complex case of diabetes insidipus in a patient with septo-optic dysplasia

Wu Xilin , Drake William

An 18 year old gentleman was first reviewed in our endocrine adolescent transition clinic. He had been under the care of the paediatricians since birth, where he initially presented with developmental delay. This triggered investigations which led to the diagnosis of septo-optic dysplasia. At aged 12 he developed cranial diabetes insipidus (DI) and secondary hypothyroidism. This was managed with intranasal DDAVP (20 ug BD) and thyroxine 125 μg. Due to an abnormal thirst t...

ea0044cc2 | Featured Clinical Cases | SFEBES2016

More than just Diabetes Insipidus

Wu Xilin , Choo-Kang Alan

A 54-year-old gentleman presented with increased urinary frequency, urgency and nocturia. His GP treated him for benign prostatic hypertrophy with tamsulosin. When this failed to alleviate his symptoms he was referred to urology. Investigations revealed he was drinking in excess of 6 litres of fluid per day, hence he was referred to endocrinology.Aside from a 6-month history of polyuria and polydipsia, there was no history of previous head injury, headac...

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).</...

ea0094p320 | Adrenal and Cardiovascular | SFEBES2023

An audit of the use of plasma renin measurements to guide mineralocorticoid therapy in primary aldosteronism

Jacob Anu , Wu Xilin , Drake William

Introduction: Primary aldosteronism (PA) accounts for 5-10% of patients with hypertension. Approximately 40-50% of cases are bilateral, usually managed using mineralocorticoid receptor antagonists (MRAs). Recent literature suggests a higher risk of renovascular disease and cardiovascular events in PA patients treated medically, compared to those with essential hypertension. This excess risk is mitigated in individuals with unilateral disease managed surgically...

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...

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 ...


Double somatic mutations of CTNNB1 and GNA11 in aldosterone producing adenomas (APAs) presenting in puberty, pregnancy or menopause

Zhou Junhua , Storr Helen , Cottrell Emily , Cabrera Claudia , Argentesi Giulia , Wu Xilin , Goodchild Emily , Azizan Elena , Brown Morris J

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...

ea0065p12 | Adrenal and Cardiovascular | SFEBES2019

Endoscopic ultrasound-guided radiofrequency ablation (EUS-RFA) as an alternative to left sided adrenalectomy in the treatment of primary aldosteronism

Wu Xilin , Ney Alexander , Cheow Heok , Goodchild Emily , Argentesi Giulia , Chung Teng-Teng , Drake William , Pereira Stephen , Brown Morris

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...

ea0091oc1 | Oral Communications | SFEEU2023

‘Pseudo-failure’ of adrenal vein sampling due to cortisol co-secretion by KCNJ5-mutant adenoma, and prediction of complete clinical success by urine hybrid steroid assay

Laycock Kate , Wu Xilin , Goodchild Emily , Matson Matthew , Prete Alessandro , Taylor Angela , Arlt Wiebke , McIntosh Alasdair , McConnachie Alexander , Cheow Heok , Drake William , Brown Morris

Case history: A previously well 45-year-old lady presented with a 3-year history of hypertension initially diagnosed at a routine health check. Her blood pressure (BP) was 170-180/90-100 mmHg.Investigations: Showed hypokalaemia (K+= 3 mmol/l; NR 3.5-5.3 mmol/l), raised aldosterone (976pmol/l; NR 100-500pmol/l) and supressed renin activity (<0.2nmol/l/h), meeting criteria for diagnosing primary aldosteronism (PA). CT adrenals showed a 2.5 cm left adre...