Searchable abstracts of presentations at key conferences in endocrinology

ea0048wh3 | Workshop H: Miscellaneous endocrine and metabolic disorders | SFEEU2017

Von Hippel–Lindau disease and pre-implantation genetic testing for in-vitro fertilisation

Goodchild Emily , Drake William

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...

ea0048cb5 | Additional Cases | SFEEU2017

Complex combinations of late effects

Goodchild Emily , Drake William

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...

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...

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...

ea0059ep83 | Neuroendocrinology and pituitary | SFEBES2018

A disappearing act in the pituitary fossa with recovery from panhypopituitarism

Goodchild Emily , Evanson Jane , Drake William , Glynn Nigel

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...

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 ...

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...


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...

ea0069oc1 | Oral Communications | SFENCC2020

Biochemical and clinical cure of primary aldosteronism by ultrasound-guided endoscopic radiofrequency ablation

Goodchild Emily , Wu Xilin , Ney Alexander , Argentesi Giulia , Salsbury Jackie , O'Toole Samuel , Chung Teng-teng , Cheow Heok , Drake William , Pereira Steve , Brown Morris

A 65-year-old Afro-Caribbean gentleman, with a >10-year history of hypertension, frequently recorded blood pressures of >160/80 mmHg. His serum electrolytes showed Na+ 145 mmol/l and K+ 3.2 mmol/l. MRI demonstrated 13 mm left medial-limb adrenal adenoma. His hypertension was uncontrolled on treatment with amlodipine 10 mg OD, spironolactone 50 mg OD, losartan100 mg OD and doxazosin 16 mg OD. Although his quality of life was reduced, and he dislike...

ea0077p10 | Adrenal and Cardiovascular | SFEBES2021

Method of venesection and location of peripheral sample alter adrenal venous sampling results and interpretation in primary aldosteronism

Mourougavelou Vishnou , Wu Xilin , Goodchild Emily , Argentesi Giulia , Laycock Kate , Akker Scott , Druce Maralyn , Sze Candy , Waterhouse Mona , Dawnay Anne , Matson Matthew , Brown Morris , Drake William , O’Toole Sam

Introduction: Adrenal venous sampling (AVS) is the criterion standard method of lateralisation in primary aldosteronism (PA). Despite this pivotal role, there is limited consensus and significant variability between centres related to many of the technical aspects of AVS. In this study, we sought to address whether variations in two different technical aspects of AVS altered parameters and interpretation, namely: 1. Peripheral sample site 2. Method of adrenal vein (AV) venesec...