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...

ea0091p14 | Poster Presentations | SFEEU2023

Hypercalcaemia and delusions of blood poisoning: a parathyroid adenoma refractory to ultrasound-guided ethanol ablation

Conti Alessandro , Anderson John , Goodchild Emily

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...

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 ...


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...

ea0094p175 | Adrenal and Cardiovascular | SFEBES2023

Laparoscopic adrenalectomy for phaeochromocytoma in the context of acute coronary syndrome

Soruna Omolayo , Plowman Christina , Yu Thinn , Pittaway James , Goodchild Emily , Wragg Andrew , Fitchat Tracey , Parvanta Laila , Akker Scott

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...