Searchable abstracts of presentations at key conferences in endocrinology

ea0059cmw2.2 | Workshop 2: Endocrine emergencies | SFEBES2018

A phaeochromocytoma crisis

Casey Ruth T

A phaeochromocytoma is a catecholamine secreting tumour arising from the adrenal medulla and a paraganglioma refers to its extra adrenal counterpart, which can develop from sympathetic or parasympathetic tissue anywhere from the skull base to the pelvis. Presenting symptoms of these rare tumours are most commonly related to catecholamine excess, and include headache, palpitations, paroxysmal hypertension, anxiety, abdominal pain and excessive sweating. A phaeochromocytoma cris...

ea0044p127 | Neoplasia, cancer and late effects | SFEBES2016

A review of the diagnostic sensitivity of plasma metanephrine testing in patients with SDH gene mutations

Abraham Shalin , Casey Ruth , Pitfield Deborah , Challis Ben , Simpson Helen

Phaeochromocytomas (PC) are tumours of the adrenal medulla and paragangliomas (PGL) refer to their extra-adrenal counterpart arising from sympathetic or parasympathetic tissue. Mutations in the citric acid cycle enzyme succinate dehydrogenase (SDH) predispose to PC/PGL. Clinical practice guidelines suggest that plasma metanephrine and normetanephrine levels measured in the supine position should be used in the first instance for biochemical diagnosis, and those with positive r...

ea0038p118 | Clinical practice/governance and case reports | SFEBES2015

Management of patients with adrenal insufficiency attending Galway University Hospital compared with current best practice

Cormican Sarah , Casey Ruth , O'Shea Paula , Bell Marcia

Introduction: Patients with adrenal insufficiency (AI) lack endogenous cortisol and require oral hydrocortisone. In primary AI (PAI) endogenous aldosterone synthesis is also lost and patients require oral fludrocortisone. Important long-term issues include wearing MedicAlert jewellery (MAJ) and adequacy of steroid replacement including fludrocortisone, assessed by plasma–renin activity (PRA).We identified patients with AI attending our unit and aime...

ea0037gp.03.06 | Adrenal (2) | ECE2015

Applying a new decision threshold to an old test: does the measurement of plasma metanephrines in patients fasting and supine improve diagnostic sensitivity?

Casey Ruth , Bell Marcia , Dennedy Michael , O'Shea Paula

The recently published Endocrine Society Clinical Practice guideline on phaeochomocytoma and paraganglioma (PPGL) recommends measuring plasma metanephrines (PMets) with patients in the supine position after an overnight fast and using appropriately defined reference intervals.1 Studies have shown higher diagnostic sensitivities using the latter pretesting criteria.2 However, this testing protocol is resource intensive and arguably impractical in routine c...

ea0037ep1268 | Clinical Cases–Thyroid/Other | ECE2015

Hypercalcaemia; a silent indolent course?

Casey Ruth , Higgins Larissa , Lowery Aoife , Kerin Michael , Dennedy Conal

A 83-year-old lady presented to hospital with a one week history of malaise, dyspnoea and chest pain. Her admission bloods revealed a markedly elevated calcium of 4.16 mmol/l. Further investigations revealed a PTH of >5000 ng/l. Clinically the patient had poor dentition which had developed over the past 3 years and a history of episodic abdominal pain and constipation. For investigation of primary hyperparathyroidism, she had an ultrasound neck, which revealed an enlarged ...

ea0094p51 | Innovation in Teaching | SFEBES2023

Genomic notes for clinicians – A genomic testing resource for endocrinologists

Gohil Shailesh , Korbonits Marta , Casey Ruth , Newey Paul , Levy Miles

Introduction: Genomic testing is expected to become a part of mainstream testing in the not-too-distant future, with clinicians ordering genetics tests in the same way routine endocrine tests are requested today. Knowledge on how and what test to request needs to be gathered by a wide range of physicians. To support this, the Genomics Education Programme of NHS England is developing a resource for all endocrinologists to use in clinic as part it’s Genomic...

ea00100wd3.3 | Workshop D: Disorders of the adrenal gland | SFEEU2024

Bilateral phaeochromocytoma heralding a diagnosis of MEN 2A

Faheem Muhammad , Casey Ruth , Stokes Victoria , Schoenmakres Nadia

Pheochromocytoma is a rare catecholamine producing neuroendocrine tumor arising from the adrenal medulla. Approximately 40% of cases are hereditary and the remaining are sporadic. There are several familial syndromic disorders associated with phaeochromocytoma including: von Hippel-Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN2) and, neurofibromatosis type 1 (NF1). Bilateral phaeochromocytoma should prompt suspicion of a hereditary familial syndrome such as M...

ea0052p39 | (1) | UKINETS2017

A case of carcinoid crisis despite high dose somatostatin analogue therapy peri-operatively

Pitfield Deborah , Casey Ruth , Seetho Ian , Shaw Ashley , Buscombe John , Roe Paul , Buczacki Simon , Challis Ben

Introduction: Carcinoid crisis is a life threatening endocrine emergency. It remains unclear whether there is an optimal dose of prophylactic somatostatin analogue (SSA) therapy in the peri-operative periodCase Study: A 62 year old lady with a new diagnosis of metastatic carcinoid disease was electively admitted for a right hemicolectomy for a well differentiated neuroendocrine tumour in the terminal ileum. A multi-disciplinary decision was made to offer...

ea0086oc3.5 | Reproductive and Neuroendocrinology | SFEBES2022

Radiomics as a tool for risk stratification of non-functioning pituitary adenomas following primary surgery

MacFarlane James , Gillett Daniel , Koulouri Olympia , Bashari Waiel , Casey Ruth , Gurnell Mark

Background: Existing biomarkers have limited ability to discriminate indolent non-functioning pituitary adenomas (NFPAs) from those with a propensity to recur following primary surgery. Radiomics, the extraction of quantitative data from medical imaging, is increasingly recognised as a tool to augment clinical decision making.Methods: 39 patients who underwent primary trans-sphenoidal surgery for an NFPA between January 2007 and April 2017, were enrolled...

ea0086p89 | Neuroendocrinology and Pituitary | SFEBES2022

Somatic sequencing in an enriched cohort of recurrent non-functioning pituitary adenomas

MacFarlane James , Clark Graeme , Rodger Fay , Martin Ezequiel , Allinson Kieren , Gurnell Mark , Casey Ruth

Background: Sporadic non-functioning pituitary adenomas (NFPAs) are described as having quiet mutational landscapes. Genes with recurrent somatic alterations have not been identified by previous studies examining heterogeneous pituitary tumour populations. Existing biomarkers have limited ability to discriminate NFPAs with a predisposition for regrowth from those that will follow a more indolent course after primary surgery. We undertook somatic sequencing, in an enriched coho...