Searchable abstracts of presentations at key conferences in endocrinology

ea0063oc1.1 | Calcium and Bone | ECE2019

Genetic testing for hereditary hyperparathyroidism in a large UK cohort

Mariathasan Sashi , Andrews Katrina , Thompson Edward , Armstrong Ruth , Park Soo-Mi , Casey Ruth

Primary hyperparathyroidism (PHPTH) is a common endocrine disorder and it is estimated that 10% of cases are hereditary, related to syndromes including; multiple endocrine neoplasia (MEN) type 1, MEN type 4, MEN2A and hereditary hyperparathyroidism jaw tumour syndrome. Further hereditary cases can occur in the absence of syndromic features such as familial hypercalcemia hypocalcuria. Identifying cases of hereditary PHPTH enables a personalised medicine approach. Current guidel...

ea0049ep58 | Adrenal cortex (to include Cushing's) | ECE2017

Adrenal incidentaloma: a challenging dilemma!

Bonner Caoimhe , Shah Usman , Hawkins Anna , Pittathankal Anthony , Syed Imran , Casey Edel , Nikookam Khash

The prevalence of adrenal incidentaloma on abdominal Computed Tomography (CT) is around 4.4%. This prevalence is increased in obese, diabetic, hypertensive patients, and could be as high as 10% in older patients. Unilateral adrenal masses larger than 4 cm should be considered for surgical removal to avoid missing adrenal carcinoma, particularly in younger patients.This is the case of a 67 year old gentleman with Type 2 diabetes mellitus, known to have hy...

ea0049ep103 | Adrenal medulla | ECE2017

The storm before the calm: a phaeochromocytoma

Nikookam Yasmin , Bonner Caoimhe , Bettany Edward , Pittathankal Anthony , Gunasekara Ranjan , Casey Edel , Nikookam Khash

We report a case of a male patient aged 45 years who presented with a history of intermittent back discomfort over a year, but more persistent over the previous 2–3 months. His general practitioner (GP) referred him for an ultrasound of the spine for a possible encapsulated lipoma but the findings were unremarkable. He was then referred to a consultant gastroenterologist for further assessment. He had normal endoscopic examinations, however the MRI had shown a right adren...

ea0049ep1213 | Clinical case reports - Thyroid/Others | ECE2017

Pharyngeal Irritation, Incidental Neck Masses; A difficult journey

Grant Bonnie , Tanday Raj , William Augustine , Pittathankal Antony , Casey Edel , Nikookam Khash

This is a case of a 48-year-old lady initially referred to respiratory clinic with symptoms of breathlessness. She had a high-resolution CT thorax where an incidental finding of a right para-oesophageal 2.4-cm soft tissue density at the level of the thyroid gland identified. A CT neck was performed for further evaluation again showed the soft tissue mass (26 mm×37 mm) situated to the right of the oesophagus and another mass (16 mm×26 mm) left of the oesophagus. Discu...

ea0049ep1485 | Thyroid (non-cancer) | ECE2017

Thyroid nodules: a huge dilemma!

Grant Bonnie , Goulden Bethan , Tanday Raj , Casey Edel , Pittathankal Antony , Ojo Akin , Syed Imran , Nikookam Khash

Current UK guidelines for thyroid nodules advise a thyroid ultrasound (ThyUSS) with U-Classification with or without Fine Needle Aspiration (FNA) with Thy-Classification to determine malignancy risk. We report four cases where thyroid carcinoma was diagnosed histologically following reassuring cytology and radiological examination. This is a case of 28-year-old female who presented with neck swelling. ThyUSS showed an enlarged left thyroid with cystic and solid components; FNA...

ea0044p126 | Neoplasia, cancer and late effects | SFEBES2016

Radiological surveillance in multiple endocrine neoplasia type 1: A double edged sword?

Casey Ruth , Saunders Debbie , Challis Ben , Pitfield Deborah , Cheow Heok , Shaw Ashley , Simpson Helen

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition characterised by the predisposition to hyperplasia or the development of solitary adenomas of multiple endocrine gland. MEN1 related disease is responsible for death in two thirds of patients with this hereditary condition and the mean age at death is 55 years. This associated mortality necessitates a vigorous surveillance protocol, however all recommendations for radiological surveillance are based on non-pr...

ea0041ep528 | Diabetes complications | ECE2016

Diabetes mellitus, pre-dialysis, extreme anxiety, and sarcoidosis

Shah Usman , Soule Erik , Nikookam Yasmin , James Ajit , Casey Edel , Nikookam Khash

Diabetic nephropathy is the leading cause of chronic kidney disease and is responsible for 30–40% of all end stage renal disease (1). Where there is rapid decline in eGFR, we should also consider other aetiologies.This is the case of a 65-year-old Caucasian gentleman with complex presentation and novel management strategy with type 2 diabetes mellitus since 1999 which was effectively managed, evident by reasonable control of HBA1c; Pharmacotherapy r...

ea0059oc1.5 | Translational highlights | SFEBES2018

In vivo and ex vivo metabolomics in succinate dehydrogenase deficient tumorigenesis

Casey Ruth , Basetti Madhu , McLean Mary , Challis Ben , Gallagher Ferdia , Maher Eamonn

Mutations affecting the mitochondrial enzyme succinate dehydrogenase (SDH) are associated with a wide spectrum of tumours. SDH deficient tumours have a unique tumour metabolome due to the interruption of the citric acid cycle and accumulation of the ‘oncometabolite’ succinate, which drives tumourigenesis. Investigating the tumour metabolome of SDH deficient tumours has potential translational application. MRI spectroscopy (1H-MRS) was used for in vivo<...

ea0038p220 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2015

Endogenous ARX knockdown enhances beta-cell lineage specification and maturation during ex vivo transdifferentiation of human exocrine pancreatic tissue

Lima Maria Joao , Docherty Hilary M , Muir Kenneth R , Forbes Shareen , Casey John , Docherty Kevin

The shortage of donor material has driven research towards finding a replenishable supply of islets for transplantation. We have previously shown that the exocrine material that results as a by-product of the islet isolation procedure can be transdifferentiated towards functional islet-like structures by overexpression of the pancreatic transcription factors (TFs) Pdx1, MafA, Ngn3 and Pax4 followed by culture in the presence of betacellulin, nicotinamide and exendin-4. These c...

ea0037ep1051 | Thyroid (non-cancer) | ECE2015

Seaweed derived gaseous iodine: a source of iodine intake in coastal communities?

Smyth Peter , Burns Robert , Casey Michael , Andersson Maria , Mullan Karen , O'Dowd Colin

This communication tests the hypothesis that iodine (I2) gas or iodine oxides released from seaweeds previously shown to enhance atmospheric iodine adjacent to seaweed hotspots, may through being inspired by respiration, supply a significant fraction of daily iodine requirements. This could assume importance in a country such as Ireland where iodised salt availability is <5%. Iodine intake was assessed by measuring urinary iodine (UI) excretion using a dry ashing technique...