Searchable abstracts of presentations at key conferences in endocrinology

ea0077p222 | Neuroendocrinology and Pituitary | SFEBES2021

SDHD missense pathogenic variants: not always benign

Haboosh Sara , Carroll Paul , Izatt Louise , Quinn Mark , Velusamy Anand

Pathogenic variants in the SDHx genes are responsible for ~20% of familial Phaeochromocytoma/Paraganglioma (PPGL) tumours. Metastatic disease is lower in SDHD in comparison to SDHA, B and C mutations. Although the genotype-phenotype relationship is not well established it is considered that truncating SDHD pathogenic variants have a higher risk of causing disease in comparison to missense variants. We present two cases of metastatic paraganglioma in patients with heterozygous ...

ea0065p254 | Metabolism and Obesity | SFEBES2019

St James’s Hospital intensive care unit insulin discharge policy – A quality improvement project

Quinn Mark , Courtney Ashling , Smyth Coilin-Collins , Healy Marie-Louise , Pazderska Agnieszka , O'Connor Enda

Background: Many patients require IV insulin during their critical illness. Maintenance of insulin in St James’s Hospital ICU is governed by a local protocol. At the time of ICU discharge, IV insulin therapy is often stopped. Transitioning from IV to subcutaneous insulin is often done with endocrinology input. If this is unavailable inappropriate insulin dosing may increase the risk of hypo-/hyperglycaemia.Aims: To reduce the number of episodes of h...

ea0073aep388 | Endocrine-Related Cancer | ECE2021

Clinical, genetic & imaging characteristics of mediastinal paraganglioma – a case series

Quinn Mark , Paul Carroll , McGowan Barbara , Joshi Mamta , Izatt Louise , Velusamy Anand

IntroductionParagangliomas (PGLs) are neuroendocrine tumours that arise from neural crest-derived chromaffin cells. They can develop anywhere these cells exist from the base of the skull to the pelvis. All PGLs have neuro-secretory potential and can produce symptoms due to catecholamine excess. While the majority are benign they do have malignant potential. Mediastinal PGLs are rare and often have a strong genetic predisposition. A higher proportion of t...

ea0094p337 | Endocrine Cancer and Late Effects | SFEBES2023

Pilot study of liquid biopsy in paragangliomas: a feasible alternative to tissue biopsy in inoperable and multifocal lesions?

White Gemma , Quinn Mark , Carroll Paul , Velusamy Anand , Thakali Sonu , J. Oakey Rebecca , Izatt Louise , Hassan Fahim-UI

Background: Phaeochromocytoma and paraganglioma (PPGL) are highly heritable, with 30-40% due to a germline pathogenic variant. An additional 40% of tumours will harbour a somatic variant. Understanding the variant status of a tumour enables molecular classification. Liquid biopsy offers a novel approach to non-invasive diagnostics by harnessing the ability to detect small amounts of circulating-free DNA (cfDNA) and performing genomic sequencing. There are few ...

ea0063p789 | Thyroid 2 | ECE2019

Is repeat fine needle aspiration required in thyroid nodules with initial benign cytology?

Zia-Ul-Hussnain Hafiz Muhammad , Quinn Mark , Dolan Emma , Sherlock Mark , Thompson Chris , Smith Diarmuid , O'Neill James Paul , Leader Mary , Barrett Helen , Hill Arnold , Morrin Martina , Ryan Cliona , Agha Amar

Background: Fine needle aspiration (FNA) is the preferred method for assessing thyroid nodules but concern remains about false negative results. The primary aim of this study was to investigate the malignancy rate in nodules which were initially classified as benign (BTA classification Thy 2). The secondary aim was to look at the distribution of different cytological categories in a large cohort of patients.Methods: We retrospectively examined 719 nodule...