Endocrine Abstracts

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 ...

Introduction: Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours that are inherited in at least 40% of cases. The most common pathogenic germline variants (PGVs) implicated in the development of PPGLs are in genes coding for the subunits of succinate dehydrogenase (SDH). PPGLs are heterogenous tumours that have a variable clinical phenotype. Rates of metastatic disease varies from 5-40%. This variability is not currently understood. All patients iden...

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...

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...

Background: Phaeochromocytomas and paragangliomas (PPGLs) are histologically identical tumours that exhibit significant clinical heterogeneity. At least 40% of PPGLs arise due to the presence of a pathogenic germline variant (PGV) in a known susceptibility gene. PGVs affecting the mitochondrial enzyme succinate dehydrogenase (SDHA, SDHB, SDHC and SDHD) are the most common. Phenotypic features of PPGLs secondary to SDHB and SDHD PGVs are well...

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 ...

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...