Endocrine Abstracts

Bladder Paragangliomas (PGLs) constitute < 1% of all bladder tumours and 5% in our patient cohort of 80 patients with tumours due to SDH deficiency. They often display an aggressive phenotype with metastatic disease and require long-term follow up. SDHB immunostaining plays a significant role in initial risk stratification and facilitating appropriate genetic testing. We present four cases of bladder PGLs; two with SDHB mutation, one SDHA and one is awaiting extended genet...

Bladder Paragangliomas (PGLs) constitute < 1% of all bladder tumours and 5% in our patient cohort of 80 patients with tumours due to SDH deficiency. They often display an aggressive phenotype with metastatic disease and require long-term follow up. SDHB immunostaining plays a significant role in initial risk stratification and facilitating appropriate genetic testing. We present four cases of bladder PGLs; two with SDHB mutation, one SDHA and one is awaiting extended genet...

Introduction: Pancreatic neuroendocrine tumours (pNETs) are the main cause of mortality in patients with multiple endocrine neoplasia type 1 (MEN1). The CLARINET study demonstrated that somatostatin analogue treatment improved progression free survival in patients with enteropancreatic NETs but little is known about the role of SSA in preventing progression of pNETs in MEN1 (1). Many centres have started using SSA treatment in MEN1 patients with enlarging pNETs or tumours &#62...

Bladder Paragangliomas (PGLs) are rare forms of neuroendocrine tumours arising from sympathetic paraganglionic tissue. They account for <1% of all Pheochromocytomas and Paragangliomas (PPGLs) and < 0.06% of all bladder tumours. All patients with PPGLs are recommended to be considered for genetic testing as ~ 40% of PPGLs are associated with a germline mutation, even if there is no prior family history of disease. Identifying an inherited PPGL predisposition has importa...

Adeno‐associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitati...

Introduction: Mutations in the succinate dehydrogenase gene (SDH) predispose to the development of paraganglioma (PGL) which arise from parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. Identification of an index case results in family ‘cascade’ screening, often of asymptomatic individuals.Aims: To identify prevalence of PGL tumours and elevated plasma metanephrines at first scre...

Introduction: Mutations in the succinate dehydrogenase gene (SDH) predispose to the development of paraganglioma (PGL) which arise from parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. Identification of an index case results in family ‘cascade’ screening, often of asymptomatic individuals.Aims: To identify prevalence of PGL tumours and elevated plasma metanephrines at first scre...

Introduction: Pheochromocytoma and Paraganglioma (PPGL) are neuroendocrine tumours arising from chromaffin cells in the adrenal medulla or ganglia in the autonomic nervous system. ~40% of PPGL arise due to germline mutation (commonly SDHx) and sporadic tumours frequently have causative somatic mutations. 15-20% of PPGL behave in a malignant manner. ~95% PPGL express somastostatin receptors and are GaDOTATATE avid. Lutathera® is a commercially available PR...

Introduction: Childhood obesity remains a major health concern and there are a number of serious complications associated with it. These include type 2 diabetes mellitus (T2DM), obstructive sleep apnoea (OSA), idiopathic intracranial hypertension (IIH) and non-alcoholic fatty liver disease (NAFLD). Glucagon-like peptide 1 (GLP-1) therapy has shown promising results for weight loss in adults and has recently been approved for the use in the treatment of childhood obesity for ad...

SDH mutations that contribute 15%–20% of PCC/PGL syndromes predispose to the development of tumours that originate from Adrenal, Parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. We conducted a retrospective analysis to identify the prevalence of PCC/PGL and elevated biomarkers during initial screening in patients newly identified as carrying a pathogenic SDH mutation.Method: Data collection from our random cohort of patie...