Endocrine Abstracts

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: Cortisol has a suppressive effect on corticotroph proliferation. In Cushing’s disease (CD), the relative resistance to glucocorticoid (GC) action may favor corticotroph tumor formation and autonomous ACTH secretion.Objective: To analyze the consequences of long-term GC exposure on corticotroph tumor cell proliferation and to evaluate the modification of gene expression attributable to prolonged GC treatment.Methods...

Background: Transient thyroiditis following parathyroidectomy, although uncommonly documented, can arise from various etiologies such as autoimmune disorder, infections and other post inflammatory states, commonly with Immunotherapy. Post-surgical thyroiditis, including cases post-parathyroidectomy, is not fully elucidated in terms of its mechanisms. Herein, we present two cases of transient thyroiditis post-parathyroidectomy, highlighting the divergent outcomes and thereby th...

Bladder Paragangliomas (PGLs) are a rare manifestation of sympathetic chain PGLs and occur in prone patients with SDH mutation.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 report four cases illustrating diagnostic management and outcome issues in this rare neuroendocrine pathology; two with SDHB muta...

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...

Background: Tertiary adrenal insufficiency (TAI) is a complication of long-term exogenous steroid use which results in suppression of the hypothalamic-pituitary-adrenal (HPA) axis. The short synacthen test (SST) is used to assess HPA axis function and recovery during glucocorticoid weaning. This study examined the effect of steroid preparation, dosage and therapy duration on HPA axis suppression.Method: A retrospective analysis of 950 SSTs performed betw...

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...

Sleep disordered breathing (SDB), including obstructive sleep apnoea (OSA), is associated with excessive daytime somnolence, and impacts significantly on quality of life in affected individuals. It also predisposes to premature cardiovascular (hypertension, congestive cardiac failure, myocardial infarction, sudden death, and stroke) and metabolic (diabetes mellitus and dyslipidaemia) dysfunction.SDB is a well-recognised complication of acromegaly. In mos...