Endocrine Abstracts

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...

75% of patients presenting with a phaeochromocytoma (PCC) or paraganglioma (PGL) have no relevant family history, but a germline pathogenic variant is identified in 30–40%. In our genetic endocrine clinic, over 80% of patients with malignant PCC or PGL have SDHA/SDHB/SDHC/SDHD/MAX or FH pathogenic variants identified, confirming high heritability in severe disease.We describe a series of seven patients from fiv...

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...

75% of patients presenting with a phaeochromocytoma (PCC) or paraganglioma (PGL) have no relevant family history, but a germline pathogenic variant is identified in 30–40%. In our genetic endocrine clinic, over 80% of patients with malignant PCC or PGL have SDHA/SDHB/SDHC/SDHD/MAX or FH pathogenic variants identified, confirming high heritability in severe disease.We describe a series of seven patients from fiv...

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...

Insulin Tolerance Test (ITT) is a procedure commonly done by Endocrine Specialist Nurse in endocrine department. We look at over 120 ITT results done in 2 endocrine centres using Insulin Actrapid 0.15 UNITS/kg and 0.10 UNITS/kg dose plotting the glucose levels at 30, 45 and 60 min. We also look at peak GH and peak cortisol on each of these groups.Aims: We wanted to know how many percentage of patients achieving hypoglycaemia below 0.5 mmol/l, 0.5–1....

Congenital hypogonadotropic hypogonadism (CHH (MIM161110)) due to GnRH deficiency is a rare genetic disorder (affects ~1/30 000) characterised by abnormal pubertal development and infertility. Over 60% cases have anosmia (Kallmann syndrome) and some exhibit additional phenotypes. CHH is a genetically heterogeneous developmental disease. Most cases present sporadically, although familial forms (AD, AR, and X-linked) with incomplete penetrance and variable expressivity occur. Re...