Searchable abstracts of presentations at key conferences in endocrinology

ea0052p01 | (1) | UKINETS2017

Genetics and diagnostic characterisation of bladder paragangliomas

Rafique Shaina , Surendran Aarthi , Joshi Mamta , Breen Louise , Velusamy Anand , Izzat Louise , McGowan Barbara , Powrie Jake , Carroll Paul V

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...

ea0050p302 | Neuroendocrinology and Pituitary | SFEBES2017

Unaffected genetic testing in families at risk of phaeochromocytoma or paraganglioma

Izatt Louise , Carroll Paul , McGowan Barbara , Powrie Jake , Moonim Mufaddal , Jacques Audrey , Obholzer Rupert , Whitelaw Benjamin , Kumar Ajith , Akker Scott

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...

ea0050cc05 | Featured Clinical Cases | SFEBES2017

Mutational analysis and SDHB immunostaining in bladder paraganglioma

Rafique Shaina , Surendran Aarthi , Joshi Mamta , Breen Louise , Velusamy Anand , Izatt Louise , McGowan Barbara , Powrie Jake , Carroll Paul V

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...

ea0050p302 | Neuroendocrinology and Pituitary | SFEBES2017

Unaffected genetic testing in families at risk of phaeochromocytoma or paraganglioma

Izatt Louise , Carroll Paul , McGowan Barbara , Powrie Jake , Moonim Mufaddal , Jacques Audrey , Obholzer Rupert , Whitelaw Benjamin , Kumar Ajith , Akker Scott

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...

ea0050cc05 | Featured Clinical Cases | SFEBES2017

Mutational analysis and SDHB immunostaining in bladder paraganglioma

Rafique Shaina , Surendran Aarthi , Joshi Mamta , Breen Louise , Velusamy Anand , Izatt Louise , McGowan Barbara , Powrie Jake , Carroll Paul V

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...

ea0090p12 | Adrenal and Cardiovascular Endocrinology | ECE2023

HPA axis suppression in patients treated with glucocorticoids: relationship to dose, duration and likelihood of recovery

Gregori Maria , Carroll Paul , Thakali Sonu , Breen Louise , Velusamy Anand , McGowan Barbara , Kariyawasam Dulmini , Tremble Kathryn , Saqib Aaisha

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...

ea0090p167 | Pituitary and Neuroendocrinology | ECE2023

Somatostatin analogue treatment is associated with lack of progression of pNETs <20mm in size in patients with MEN1

Frizelle Isolda , Velusamy Anand , McGowan Barbara , Breen Louise , Duncan Emma , Izatt Louise , Christodoulou Dimitra , Joshi Mamta , Paul Carroll

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...

ea0063p427 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

Genetic mutations in bladder paragangliomas - not just SDHB-related disease

Anandappa Samantha , Breen Louise , Thurairaja Ramesh , Christodoulou Dimitra , Jacques Audrey , Velusamy Anand , McGowan Barbara , Izatt Louise , Carroll Paul

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...

ea0048p1 | Poster Presentations | SFEEU2017

Weight loss and associated improvements in cardiometabolic risk factors with liraglutide 3.0 mg in the SCALE Obesity and Prediabetes randomised, double-blind, placebo-controlled 3-year trial

McGowan Barbara , Fujioka Ken , Greenway Frank , Krempf Michel , Le Roux Carel , Vettor Roberto , Lilleore Soren , Astrup Arne

Aims/objectives: Obesity and prediabetes are risk factors for developing T2D. 5–10% weight-loss can reduce risk of developing T2D by >50%. The 3-year part of this phase 3 trial investigated effects of liraglutide 3.0 mg, as adjunct to diet+exercise, in delaying onset of T2D over 3 years, body-weight and cardiometabolic risk factors in adults with obesity or overweight with comorbidities, and diagnosed with prediabetes at screening.Methods: Indiv...

ea0034p428 | Thyroid | SFEBES2014

The influence of thyrotoxicosis on circulating cortisol and response to Synacthen

Chowdhury Alex , Khanom Aziza , Agustsson Tomas , Sandhu Sunita , Sankaralingam Arun , Breen Louise , Powrie Jake , Thomas Stephen , McGowan Barbara

Background: It is recognised that there is ‘cross-talk’ between the thyroid and hypothalamo-pituitary–adrenal (HPA) axes. The few available studies suggest that cortisol levels may be low and cortisol metabolism altered in some patients with thyrotoxicosis.Aim: To compare HPA axis variables in the thyrotoxic state (TT) and euthyroid state (EU).Materials and methods: Short synacthen testing (250 μg tetracosactide...