Searchable abstracts of presentations at key conferences in endocrinology

ea0006p28 | Diabetes, metabolism and cardiovascular | SFE2003

DOES INSULIN FORMULATION MATTER IN ANTENATAL DIABETES CARE?

Kumar J , Baynes K , Pender S , Lowy C , Jones R , Carroll P

Aim: To assess usage of newly available rapid-acting insulin analogues in the antenatal diabetes clinic, and to determine whether introduction of these agents has influenced glycaemic control.Methods: We analysed our diabetes antenatal clinic attendances from April 2002 to June 2003 using the DIABETA 3 database. 290 pregnant women were seen over this period which was divided into three groups: Group I (April to September 2002), Group II (October 2002 to ...

ea0006dp27 | Diabetes, metabolism and cardiovascular | SFE2003

DOES INSULIN FORMULATION MATTER IN ANTENATAL DIABETES CARE?

Kumar J , Baynes K , Pender S , Lowy C , Jones R , Carroll P

Aim: To assess usage of newly available rapid-acting insulin analogues in the antenatal diabetes clinic, and to determine whether introduction of these agents has influenced glycaemic control.Methods: We analysed our diabetes antenatal clinic attendances from April 2002 to June 2003 using the DIABETA 3 database. 290 pregnant women were seen over this period which was divided into three groups: Group I (April to September 2002), Group II (October 2002 to ...

ea0056p139 | Endocrine tumours and neoplasia | ECE2018

Prevalence of undiagnosed Medullary Thyroid Carcinoma and Phaeochromocytoma in MEN2A syndrome revealed by cascade screening

Kumar Rakshit , Joshi Mamta , Velusamy Anand , Mcgowan Barbara , Powrie Jake , Izatt Louise , Carroll Paul

Mutations in the RET gene are responsible for Multiple Endocrine Neoplasia type 2A (MEN2A), characterised by Medullary Thyroid Carcinoma (MTC) and Pheochromocytoma (PCC). It is well recognised that there is a genotype-phenotype correlation regarding likelihood of endocrine tumour development. The American Thyroid Association (ATA) has published predictive grading to guide clinical management of patients with RET mutations.Aim: In this study, we aim to as...

ea0073aep388 | Endocrine-Related Cancer | ECE2021

Clinical, genetic & imaging characteristics of mediastinal paraganglioma – a case series

Quinn Mark , Paul Carroll , McGowan Barbara , Joshi Mamta , Izatt Louise , Velusamy Anand

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...

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...