Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2008) 15 OC1

1St Bartholomew’s Hospital, London, UK; 2Churchill Hospital, Oxford, UK; 3University of Birmingham School of Medicine, Birmingham, UK; 4Derriford Hospital, Plymouth, UK; 5Colchester General Hospital, Colchester, UK; 6Queen Elizabeth Hospital, King’s Lynn, UK; 7Queen Elizabeth Medical Centre, Birmingham, UK; 8University of Oxford, Oxford, UK; 9Great Ormond Street Hospital, London, UK.

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.

Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.

Design: Retrospective case series.

Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D. 7.4, range 0–31).

Measurements: Features of clinical presentation, genetic mutations, tumour location, catecholamine secretion, clinical course and management.

Results: Sixteen of Thirty-two subjects (50%) were affected by disease. Ten different mutations in the SDH-B gene were seen with 2 previously undescribed. A family history of disease was noted in 18% of index subjects. Mean age at diagnosis was 34 years (S.D. 15.4, range 10–62), with a 50% penetrance by the age of 26 years in affected subjects. 41% (13/32) of all subjects were hypertensive and 39% (12/31) had elevated secretions of catecholamines/metabolites. 19% (6/32) of subjects had adrenal disease and 38% (12/32) had extra-adrenal disease. 25% (8/32) of subjects had abdominal paragangliomas, 9% (3/32) pelvic, 6% (2/32) thoracic and 3% (1/32) had a head and neck paraganglioma. 9% (3/32) had multifocal disease. Metastatic paragangliomas developed in 16% (5/32) of subjects. One subject also had a metastatic type II papillary renal cell carcinoma. The overall malignancy rate was 19% (6/32). A carotid artery dissection, patent foramen ovale and an aortic aneurysm were noted in subjects without hypertension.

Conclusion: SDH-B mutation carriers develop disease early and predominantly in extra-adrenal locations. Disease penetrance is incomplete. Metastatic disease is prominent but levels are less than previously reported. Clinical manifestations may include papillary renal cell carcinoma and macrovascular disease.

Volume 15

Society for Endocrinology BES 2008

Society for Endocrinology 

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