Searchable abstracts of presentations at key conferences in endocrinology

ea0031p83 | Clinical practice/governance and case reports | SFEBES2013

SDHB mutation and a large asymptomatic paraganglioma in a young woman: the importance of taking a good family history

Foster Stuart , Barwell Julian , Lloyd David , Levy Miles

Succinate dehydrogenase subunit B (SDHB) mutations are associated with a high risk of developing pheochromocytomas, paragangliomas and renal cell tumours. The risk of malignancy is also higher than that of other SDH mutations.A 23-year-old woman was referred to endocrine clinic following confirmation of an SDHB mutation. Her family was screened when a relative underwent a medical, prior to starting a new job, and a significant family history of renal tum...