Endocrine Abstracts

Background: SDH mutations cause about 80% of familial pheochromocytomas / paragangliomas (1). Although mutations in each subunit are associated with a particular clinical spectrum of disease, there is no clear genotype-phenotype correlation of a specific mutation, nor with penetrance of disease. We report characteristics of patients with SDH mutations seen in a single dedicated tertiary referral clinic.Methods: A retrospective observational study of pati...