Endocrine Abstracts

Background: Germline mutations in SDHB, SDHC, and SDHD cause hereditary phaeochromocytoma and paraganglioma (PGL) syndromes. The genotype-phenotype correlation of these mutations and relationship to penetrance is poor. Our objective was to assess characteristics of patients with SDH mutations seen in our dedicated multidisciplinary clinic.Methods: A retrospective observational study of patients attending from May 2005 to May 2010, approved as an institut...