ea0044p5 | Adrenal and Steroids | SFEBES2016
Tufton Nicola
, Shapiro Lucy
, Srirangalingam Umasuthan
, Richards Polly
, Sahdev Anju
, Kumar V K Ajith
, Chew Shern L
, Drake William M
, Storr Helen
, Akker Scott A
Introduction: Germline mutations in succinate dehydrogenase subunit B (SDHB) are one of the commonest findings in familial paraganglioma (PGL) syndromes and account for one quarter of PGLs associated with germline mutations. Although the penetrance is low, the malignancy conversion is high; up to 30%. With the increasing availability of genetic testing and the identification of ‘asymptomatic carriers’ of the SDHB gene mutation, it is therefore impor...