Endocrine Abstracts

The increased testing for key genes associated with familial paraganglioma syndromes has, in turn, led to a rapid increase in the identification of asymptomatic carriers through cascade screening. Mutations in SDH subunits B and D account for approximately 50% of the ‘gene positive’ index case results, yet there remains significant controversy and variability with respect to the screening strategies for their asymptomatic relatives. For SDHD at risk carriers, surveillance imaging strategies should aim to identify tumours early in order that morbidity is minimised, by intervening with the correct mode of treatment at the appropriate time. SDHB gene mutations pose a particular problem due to the dichotomy between a relatively low penetrance and a relatively high rate of malignant transformation. Reliable surveillance imaging strategies for SDHB require both a modality and a frequency of imaging that aims to prevent the occurrence of metastatic SDHB related disease, whilst minimising the impact and potential harm to the individual.