Searchable abstracts of presentations at key conferences in endocrinology

ea0052p05 | (1) | UKINETS2017

Incidence of PCC/PGL in mutation positive family members at first contact

AhmedMohammed Isra , Velusamy Anand , McGowan Barbara , Izatt Louise , Powrie Jake , Obholzer Rupert , Carroll Paul

SDH mutations that contribute 15%–20% of PCC/PGL syndromes predispose to the development of tumours that originate from Adrenal, Parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. We conducted a retrospective analysis to identify the prevalence of PCC/PGL and elevated biomarkers during initial screening in patients newly identified as carrying a pathogenic SDH mutation.Method: Data collection from our random cohort of patie...