Endocrine Abstracts

Introduction: The Carney-Stratakis syndrome (CSS) is an inherited condition caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C or D that predispose to gastric stromal tumors (GIST) and multicentric paragangliomas (PGL). SDH acts as a tumor suppressor gene, and enzyme activity reduction is known to be oncogenic. Since 2002 there has been some scarce reports. We present a new case of CSS associated with a germline unknown significance mutation in exon 4 ...