Identification of PXR haploinsufficiency by next generation sequencing in a patient with anabolic steroid-induced cholestasis

Background: Use of anabolic steroids (AAS) is increasing among amateur athletes (Evans-Brown et al. Lancet 2008). Many AAS users report side effects, including severe cholestasis in selected cases. The lack of genome-wide association study signals for drug-induced liver injury (DILI) outside the known major histocompatibility complex supports the concept that genetic determinants of DILI could be drug-specific and reflect rare genetic variation. Methods & results: A 32-year-old Caucasian male with no significant medical history was admitted to our department with acute AAS-induced cholestasis. Acute jaundice and…