Two unrelated undervirilized 46XY males with inherited NR5A1 variants identified by whole exome sequencing

摘要

BackgroundUndervirilized 46,XY males with bifid scrotum often pose a diagnostic challenge, and the majority of cases typically do not receive a genetic diagnosis. NR5A1 mutations can be seen in 10–20% of cases and are a relatively common cause of undervirilization.