XX male syndrome is a genetic disease associated with gender dysplasia and characterized by a spectrum of clinical presentations, which range from ambiguous to normal male genitalia. The incidence of XX male syndrome is about 1 per 20,000- 25,000. The majority of XX males with SRY gene have normal genitalia, whereas most SRY-negative cases have ambiguous genitalia. Here, we report a case of a SRY-negative XX male with ambiguous genitalia.

• 류미선(조선대학교 의학전문대학원 소아청소년과학교실) | Mi Sun Ryu
• 김은영(조선대학교 의학전문대학원 소아청소년과학교실) | Eun Young Kim Corresponding author