The long-tailed goral (Naemorhedus caudatus) is classified as 'vulnerable' by the International Union for Conservation of Nature and has been designated an endangered species requiring conservation and management in Korea. The sex determination region of the Y (SRY) gene is a useful marker for the study of paternal lineages; however, the SRY gene of the goral has not yet been sequenced. In this study, the nucleotide sequence of the SRY gene of long-tailed gorals was determined based on the sequence of the SRY gene of goats (Capra hircus). The obtained sequences were aligned with those of other species in the Bovidae family. The long-tailed goral SRY gene comprised 720 base pairs, and its nucleotide and protein sequences were identical to those of goats, sheep (Ovis aries), and cattle (Bos taurus) by 96%, 97%, and 93%, respectively. The results of phylogenetic insights obtained from this study constitute important references for genetic diversity and pedigrees studies of male long-tailed gorals and closely related species.

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.