46, XY DSD is associated with genetic mutations in key genes involved in testis development, such as the testis-determining gene SRY, SOX9, NR5A1, MAP3K1, and DHX37 (Eggers et al., 2016; Xu et al., 2019; Reyes et al., 2023). The gene discussed is SOX9; the disease is disorder of sexual differentiation.