So far, at least 21 different deleterious MAP3K1 gene variants have been identified, resulting in 46,XY DSD; out of these, 18 are missense variants, two are splice site variants, and one is a small deletion variant (Kim et al., 2017; Chamberlin et al., 2019; Xue et al., 2019). This evidence concerns the gene MAP3K1 and disorder of sexual differentiation.