Clinical manifestations of 46,XY individuals with the pathogenic MAP3K1 gene variants range from severe DSD (with or without gonadoblastoma) to milder phenotypes such as hypospadias, cryptorchidism, and a small penis (Pearlman et al., 2010; Ostrer, 2014; Eggers et al., 2016; Granados et al., 2017; Igarashi et al., 2020; Cheng et al., 2021). This evidence concerns the gene MAP3K1 and disorder of sexual differentiation.