Accordingly, loss of function variants in WNT4 and RSPO1 have been linked to virilizing testicular/ovotesticular DSDs in 46,XX, SRY-negative individuals, while gain-of-function variants in genes that activate the β-catenin pathway have been associated with 46,XY DSD [12–17]. The gene discussed is RSPO1; the disease is disorder of sexual differentiation.