No variants in the coding sequence of genes potentially causing a similar 46, XY DSD phenotype were found in the WES data of both patients including SRY, TCF21, GATA4, DHH, and PGD2. Patient one carries a DMRT1 variant (c.133T>A, p.Ser45Thr), a synonymous FGF9 variant (c.1284A>G, p.Ser149Ser) and a synonymous FGFR2 variant (c.1343A>G, p.Val232Val), all common in the general population and predicted to be tolerable (Table 1). Here, DMRT1 is linked to disorder of sexual differentiation.