Approximately one third of 46,XY CGD cases are caused by point mutations or deletions of SRY. 112 Other genes associated with spontaneous or familial cases of 46,XY DSD and CGD include NR5A1,113DHH,114NR0B1,115WNT4,116CBX2,117DMRT1 and DMRT2,118,119 and MAP3K1. 120 In the case of NR0B1 and WNT4, rare gene duplications are thought to cause the XY gonadal abnormalities. Here, NR5A1 is linked to chronic granulomatous disease.