Overall, 11.5% (14/122) of all 46, XY DSD patients were found to carry P/LP variants in more than one gene known to be associated with DSD (ANOS1, AR, BBS7,CHD7, FGFR1, FGFR3, FLNA, GPC3, HOXA13, KAT6B, LHCGR, NRAS, NR5A1, OFD1, PRKAR1A, PROK2, PROKR2, RXFP2, SEMA3A, SHH and SRD5A2). This evidence concerns the gene NR5A1 and disorder of sexual differentiation.