Ambiguous genitalia
Steroid biosynthesis		Others or sex reversal
CYP11A1; CYP11B1; CYP11B2; CYP17; CYP21;CYP21A2; HSD3B2; POR; SRD5A2; StAR		AMH; AMHR2; AR; ARX; LHCGR; LHR; NRFA1;NR0B1; RSP01; SOX9; SRY; WT1
Gonadal dysgenesis
CYP11A1; Dicentric Y chromosome; NR5A1(Sf1); NR0B1; SRY; SRY promoter; WT1
Hypospadias
AR; ATF3; MAMLD1 (CXorf6); Dicentric Y; EFNB2; ESR1; ESR2; FGFR2; HOXA13; HOXD11; HOXD13; INSL3; MID1; RXFP2 (LGR8/GREAT)
Micropenis
Gene defects	Structural chromosome defects	Numerical chromosome defects
ALKBH1; AHRR; ALG12; ESR1; GHR; NRSA1; SOX2; TBX3	Chromosomes 2, 4, 5, 6, 7, 8, 11, 12,14, 15, 16, 17, 18 and 21	Ring X, Y; Trisomy 14; 49, XXXXY; 47, XYY
Cryptorchidism
ARX; CYP19A1; DHH; ESR1; HOXD13; INSL3; KRAS; NRSA1; PTPN11; PWCR; RAF1; RXFP2; SOS1; SOX2; SPAG4L; SPATA12; ZNF214; ZNF215
Testis cancer
AR; BMP; CTNNB1; DIABLO; DND1; EGFR; EEF1A; FOXL2; GNAS; HMGA1; HMGA2; KIT; KND1; KRAS; NANOG; PATZ1; POLG; POU5F1; REG1; SMAD1; SMAD5; SOX2; SOX17; SPATA12. TSPY1; WT1
Vas deferens
CFTR, HNF1B