| 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 | |||
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