Table 1.
Chromosomal location | Gene | Number of copies | Phenotype | Reference |
Y Chromosome | SRY | 0 | Female | |
1 | Male | [12] | ||
X Chromosome | Dax-1 | 1 | Normal | |
2 | Female XY | [13] | ||
Autosomal | Sox9 | 1 | Female XY | [14,15] |
Masculinizing | 2 | Normal | ||
3 | Male XX | [16] | ||
Autosomal | SF-1 | 1 | Female XY | [17] |
Masculinizing | 2 | Normal | ||
Autosomal | WT1 | 1 | Female XY | [18] |
Masculinizing | 2 | Normal | ||
Autosomal | Dmrt1 | 1 | Female XY | [19] |
Masculinizing | 2 | Normal |