Table 1.
Differences between Swyer syndrome and androgen insensitivity syndrome.
| Feature | Swyer syndrome | Androgen insensitivity syndrome |
|---|---|---|
| Karyotype | 46-XY | 46-XY |
| Pathology | Lack of SRY gene on Y chromosome | X-linked mutation in androgen receptor gene |
| Lack of testicular development | Resistance to androgens | |
| Hormonal assay | Low testosterone, low AMH | High testosterone, normal AMH |
| Phenotype and external genitalia | Female | Female |
| Internal genitalia | Streak gonads | Testes |
| Mullerian structures | Present to variable degrees | Absent |
| Testes | Absent | Present |
AMH, anti-Mullerian hormone.