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Differences of sex development |
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Diagnosis |
Cause |
Breast development |
Reproductive organs |
Axillary & pubic hair |
Karyotype |
|
Complete androgen insensitivity syndrome |
X-linked mutation of androgen receptor |
Yes |
Absent uterus & upper vagina; cryptorchid testes |
Minimal to absent |
46,XY |
|
5-α reductase deficiency |
Nonfunctioning enzyme to convert testosterone to DHT |
No |
Absent uterus & upper vagina; cryptorchid testes |
Normal |
46,XY |
|
Müllerian agenesis |
Hypoplastic or absent müllerian ductal system |
Yes |
Absent or rudimentary uterus & upper vagina; normal ovaries |
Normal |
46,XX |
|
Turner syndrome |
Complete/partial absence of an X chromosome |
Variable* |
Normal uterus & vagina; streak ovaries |
Normal |
45,X |
|
*Breast development is dependent on degree of ovarian function. DHT = dihydrotestosterone. |
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