Androgen insensitivity syndrome
ORPHA:754· ICD-10 E34.5
Definition
A rare difference of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal