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Complete androgen insensitivity syndrome

ORPHA:99429· ICD-10 E34.5

Definition

Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.

Prevalence
1-9 / 1 000 000
Inheritance
X-linked recessive
Age of onset
All ages