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Start free with EleplanComplete androgen insensitivity syndrome
ORPHA:99429Disease
Also called CAIS · Complete androgen resistance syndrome
What it is
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.
Key facts
- Prevalence
- 1-9 / 1 000 000
- Age of onset
- All ages
- Inheritance
- X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
13- Abnormality of the uterine cervix
- Abnormal morphology of female internal genitalia
- Aplasia/Hypoplasia of the fallopian tube
- Aplasia of the uterus
- Bilateral cryptorchidism
- Blind vagina
- Elevated circulating luteinizing hormone level
- Female external genitalia in individual with 46,XY karyotype
- Increased serum estradiol
- Increased serum testosterone level
- Male infertility
- Primary amenorrhea
- Tall stature
Common30–79%
7These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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