complete androgen insensitivity syndrome
Findings
No curated finding names complete androgen insensitivity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0021023), read 2026-09-29. CC BY 4.0.
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Very frequent (80% to 99% of cases)
- Abnormal uterine cervix morphologyHPOHP:0012888
- Very frequent (80% to 99% of cases)
- Aplasia of the uterusHPOHP:0000151
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the fallopian tubeHPOHP:0008655
- Very frequent (80% to 99% of cases)
- Bilateral cryptorchidismHPOHP:0008689
- Very frequent (80% to 99% of cases)
- Blind vaginaHPOHP:0040314
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Tall statureHPOHP:0000098
- Very frequent (80% to 99% of cases)
- Absent axillary hairHPOHP:0002221
- Frequent (30% to 79% of cases)
- Absent pubic hairHPOHP:0002555
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Increased circulating antimullerian hormone concentrationHPOHP:0031102
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARHGNC:644
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: complete androgen insensitivity syndrome
- Also called
- CAIScomplete androgen resistance syndrome