Complete androgen insensitivity syndrome
Synonyms: CAIS · Complete androgen resistance syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complete androgen insensitivity syndrome | CAIS · Complete androgen resistance syndrome |
| fr | Syndrome d'insensibilité complète aux androgènes | CAIS · SICA |
| de | Androgen-Insensitivität, komplette | |
| es | Síndrome de insensibilidad completa a los andrógenos | CASI · SICA · Síndrome de resistencia completa a los andrógenos |
| it | Sindrome da insensibilità completa agli androgeni | CAIS · Sindrome da resistenza completa agli androgeni |
| nl | Complete androgeeninsensitiviteitssyndroom | CAIS · CAOS · Complete androgeenongevoeligheidssyndroom · Complete androgeenresistentiesyndroom |
| pt | Insensibilidade aos androgénios completa | |
| pl | Zespół całkowitej niewrażliwości na androgeny | CAIS · Zespół całkowitej oporności na androgeny |
| cs | Syndrom kompletní necitlivosti na androgeny | CAIS · Syndrom kompletní rezistence na androgeny |
| uk | Синдром повної нечутливості до андрогенів | CAIS · Синдром повної андрогенної резистентності |
| zh | 雄激素完全不敏感综合征 | 完全性雄激素抵抗综合征 |
| tr | Tam androjen duyarsızlığı sendromu | CAIS · Tam androjen direnci sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300068 | E | validated | |
| ICD-10 | E34.5 | NTBT | attributed | validated |
| ICD-11 | LD2A.4 | NTBT | index | validated |
| MONDO | 0021023 | E | validated | |
| UMLS | C0936016 | E | validated | |
| GARD | 10597 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:754Androgen insensitivity syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AR | Disease-causing germline mutation(s) in | Assessed | HGNC:644 | ENSG00000169083 | 313700 | Xq12 | androgen receptor | 20301602[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.83 / 100 000 | Worldwide | Value and class | Not yet validated | ORPHANET_22698698[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
25 annotations · validated 2025-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0012888 | Abnormality of the uterine cervix | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0008655 | Aplasia/Hypoplasia of the fallopian tube | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0040314 | Blind vagina | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0025134 | Increased serum estradiol | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0003251 | Male infertility | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0002221 | Absent axillary hair | |
| HP:0002555 | Absent pubic hair | |
| HP:0000739 | Anxiety | |
| HP:0000823 | Delayed puberty | |
| HP:0031102 | Increased antimullerian hormone level | |
| HP:0002215 | Sparse axillary hair | |
| HP:0002225 | Sparse pubic hair | |
| Occasional (29-5%) | ||
| HP:0000716 | Depression | |
| HP:0010788 | Testicular neoplasm | |
| Very rare (<4-1%) | ||
| HP:0030346 | Abnormal circulating follicle-stimulating hormone level | |
| HP:0001061 | Acne | |
| HP:0100728 | Germ cell neoplasia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 39391975[PMID]_30970592[PMID]_29949163[PMID]_29768628[PMID]_20301602[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99429
- This record as JSON: /data/d/99429.json