Androgen insensitivity syndrome
Synonyms: AIS · Androgen resistance syndrome · Goldberg-Maxwell syndrome · Morris syndrome · Testicular feminization syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Androgen insensitivity syndrome | AIS · Androgen resistance syndrome · Goldberg-Maxwell syndrome · Morris syndrome · Testicular feminization syndrome |
| fr | Syndrome d'insensibilité aux androgènes | AIS · Syndrome de Goldberg-Maxwell · Syndrome de Morris · Syndrome de féminisation testiculaire · Syndrome de résistance aux androgènes |
| de | Androgeninsensitivitätssyndrom | AIS · Androgen-Resistenz-Syndrom · Androgenresistenz-Syndrom · Goldberg-Maxwell-Syndrom · Morris-Syndrom · Syndrom der testikulären Feminisierung (TFM) |
| es | Síndrome de insensibilidad a los andrógenos | AIS · Síndrome de Goldberg-Maxwell · Síndrome de Morris · Síndrome de feminización testicular · Síndrome de resistencia a los andrógenos |
| it | Sindrome da insensibilità agli androgeni | AIS · Sindrome da femminilizzazione testicolare · Sindrome da resistenza agli androgeni · Sindrome di Goldberg-Maxwell · Sindrome di Morris |
| nl | Androgeeninsensitiveitssyndroom | AIS · AOS · Androgeenongevoeligheidssyndroom · Androgeenresistentiesyndroom · Syndroom van Goldberg-Maxwell · Syndroom van Morris · Testiculaire feminisatie-syndroom |
| pt | Síndrome de insensibilidade aos androgénios | Pseudo-hermafroditismo masculino por insensibilidade aos androgénios · Síndrome Goldberg-Maxwell · Síndrome Morris · Síndrome de feminização testicular · Síndrome de resistência aos androgénios |
| pl | Zespół niewrażliwości na androgeny | AIS · Zespół feminizujących jąder · Zespół Goldberga i Maxwella · Zespół Morrisa · Zespół oporności na androgeny |
| cs | Syndrom androgenní insenzitivity | AIS · Syndrom androgenní rezistence · Syndrom Goldbergové-Maxwellové · Syndrom testikulární feminizace · Morrisův syndrom · Reifensteinův syndrom · Syndrom Goldberg-Maxwellové |
| uk | Синдром нечутливості до андрогенів | AIS · Синдром резистентності до андрогенів · Синдром Гольдберга-Максвелла · Синдром Морріса · Синдром фемінізації яєчок |
| zh | 雄激素不敏感综合征 | 睾丸女性化综合征 |
| tr | Androjen duyarsızlığı sendromu | AIS · Morris sendromu · Goldberg-Maxwell sendromu · Androjen direnci sendromu · Testiküler feminizasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E34.5 | E | specific | validated |
| ICD-11 | LD2A.4 | E | specific | validated |
| MONDO | 0019154 | E | validated | |
| MONDO | 19154 | E | validated | |
| MeSH | D013734 | E | validated | |
| UMLS | C0039585 | E | validated | |
| GARD | 5803 | E | validated | |
| MedDRA | 10056292 | 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 (4):
- ORPHA:32535146,XY difference of sex development of endocrine origin
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare endocrine diseases - ORPHA:32563246,XY difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:325713Genetic 46,XY difference of sex development of endocrine origin
rare genetic diseases - ORPHA:399685Rare male infertility due to testicular endocrine disorder
rare genetic diseases; rare infertility disorders
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.01 / 100 000 | Netherlands | Value and class | Validated | 11549642[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 4.1 / 100 000 | Denmark | Value and class | Validated | 27603905[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.04 / 100 000 | Denmark | Value and class | Validated | 27603905[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/754
- This record as JSON: /data/d/754.json