loading...| Preferred Name | Androgen insensitivity syndrome | |
| Synonyms |
Testicular feminization syndrome Morris syndrome AIS Androgen resistance syndrome Goldberg-Maxwell syndrome |
|
| Definitions |
A disorder 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). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_754 |
|
| alternative_term |
Testicular feminization syndrome Morris syndrome AIS Androgen resistance syndrome Goldberg-Maxwell syndrome |
|
| definition |
A disorder 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). |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=754 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
X-linked recessive |
|
| hasDbXref |
ICD-10:E34.5 UMLS:C0039585 ICD-11:LD2A.4 MedDRA:10056292 MeSH:D013734 |
|
| label |
Androgen insensitivity syndrome |
|
| notation |
Clinical group ORPHA:754 |
|
| prefixIRI |
ORDO:Orphanet_754 |
|
| prefLabel |
Androgen insensitivity syndrome |
|
| present_in |
Netherlands AND has_birth_prevalence_average_value : 1.01 AND has_birth_prevalence_range : 1-9 / 100 000 Denmark AND has_annual_incidence_average_value : 0.04 AND has_annual_incidence_range : <1 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 4.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_325632 http://www.orpha.net/ORDO/Orphanet_399685 http://www.orpha.net/ORDO/Orphanet_325351 |