Androgen insensitivity syndrome
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
intersex condition |
| gptkbp:affects |
gptkb:androgen_receptor
sexual development individuals with XY karyotype |
| gptkbp:causedBy |
mutations in the AR gene
|
| gptkbp:diagnosedBy |
genetic testing
hormone analysis |
| gptkbp:firstDescribed |
1953
John McLean Morris |
| gptkbp:hasFeature |
resistance to androgens
|
| https://www.w3.org/2000/01/rdf-schema#label |
Androgen insensitivity syndrome
|
| gptkbp:ICD-10_code |
Q56.0
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
|
| gptkbp:MeSH_ID |
D001034
|
| gptkbp:OMIM |
300068
|
| gptkbp:prevalence |
1 in 20,000 to 64,000 male births
|
| gptkbp:riskFactor |
gonadal tumors
|
| gptkbp:subspecies |
complete androgen insensitivity syndrome
mild androgen insensitivity syndrome partial androgen insensitivity syndrome |
| gptkbp:symptom |
infertility
female external genitalia in XY individuals lack of pubic and axillary hair undescended testes |
| gptkbp:synonym |
gptkb:AIS
|
| gptkbp:treatment |
psychological support
hormone replacement therapy |
| gptkbp:bfsParent |
gptkb:P06493
|
| gptkbp:bfsLayer |
6
|