androgen insensitivity syndrome
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
intersex condition |
| gptkbp:affects |
sexual development
individuals with XY karyotype |
| gptkbp:causedBy |
mutations in the androgen receptor gene
|
| gptkbp:chromosomeInvolved |
gptkb:X_chromosome
|
| gptkbp:diagnosedBy |
genetic testing
hormone analysis |
| gptkbp:firstDescribed |
John McLean Morris
|
| https://www.w3.org/2000/01/rdf-schema#label |
androgen insensitivity syndrome
|
| gptkbp:ICD-10_code |
E34.5
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:OMIM |
300068
|
| gptkbp:otherName |
testicular feminization syndrome
|
| gptkbp:prevalence |
1 in 20,000 to 64,000 male births
|
| gptkbp:riskFactor |
increased risk of gonadal tumors
|
| gptkbp:subspecies |
complete androgen insensitivity syndrome
mild androgen insensitivity syndrome partial androgen insensitivity syndrome |
| gptkbp:symptom |
infertility
undescended testes lack of menstruation female external genitalia in genetically male individuals |
| gptkbp:treatment |
psychological support
hormone replacement therapy gonadectomy in some cases |
| gptkbp:bfsParent |
gptkb:Androgen_receptor
gptkb:Dihydrotestosterone_receptor gptkb:NR3C4 gptkb:androgen_receptor |
| gptkbp:bfsLayer |
7
|