46,XY sex reversal

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects humans
gptkbp:alsoKnownAs gptkb:Swyer_syndrome
XY gonadal dysgenesis
gptkbp:category disorders of sex development
gptkbp:cause mutations in SRY gene
mutations in other sex-determining genes
gptkbp:chromosomalSex 46,XY
gptkbp:diagnosedBy karyotype analysis
genetic testing
gptkbp:firstDescribed 1955
https://www.w3.org/2000/01/rdf-schema#label 46,XY sex reversal
gptkbp:inheritance usually sporadic
gptkbp:phenotypicSex female
gptkbp:riskFactor increased risk of gonadoblastoma
gptkbp:symptom lack of secondary sexual characteristics
primary amenorrhea
streak gonads
gptkbp:treatment hormone replacement therapy
gonadectomy
gptkbp:bfsParent gptkb:SOX9
gptkb:MAP3K1
gptkbp:bfsLayer 7