/46,XY complete gonadal dysgenesis

46,XY complete gonadal dysgenesis

Rare Disease

MONDO:0010765

Also Known As

46 XY gonadal dysgenesis46, XY CGD46, XY complete gonadal dysgenesis46, XY pure gonadal dysgenesis46,XY CGD46,XY SEX reversal46,XY gonadal dysgenesis46,XY pure gonadal dysgenesisSwyer syndromepure gonadal dysgenesis 46,XYgonadal dysgenesis, XY female typesex-reversing locus on Xsex-reversing locus on X, formerlytestis-determining Factor, X-chromosomal

Definition

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.