46,XY complete gonadal dysgenesis

46,XY complete gonadal dysgenesis, sometimes known as Swyer syndrome, is a disorder of sex development (DSD). In this condition, people have a typical 46,XY karyotype; however, their gonads do not develop properly. This abnormal development leads to the formation of female external and internal genitalia, even though the genetic makeup is typically associated with males. The condition arises because the gonads, which would normally develop into testes, do not form as expected. This result in a body that develops many characteristics typically seen in people with female sex development. The definition provided emphasizes the unique nature of this condition, where genetic findings do not match the usual anatomy of the reproductive system.

Information about symptoms is currently limited for this condition.

46,XY complete gonadal dysgenesis occurs due to anomalies in the development of the gonads. While the definition indicates that the gonads do not develop normally, detailed genetic factors or specific causes are not described in the provided information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.