Swyer's syndrome (or 46,XY complete gonadal dysgenesis) is a disorder of sexual development associated with abnormalities in the development of the genitals. Those who have it have a male chromosome kit but develop internal and external female genitalia.
It is usually diagnosed in adolescence when patients develop normal external female genitalia, but no pubertal development.
Internal genitals, specifically the ovaries, are associated with a higher risk of developing abdominal tumors and therefore their removal is recommended. In adolescence, hormone replacement treatment is indicated.
Women who have Swyer's syndrome can become pregnant because they have a uterus. However, since they do not have ovaries, the oocytes can only come from an anonymous donor.
