Complete 46, XY Gonadal Dysgenesis (Swyer Syndrome) in an Adolescent with Primary Amenorrhea
Background Swyer syndrome (46,XY pure gonadal dysgenesis) is a rare disorder of sex development, that presents with delayed puberty and primary amenorrhea in phenotypic females. It is characterized by a 46,XY karyotype and streak gonads due to the absence of functional gonadal tissue. Case Presentation We report a case...