The XY female: A rare case of Swyer syndrome with dysgerminoma

ABSTRACT

Swyer Syndrome is a pure form of gonadal dysgenesis that although rare, should not be disregarded in the differential diagnosis of patients who present with primary amenorrhea and abdominopelvic mass. The dysgenetic gonads fail to produce antimullerian hormone in an individual with Swyer Syndrome who is genetically male, resulting in feminization and absence of virilization. Phenotypically female, they usually seek consult at a later time during their teenage years due to primary amenorrhea. Our index patient consulted due to a large abdominopelvic mass and primary amenorrhea. Hormonal assay showed a hypergonadotropic hypogonadism endocrinologic milieu, and on karyotyping, showed a genetically male individual. This paper shall discuss an in-depth pre-operative, surgical and post-operative management of patients diagnosed with Swyer Syndrome.