Editing Disorders of Sexual Differentiation (section)

==== 46,XY Complete (“Pure”) Gonadal Dysgenesis (Swyer Syndrome) ====
* '''Karyotype: may be due to an abnormality of the SRY gene'''
** '''Mutations in the SRY gene are the cause in 10-15% of cases'''
* '''Characterized by:'''
** '''[Female phenotype] normal female genitalia, well-developed müllerian structures'''
** '''Bilateral streak gonads'''
** '''Non-mosaic karyotype'''
* '''Because there is complete absence of testicular determination in this condition, ambiguity of genitalia is not an issue, but sexual infantilism is the primary clinical problem'''
* '''Majority present in their teens with delayed puberty and amenorrhea'''
* '''Increased risk for germ cell tumors'''
** '''Gonadoblastoma is most common, and it is frequently bilateral'''
* Management:
** Removal of both streak gonads and proper cyclic hormone replacement with estrogen and progesterone.