Editing Disorders of Sexual Differentiation (section)

=== Unclassified Forms ===

==== Embryonic Testicular Regression and Bilateral Vanishing Testes Syndromes ====
* '''Karyotype: 46XY'''
* '''Two seperate syndromes characterized by bilateral absent testes in whom there is clear evidence of testicular function at some point during embryogenesis'''
** Distinguished from 46,XY pure gonadal dysgenesis, in which there is no evidence of testicular function in utero
** Embryonic testicular regression refers to loss of testicular tissue within the first trimester and is associated with ambiguity of external genitalia
** Bilateral vanishing testes syndrome refers to individuals in whom male sexual differentiation of ducts and genitalia took place but regression of testicular tissue occurred subsequently in utero.
** Regression of the testes in utero is caused by a genetic mutation, a teratogen, or bilateral torsion
** '''Clinically, these two syndromes represent a spectrum of phenotypes ranging in severity from complete female, to varying degrees of genital ambiguity in the embryonic testicular regression syndrome, to a normal male phenotype with microphallus and empty scrotum in the bilateral vanishing testes syndrome.'''
* '''The diagnosis can be made on the basis of a 46,XY karyotype, castrate levels of testosterone, elevated serum LH and FSH, and undetectable MIS level'''
* Management
** Dictated by clinical spectrum of either disorder

==== Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome ====
* '''Characterized by 46,XX karyotype, and are normal-appearing female phenotype with normal secondary sex characteristics, and congenital absence of the uterus and vagina.'''
** The external genitalia appear normal, but only a shallow vaginal pouch is present.
** In the typical form of the syndrome there is symmetrical anatomy with absence of both vagina and uterus.
** '''Normal ovaries and fallopian tubes are present, and ovarian function is normal'''
* '''Most common clinical presentation is primary amenorrhea''', but patients may have infertility or dyspareunia
* '''Upper urinary tract anomalies occur in approximately 1/3 of patients''' and include renal agenesis, pelvic kidney, and horseshoe kidney
** Urinary tract anomalies occur more commonly in patients with the atypical form
* Imaging with ultrasonography and MRI may define müllerian anatomy accurately and distinguish between typical and atypical forms of the disorder
* Management entails creation of a neovagina, by means of dilation or surgically, to allow for sexual function