Editing Disorders of Sexual Differentiation (section)

=== Ovotesticular Disorder of Sex Development ===

* '''Karyotype: 46,XX''' though many patients will have a second mosaic cell line with a Y-chromosome present
* '''Characterized by presence of both testicular tissue with well-developed seminiferous tubules and ovarian tissue with primordial follicles'''
** '''May take the form of one ovary and one testis or, more commonly, one or two ovotestes'''
* '''Both the external genitalia and internal duct structures of ovotesticular DSD display gradations between male and female'''
** '''In most patients the external genitalia are ambiguous but masculinized to variable degrees'''
** '''Differentiation of the internal ducts is related to the function of the ipsilateral gonad'''.
*** '''Fallopian tubes (Mullerian structure) are consistently present on the side of the ovary, and a vas deferens (Wolffian structure) is always present adjacent to a testis.'''
*** The ovotestis, which comprises two thirds of gonads in ovotesticular DSD, is associated with a fallopian tube in two thirds of patients and with either a vas deferens only or both structures in one third of patients.
*** '''Most patients have a uterus'''
** '''Can have cyclical hematuria'''§
* '''Management'''
** '''Gender assignment based on the potential for fertility is the most important aspect of management'''
*** '''Histopathology of the ovotestis will typically demonstrate well-developed ovarian tissue and a dysgenetic testicular component'''
*** '''Unlike patients with most other forms of gonadal dysgenesis, individuals with ovotesticular DSD the and the appropriate ductal structures have the potential for fertility if raised as female.'''
**** Ovulation and pregnancy have been reported for female patients with 46,XX ovotesticular DSD
**** Male fertility has not been clearly documented
** '''If the patient is to be raised as female, all testicular and wolffian-derived tissue should be removed'''.
*** '''Postoperative stimulation with hCG to confirm that all testicular tissue has been removed is recommended.'''
*** When ovarian tissue is preserved, normal ovarian function can occur at puberty, although hormonal replacement may be necessary.
*** Careful surveillance for potential gonadal tumors in the patient raised as female is also advisable.
** '''If a male gender is assigned, as has been most common historically, all ovarian and müllerian tissue should be removed'''.
*** '''75% are raised as male'''
*** '''Consideration should be given to gonadectomy at puberty''' with appropriate androgen replacement given the high risk of malignancy and unlikelihood of male fertility