Editing Disorders of Sexual Differentiation (section)

==== Mixed Gonadal Dysgenesis (MGD) ====
* '''Karyotype: most 45,XO/46,XY'''
* '''Clinical characteristics (4):'''
*# '''Unilateral dysgenetic testis, which is often intra-abdominal'''
*# '''Contralateral streak gonad'''
*# '''Persistent contralateral müllerian structures'''
*# '''Varying degrees of inadequate masculinization'''
* The phenotypic spectrum of patients with XO/XY mosaicism ranges from phenotypic females with Turner syndrome, to those with ambiguous genitalia, to those with normal male genitalia.
** '''MGD is the 2nd most common cause of ambiguous genitalia (after CAH) in the neonatal period and must be in the differential diagnosis.'''
** '''The majority of these patients have varying degrees of phallic development, a urogenital sinus with labioscrotal fusion, and an undescended testis.'''
* '''The dysgenetic or streak gonad is associated with ipsilateral müllerian derivatives (uterus, fallopian tube)'''
** '''In virtually all patients, a uterus, vagina, and fallopian tube are present.'''
* '''The dysgenetic testis'''
** '''Is capable of responding to gonadotropins and secreting testosterone in normal quantities at puberty'''
** '''Lacks germinal elements, so infertility is the rule'''
* '''Increased risk of developing'''
** '''A gonadal tumor (gonadoblastoma, dysgerminoma)'''
*** '''Gonadoblastoma is the most common'''
** '''Wilms tumor'''
* '''Management'''
** '''Gender assignment'''
** '''Appropriate gonadectomy'''
** '''Proper screening for Wilms tumor'''