Editing Disorders of Sexual Differentiation (section)

==== 46,XX Males ====
* '''Karyotype: 46XX'''
* '''Characterized by testicular development in subjects who have two X chromosomes and lack a normal Y chromosome'''
* '''Two categories of patients with XX maleness have been identified:'''
** '''SRY positive (90% of cases)'''
*** '''The most common mechanism to explain sex reversal is translocation of Y-chromosomal material, including SRY, to the X chromosome.'''
*** '''Rarely have genital abnormalities, but they have phenotypic features of Klinefelter syndrome, including hypogonadism, gynecomastia, azoospermia'''. These patients differ from those with Klinefelter syndrome in that they are shorter and have normal skeletal proportions
** '''SRY negative'''
*** More commonly have genital ambiguity
* '''Clinical characteristics:'''
** '''Most of these subjects have normal male external genitalia''', but 10% have hypospadias
** '''All are infertile'''
* Management
** Similar to Klinefelter syndrome
** Androgen replacement benefits selected patients, and reduction mammoplasty may be beneficial.
** Likely that these patients will also be at increased risk for breast carcinoma and testis tumor.
** '''Unable to have biological children because of their lack of germ cell elements'''
*** Those classic patients with infertility would not benefit from testicular biopsy for potential intracytoplasmic sperm injection