Testicular feminization occurs in a person who is genetically male and has the external appearance of a female.
The male hormone testosterone works by binding to a protein in cells of the body. If there is a defect in this protein, the cells do not respond to testosterone. This is what happens in testicular feminization.
The female hormone is present in both sexes. So someone with testicular feminization will develop on the outside as a female. Inside, there is a vagina, but the upper part of the uterus and the fallopian tubes are missing. There are underdeveloped testicles in the pelvis. Externally, the person looks like a completely normal female.
This condition may be suspected when: a young girl has a small groin hernia, and testicles are found in the hernia sacan older girl does not menstruate, which is called amenorrheaat puberty a girl develops breasts, but little or no pubic or underarm hairthe genitals are somewhat ambiguous, as in the incomplete form of testicular feminizationa young woman is infertile, and also has amenorrhea
The complete form of testicular feminization is a genetic defect. No other problems are associated with it. Incomplete forms may happen along with a variety of unusual genetic syndromes.
Often the condition is diagnosed when small hernias in girls reveal tissue like that of testicles. The diagnosis is considered whenever women have amenorrhea. Genetic testing reveals normal male chromosomes. Often a pelvic exam will be done and a test to measure hormone levels in the blood will be done.
A person with complete testicular feminization is a completely normal female externally. The person can lead quite normal lives, but cannot bear children. There is a risk of testicular cancer in the underdeveloped testicles, so they should be removed.
Often the testicles are removed when the hernia repair is done. If not, the testicles should be removed after puberty. This is fairly minor surgery. The testicles are the source of estrogen in an individual with testicular feminization, so estrogen replacement will be needed after the surgery.
Sometimes surgery is done to create a functional vagina for the purposes of intercourse, but not reproduction. Emotional support or counseling may be needed during reproductive years when the woman may be frustrated by her infertility.
The woman's body will change very little after the underdeveloped testicles are removed.
Removal of the testicles is a safe, minor surgical procedure. Complications from any surgical procedure include risk of bleeding, infection, or allergic reaction to the anesthesia.
Monitoring includes regular physicals and monitoring hormone replacement levels. Any new or worsening symptoms should be reported to the healthcare provider.