Alternative Names complete androgen insensitivity syndrome, male pseudohermaphroditism
Definition Testicular feminisation occurs in a person who is genetically male and has the external appearance of a female.
What is going on in the body? 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 feminisation.
The female hormone is present in both sexes. So someone with testicular feminisation 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 under-developed testicles in the pelvis. Externally, the person looks like a completely normal female.
What are the signs and symptoms of the condition? This condition may be suspected when:
a young girl has a small groin hernia, and testicles are found in the hernia sac
an older girl does not menstruate, which is called amenorrhoea
at puberty a girl develops breasts, but little or no pubic or underarm hair
the genitals are somewhat ambiguous, as in the incomplete form of testicular feminisation
What are the causes and risks of the condition? The complete form of testicular feminisation is a genetic defect. No other problems are associated with it. Incomplete forms may happen along with a variety of unusual genetic syndromes.
How is the condition diagnosed? Often the condition is diagnosed when small hernias in girls reveal tissue like that of testicles. The diagnosis is considered whenever women have amenorrhoea. Genetic testing reveals normal male chromosomes. Often a pelvic examination will be done and a test to measure hormone levels in the blood will be done.
What are the long-term effects of the condition? A person with complete testicular feminisation 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.
What are the treatments for the condition? 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 oestrogen in an individual with testicular feminisation, so oestrogen 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 counselling may be needed during reproductive years when the woman may be frustrated by her infertility.
What are the side effects of the treatments? The woman's body will change very little after the underdeveloped testicles are removed.
What happens after treatment for the condition? 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 anaesthesia.
How is the condition monitored? Monitoring includes regular physicals and monitoring hormone replacement levels. Any new or worsening symptoms should be reported to the doctor.
Author: Stuart Wolf, MD Reviewer: HealthAnswers Australia Medical Review Panel Editor: Dr David Taylor, Chief Medical Officer HealthAnswers Australia Last Updated: 1/10/2001 Contributors Potential conflict of interest information for reviewers available on request
