Androgen insensitivity syndrome

Androgen Insensitivity Syndrome (AIS) is a condition that some individuals are born with. The person with AIS may have all of the physical characteristics of a female but will have the genetic or DNA makeup of a male. This rare disorder affects about 7,500 women in the United States alone. This disorder happens when a female is born with an X and a Y chromosome as opposed to 2 X chromosomes. One of her X chromosomes is defective so that the body is not able to respond to the hormones that create the male characteristics. The condition can be a random mutation of the genes or it can be genetically passed down from mother to child.

Androgen insensitivity syndrome is divided into two main categories:

  • Complete AIS
  • Incomplete AIS

The complete form of androgen insensitivity disorder occurs in as many as 1 in 20,000 births. Complete AIS will result in the lack of penis development and other male body parts. The child will be born with the appearance of a girl. Incomplete AIS will result in the failure of one or both testes descending into the scrotum after birth. The opening of the urethra may also open on the underside of the penis rather than on the tip. Incomplete AIS is associated with other disorders like Reifenstein Syndrome. This syndrome is associated with the breast development in men. Incomplete AIS may also be associated with infertile male syndrome.

The symptoms of someone being born with Androgen Insensitivity Syndrome may be the appearance of a female body only without the uterus. The person who has this disorder will have very little hair in the pubic area and under arm pits after puberty. There is usually no normal menstruation cycle that begins at puberty either.

An individual born with incomplete androgen insensitivity syndrome can also develop a mixture of both male and female characteristics. For example, the person may have a partial closing of the outer vaginal lips, a short vagina and an enlarged clitoris. There may be no cervix or uterus. Upon exam, an inguinal hernia with a teste may be felt. The person may develop female breasts and have testes in the abdomen or other places in the body.

Complete androgen insensitivity syndrome may not ever be discovered during childhood and it may not be until puberty that problems arise. Then again, a mass may be felt in the abdomen of a child that turns out to be a testicle when the child undergoes surgical exploration for the mass. Complete AIS is more commonly discovered when menstruation fails to take place at puberty. Incomplete AIS, on the other hand, is discovered early if the person develops both male and female physical characteristics.

Medical testing done to diagnose androgen insensitivity syndrome may include:

  • Blood tests to determine testosterone levels, luteinizing hormone and follicle stimulating hormones and the level of androgen deficiency
  • Karotyping (genetic testing)
  • Ultrasound testing on pelvic region

When the individual is diagnosed with AIS nothing is medically done for the child until they complete puberty at which time gender assignment can be assigned. At this point an undescended testicle can be removed and estrogen replacement therapy can begin for a female gender. Individuals who have complete AIS can have a good prognosis if the testicular tissue is removed at the right time. The outlook for incomplete AIS can be complex and will depend on how ambiguous the genitalia is. There may be many psychosocial issues to deal with. Testicular cancer and infertility may also be issues that must be dealt with. You or your child should go in for a medical evaluation if you suspect androgen insensitivity syndrome or if you have a history of this disorder in the family.

Last updated on Jan 26th, 2010 and filed under Other Conditions & Diseases. Both comments and pings are currently closed.

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