Androgen insensitivity syndrome (AIS) is when a person who is genetically male (who has one X and one Y chromosome) is resistant to male hormones (called androgens). As a result, the person has some of the physical traits of a woman, but the genetic makeup of a man.
AIS is caused by genetic defects on the X chromosome. These defects make the body unable to respond to the hormones that produce a male appearance.
The syndrome is divided into two main categories:
In complete AIS, the penis and other male body parts fail to develop. At birth, the child looks like a girl. The complete form of the syndrome occurs in as many as 1 in 20,000 live births.
In partial AIS, people have different numbers of male traits.
Partial AIS can include other disorders, such as:
Infertile male syndrome is also considered to be part of partial AIS.
A person with complete AIS appears to be female but has no uterus. They have very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop. However, the person does not menstruate and become fertile.
People with partial AIS may have both male and female physical characteristics. Many have partial closing of the outer vagina, an enlarged clitoris, and a short vagina.
There may be:
Testicles that are in the wrong place may not be removed until a child finishes growing and goes through puberty. At this time, the testes may be removed because they can develop cancer, just like any undescended testicle.
Estrogen replacement may be prescribed after puberty.
Treatment and gender assignment can be a very complex issue, and must be targeted to each individual person.
Martine Cools is in Gent, Belgium. Cools is rated as an Elite expert by MediFind in the treatment of Androgen Insensitivity Syndrome. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are Intersex, Androgen Insensitivity Syndrome, Partial Androgen Insensitivity Syndrome, and Swyer Syndrome.
Rafael Batista is in Sao Paulo, Brazil. Batista is rated as an Elite expert by MediFind in the treatment of Androgen Insensitivity Syndrome. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Intersex, Androgen Insensitivity Syndrome, Partial Androgen Insensitivity Syndrome, and Frasier Syndrome.
Ieuan Hughes is in Cambridge, United Kingdom. Hughes is rated as a Distinguished expert by MediFind in the treatment of Androgen Insensitivity Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Partial Androgen Insensitivity Syndrome, Intersex, Androgen Insensitivity Syndrome, and Swyer Syndrome.
The outlook for complete AIS is good if the testicle tissue is removed at the right time to prevent cancer.
Call your health care provider if you or your child has signs or symptoms of the syndrome.
Published Date : July 21, 2020
Published By : Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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