Androgen insensitivity syndrome (AIS) is a rare, inherited, sexual development disorder. People with AIS are genetically male, but don’t develop male external genitals because their bodies can’t respond to male sex hormones. AIS can cause problems during puberty, as well as infertility as an adult.
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Androgen insensitivity syndrome (AIS) is a rare condition that affects sexual development. It occurs when someone is genetically male, but their body doesn’t respond to male sex hormones called androgens. This results in a person having male sex chromosomes (one X and one Y chromosome) but not having male genitals. AIS affects males during fetal development and during puberty. AIS was previously called testicular feminization syndrome.
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AIS happens due to genetic mutations, which are changes to genes that affect how they function. With AIS, the gene mutation prevents male genitals from developing in people who are genetically male. AIS almost always results in infertility.
Receiving an AIS diagnosis for yourself or your child can be difficult. The condition isn’t life-threatening, but people with AIS may struggle with gender identity or have concerns about their body image. It’s helpful to have a supportive network of healthcare providers, family and friends to talk to. Surgery can help people with AIS have genitals that match their gender identity.
The different types of AIS are:
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The most common symptom across all forms of AIS is infertility. People with CAIS won’t be able to get pregnant or make their partners pregnant. They have genitals that appear female, but they don’t have female reproductive organs. It’s very rare for people with PAIS to make their partners pregnant. Even if they have a very small penis, sperm production is usually low or nonexistent.
Other signs and symptoms of complete androgen insensitivity syndrome (CAIS) include:
Other signs and symptoms of partial androgen insensitivity syndrome (PAIS) can include:
Androgen insensitivity syndrome is a hereditary condition, meaning it’s passed down from the mother to the child. It happens when there’s a defect or abnormality in the androgen receptor (AR) gene. Androgen receptors are the cells that allow your body to respond to androgens like testosterone.
Androgens play a major role in male sexual development, supporting the development of sex organs and regulating hair growth and sex drive. The abnormal gene either blocks or partially blocks androgens. This causes a person who is genetically male to not have male genitals or other sexual traits that are typical for males.
Males who inherit the abnormal AR gene have a 1 in 4 chance of developing AIS. Females can also inherit and carry the gene, but they won’t develop AIS.
Androgen insensitivity syndrome isn’t life-threatening. Still, there are possible complications from AIS, like:
A healthcare provider can often diagnose PAIS (partial AIS) right after birth by looking at a baby’s genitals and noticing both male and female sexual characteristics.
But CAIS (complete AIS) or MAIS might not be evident until the age of 11 or 12, when puberty begins. This is the time when a healthcare provider might notice issues. A child with CAIS may not have menstrual periods or have any pubic hair.
A child with mild AIS might have a very small penis or develop breasts. Puberty is also when undescended testicles can bulge through an opening in the abdominal wall. Sometimes, healthcare providers discover undescended testicles if your child has surgery for an inguinal hernia.
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Your healthcare provider will need to do tests to confirm a diagnosis. These include:
If you have a biological family history of AIS, you may choose to have genetic testing if you’re considering having children. These tests can tell you if you’re a carrier of the abnormal gene.
Most treatments take place after puberty. This gives your child’s body time to go through developmental changes. It also allows your child to play a more active role in their treatment decisions.
But some health experts think certain treatments, such as removal of the testicles, should happen before puberty. This reduces the risk of developing tumors in undescended testicles. Other treatments can happen after puberty.
Children raised as boys may choose to have:
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Children raised as girls may choose to have:
Parents and healthcare providers may decide not to assign a gender at birth. Sometimes, they wait until puberty to choose one. Or parents might want the child to choose their own.
People with AIS can lead full, healthy lives. Most people respond well to treatments like hormone therapy and surgery. But AIS usually results in infertility, which can be difficult for many people. It can also have profound psychological effects on children and young adults.
No. AIS typically results in being unable to have children.
AIS doesn’t affect your life expectancy in any way. You may be more at risk for certain conditions (that your provider will manage or treat), but this typically doesn’t affect your lifespan.
There’s no way to prevent AIS. If you have a biological family history of the disease and worry about passing the abnormal gene to your child, genetic testing can help you find out if you’re a carrier.
Caring for your child’s psychological health is a huge part of managing AIS. A strong support system of healthcare providers, friends and family members who understand their condition is important. Support groups can also help your child share their experiences with others who are going through similar challenges.
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It’s important to talk with your child about their AIS around the time of puberty. That’s when they’ll notice they aren’t developing like their peers. They may also have a better idea of which gender they want to identify as.
AIS presents many challenges for adults. You may struggle to have a normal sex life or find a partner who understands and accepts your condition. Infertility can also have a profound emotional effect on many people.
Some older children or adults may develop gender dysphoria. This is distress or dissatisfaction with their gender identity assigned at birth. They may choose to transition from one gender to another. This change is a complex physical and emotional process.
If you have AIS, it may help to talk with a counselor or therapist about your experiences. Support groups can help you connect with others who have AIS.
No, but they’re both types of genetic conditions that affect sexual development.
People with androgen insensitivity syndrome (AIS) are genetically male. But they may have female genitals or a combination of male and female genitals. The condition can cause a variety of challenges, from gender identity issues to infertility. It’s important for people with AIS to stay in close communication with their healthcare providers and form a strong emotional support system.
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Last reviewed on 06/23/2025.
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