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The AR protein (pictured) mediates the effects of androgens in the human body. Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. [1] It affects 1 in 20,000 to 64,000 XY (karyotypically male) births.
- Symptoms
- Causes
- Diagnosis
- Treatment
- Coping
Historically, androgen insensitivity syndrome was known as testicular feminization syndrome. This is because it often was not discovered until seemingly normal females did not undergo menarche. When such girls continued to not menstruate, it was discovered that some of them had testes instead of ovaries. It was not until later that it was discovere...
Androgen insensitivity is caused by mutations in the androgen receptor gene. As such, it is an inherited condition that runs in families as an X-linked trait. That means it occurs on the X chromosome and follows the maternal line. Over one thousand mutations have been identified to date.
The initial diagnosis of androgen insensitivity is usually because of symptoms. Often, complete androgen insensitivity is not diagnosed until puberty. Lack of menstruation blood in combination with normal breast growth and a lack of pubic and underarm hair should cause doctors to suspect CAIS. Lack of menstruation blood can also be the trigger for ...
Individuals with complete androgen insensitivity usually do not need any treatment prior to puberty. The exception is if their testes cause discomfort or if they can be felt in the abdominal wall. After puberty, the testes are usually removed. This reduces the risk of young women developing testicular cancer in adulthood. Women may also need some p...
Individuals with androgen insensitivity generally have good physical outcomes. However, androgen insensitivity can be associated with psychosocial problems. Young people diagnosed with androgen insensitivity may have questions about their gender and sexual identity. They may need support to understand that sex and gender are not as simple as they w...
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.
Androgen insensitivity syndrome (AIS) affects the development of a person's genitals and reproductive organs. The 2 types of AIS are called complete androgen insensitivity syndrome (CAIS) and partial androgen insensitivity syndrome (PAIS). The genitals of a person with CAIS appear female.
Complete androgen resistance syndrome AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body.
Mar 12, 2024 · Androgen insensitivity syndrome (AIS) is when a person who has one X and one Y chromosome (typically seen in males) is resistant to hormones that produce a male appearance (called androgens). As a result, the person has some of the physical traits of a female, but the genetic makeup of a male.
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3 days ago · Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia...
