Androgen insensitivity syndrome is a genetic disease where a person’s body is resistant to male hormones, causing them to have female characteristics. It is caused by a defect in the X chromosome and can result in complete or partial androgen insensitivity. There is no cure, but hormone therapy and surgery may help.
Androgen insensitivity syndrome is a type of genetic disease. It occurs when a person has the genes of a male but his body is resistant to androgens, which are male hormones. This resistance to male hormones causes the affected person to have many or all of the outward characteristics of a female. Usually, this disorder is caused by a defect in one of the chromosomes that determines sex: the X chromosome. This defect interferes with the hormones that would normally give a person physical characteristics that are male.
The sex chromosomes, called the X and Y chromosomes, are responsible for determining whether a person will be male or female. When a person has two X chromosomes, they are considered to be female; a Y and an X chromosome, on the other hand, indicate that the individual is male. Genetic gender does not change when a person has androgen insensitivity syndrome and having one Y and one X chromosome still means the person is male. The X chromosome, however, is affected in this case and may not respond fully or at all to androgens. As such, a person may have some characteristics of both male and female or appear entirely female.
There are two types of androgen insensitivity syndrome: complete androgen insensitivity syndrome and partial androgen insensitivity syndrome. With complete androgen insensitivity, the affected person is completely androgen resistant. If so, she usually appears to be entirely female, which includes the appearance of her genitalia. Genetically, however, the patient is male and will lack a uterus and ovaries. Often, children who are born with complete androgen insensitivity are raised as if they were girls.
Partial androgen insensitivity syndrome is characterized by a low level of sensitivity to androgens. The physical characteristics of a person with partial androgen sensitivity depend on the degree to which the affected person is sensitive to androgens. Some people with this condition will outwardly appear male while others may appear female. In some cases, a person with this disorder may also have both female and male physical characteristics.
There is no cure for androgen insensitivity syndrome. Doctors may, however, prescribe estrogen replacement therapy to prevent menopausal symptoms in a patient who is outwardly female. Genital reconstruction therapy may also help in some cases. Often, surgery is used to remove testicles that have failed to descend. Additionally, psychological counseling may benefit patients who have androgen insensitivity syndrome.
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