Androgen insensitivity syndrome

Symptoms

What are the main symptoms or characteristics of androgen insensitivity syndrome?

Androgen insensitivity syndrome (AIS) is a genetic disorder that affects sexual development before birth and during puberty. Individuals with AIS are born as chromosomal males (46, XY), meaning that they are genetically male, with feminization (female characteristics) of their sexual organs, a lack of secondary sexual development, and infertility problems. There are three types of AIS: complete, partial, and mild.

With complete androgen insensitivity syndrome, one can expect to see typical external female genitalia, such as a vagina. These individuals do not have internal female organs, such as a uterus. There are typically testes (male internal sex organ) present.

With moderate (partial) androgen insensitivity, there is a range of what one can expect to see. There can be predominantly female, predominantly male, or ambiguous external genitalia. There may be a vagina, enlarged clitoris, small penis, undescended testicles, or hypospadias (when the opening of the penis is not in the typical location).

With mild androgen insensitivity, there is usually male genitalia although males may not develop as fully as their unaffected peers. There is typically infertility, as the decreased androgens cause problems with creating sperm (impaired spermatogenesis).

To learn more about the symptoms of AIS, talk with your doctor or contact a genetic professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

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More Symptoms Content

Are there different types of androgen insensitivity syndrome?

What health concerns should I look for in androgen insensitivity syndrome?

Are there other conditions that look like androgen insensitivity syndrome?

Is there variable expression or incomplete penetrance of the disease?

Can genetic females (46, XX) show signs of androgen insensitivity syndrome?

Are there different types of androgen insensitivity syndrome?

There are three different types of androgen insensitivity syndrome (AIS): complete, partial, and mild. Different changes will have different effects on the severity of the disorder. Some mutations in the AR gene cause the androgen receptor to not work at all. This means that there are no androgen receptors produced at all. Other mutations in the AR gene can reduce, but still retain partial functioning of the receptor. This means that there are some androgen receptors produced and the individual can respond to some hormone (androgen).

Individuals with complete androgen insensitivity syndrome typically have no androgen receptors. One can expect to see typical external female genitalia, such as a vagina. These individuals do not have internal female organs, such as a uterus. There are typically testes (male internal sex organ) present.

Individuals with partial androgen insensitivity have some retained function of their androgen receptors. There is a range of what one can expect to see physically. Individuals can be predominantly female, predominantly male, or have ambiguous external genitalia. There may be a vagina, enlarged clitoris, small penis, undescended testicles, or hypospadias (when the opening of the penis is not in the typical location).

With mild androgen insensitivity, there is usually male genitalia although males may not develop as fully as their unaffected peers. There is typically infertility, as the decreased androgens cause problems with creating sperm (impaired spermatogenesis).

To learn more about the symptoms of AIS, talk with your doctor or contact a genetic professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

What health concerns should I look for in androgen insensitivity syndrome?

The care of an individual with AIS usually involved many specialists, including endocrinology, urology, medical genetics, and psychology. The main health issues that arise in androgen insensitivity syndrome (AIS) result from deciding whether or not to perform surgery and pursue hormone treatment, especially in a young child. In partial AIS, the issue of sex/gender assignment may need to be addressed if ambiguous genitalia is present. In some cases, there can be gonadoblastoma (tumor of the interior sex organ, in this case testes).

Those that are born with complete AIS are typically raised as girls, and identify as female as they grow older. However, there may be gender and identity confusion in cases of partial and mild AIS. Health concerns also involve the psychological aspects of AIS, in terms of the individual and their family, reproductive future, and self identity.

To learn more about the symptoms of AIS, talk with your doctor or contact a genetic professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Are there other conditions that look like androgen insensitivity syndrome?

There are multiple conditions that can look like androgen insensitivity syndrome (AIS).

Females with Mayer-Rokitansky-Kuster-Hauser syndrome have partial or complete absence of the following sex organs: vagina, cervix and uterus.

Hypospadias (opening of penis on the underside rather than the tip), undermasculinization (lack of male characteristics) of the external genitalia (sex or reproductive organs) and pubertal undervirilization (underdevelopment of male characteristics) are findings in many syndromes that are unrelated to AIS.

Infants born small for gestational age (that are 46,XY and genetically male) can also have some features of partial AIS.

To learn more about other diagnoses similar to AIS, talk with your doctor or contact a genetic professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Is there variable expression or incomplete penetrance of the disease?

Variable expression means that some individuals may present with more severe symptoms than others. Some variable expressivity has been seen with different genetic changes or mutations in the AR gene, however it is unclear if this is due to mosaicism (not every cell in that individual is affected) or if it is due to other underlying genetic factors.

Penetrance refers to how many people who inherit a genetic condition show the signs and symptoms of that condition. Not enough data or has been collected to examine the penetrance of the disease.

To learn more about variable expression and penetrance, talk with your doctor or contact a genetic professional. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Can genetic females (46, XX) show signs of androgen insensitivity syndrome?

Androgen insensitivity syndrome (AIS) is a genetic disorder that affects sexual development before birth and during puberty. Individuals with AIS are born as chromosomal males (46, XY). This means that they are genetically male, with an X and a Y chromosome, but have female characteristics (feminization) of their sexual organs. These individuals also do not experience secondary sexual development. Typical secondary sexual development in individuals without AIS includes enlargement of the breasts in females and facial hair in males. Individuals with AIS also experience infertility problems.

AIS usually only affects chromosomal males; however chromosomal females (46, XX) can also show some signs of AIS. If females have a change or mutation in one copy of the AR gene they may show symptoms. When this happens, it is called being a 'manifesting carrier'. Symptoms in manifesting carriers are typically mild and include sparse pubic hair or delayed growth of pubic hair. About 10% of females who have a mutation in one copy of the AR gene will be a manifesting carrier.

Manifesting carriers are the result of random X chromosome inactivation. Females usually only require one of their X chromosomes to be active. The body shuts off or inactivates the second copy. This occurs in each cell, however the copy that gets inactivated in each cell is random. This means that some of the cells or tissues of the carrier are only using the copy of the AR gene with the mutation.

To learn more talk to your doctor or a genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1429/#androgen.Summary

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