Androgen Insensitivity Syndrome - CMC

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Urology Gynecology

Androgen Insensitivity Syndrome is a group of male hormones that play a key role in the development of male reproductive tissues and secondary sexual characteristics. In females, androgens are produced in small amounts by the ovaries and adrenal glands.

About 1 in 20,000 people with a male XY chromosomal pattern have the unusual illness known as androgen insensitivity syndrome (AIS). A genetic abnormality that inhibits the body from adequately responding to androgens causes it to happen. People with AIS could have male sex chromosomes yet grow female external genitalia or ambiguous genitalia.

Complete, partial, and mild AIS are the three primary categories. Individuals with this type of AIS often have feminine external genitalia, and their internal organs are likewise feminized, because in total AIS, the body does not respond to androgens at all. They lack ovaries and a uterus, but they do have testicles, which are often found in the pelvis or belly.

Individuals with partial AIS may have some androgen sensitivity, which causes some masculinization of the external genitalia and partial feminization of the internal organs. Those with mild AIS are more androgen sensitive, and they may have mostly or entirely masculinized external genitalia.

Most AIS patients are identified during infancy or adolescence, when they have not yet developed breasts or begun menstruation. Surgery to repair the genitalia, hormone therapy to trigger puberty and encourage bone growth, and psychological counseling to help people deal with the emotional and social difficulties associated with the illness are all possible forms of treatment for AIS.


Androgen Insensitivity Syndrome (AIS) is a genetic condition in which individuals with XY chromosomes (typically males) have reduced or absent response to male sex hormones (androgens). It results in incomplete or impaired development of male reproductive organs, and individuals with AIS may have external physical characteristics of females or ambiguous genitalia.

Androgen Insensitivity Syndrome can be classified into three main types based on the degree of androgen insensitivity and the appearance of external genitalia: Complete Androgen Insensitivity Syndrome (CAIS): Individuals with CAIS have complete insensitivity to androgens and typically have external genitalia that appear female. Partial Androgen Insensitivity Syndrome (PAIS): Individuals with PAIS have partial insensitivity to androgens, leading to a wide range of variations in external genitalia, including ambiguous or underdeveloped genitals. Mild Androgen Insensitivity Syndrome (MAIS): Individuals with MAIS have mild insensitivity to androgens and may have no apparent physical abnormalities.

The diagnosis of Androgen Insensitivity Syndrome involves a combination of medical history evaluation, physical examination, hormone testing, genetic testing, and imaging studies. Hormone levels, such as testosterone and estrogen, may be measured, and genetic testing can identify mutations in the androgen receptor gene.

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