Androgen insensitivity syndrome

Overview

What is androgen insensitivity syndrome?

Androgen insensitivity syndrome (AIS) is a genetic disorder that affects sexual development before birth and during puberty. Individuals with AIS have one X and one Y chromosome making them genetically male, but they usually self-identify as female and have external female genitals. These individuals also do not grow facial hair or have other external male features during puberty. Individuals with AIS also experience infertility problems.

Androgen insensitivity syndrome occurs because the cells that make up the bodies of people affected with this disorder are unable to respond to hormones that are crucial in the development of male characteristics. These hormones are called androgens. Typically, a male body would be sensitive to these androgens, however in the case of AIS, the body is not sensitive to these hormones and cannot respond as a typical male would. The main androgen is testosterone. There are three main types of this syndrome: complete, partial, and mild. Each of these types has different signs and symptoms.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/androgen-insensitivity-syndrome/overview/2048 • DATE UPDATED: 2016-07-02

References

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