Testicular feminization syndrome

Testicular feminization syndrome, also known as Androgen Insensitivity Syndrome (AIS), is a genetic condition where a male is resistant to male hormones (androgens). As a result, the individual has some or all of the physical traits of a woman, but the genetic makeup of a man.

Genetics

Testicular feminization syndrome is caused by various mutations in the Androgen receptor gene. These mutations can prevent the androgen receptor from functioning properly, which makes the body's cells unable to respond to androgens. This lack of response to androgens can impair normal male sexual development.

Symptoms

Individuals with testicular feminization syndrome are genetically male, with one X and one Y chromosome in each cell. However, they typically have normal female external genitalia, a short vagina, no uterus, and no periods. They also have testes, which are often undescended and may be located in the abdomen or the inguinal canal.

Diagnosis

The diagnosis of testicular feminization syndrome is usually made when a girl fails to start her period. Genetic testing can confirm the diagnosis. The testes, which are often undescended, can be detected by a physical examination or imaging studies.

Treatment

The treatment for testicular feminization syndrome is tailored to each individual's needs. It may include hormone replacement therapy to promote female secondary sexual characteristics, psychological support, and, in some cases, surgery to remove the undescended testes, which can become cancerous.

Prognosis

With appropriate management, individuals with testicular feminization syndrome can lead normal lives. However, they are infertile and cannot bear children.

See also

• Androgen receptor
• Androgen
• Intersex
• Sex chromosome disorders

Testicular feminization syndrome Resources
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