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Description

Androgen insensitivity syndrome (AIS) is a genetic disorder that affects the development of the reproductive system in people with XY chromosomes. People with AIS are born with male chromosomes, but their bodies are unable to respond to androgens, the hormones responsible for male sexual development. As a result, they may have female external genitalia, and may be raised as girls. AIS is caused by mutations in the androgen receptor gene, which prevents the body from responding to androgens. Treatment for AIS typically involves hormone replacement therapy and surgery to correct any physical differences.

Synonyms

• AIS
• androgen insensitivity syndrome
• androgen receptor deficiency
• androgen resistance
• DHTR deficiency
• dihydrotestosterone receptor deficiency
• testicular feminization syndrome
• TFM

Symptoms (patient's findings)

• amenorrhea

Signs (examiner's findings)

• abnormal breast enlargement

Basic Lab Tests (measurements)

• plasma
  •      luteinizing hormone
  •      follicle-stimulating hormone
• serum
  •      testosterone
  •      free testosterone

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: