Androgen insensitivity syndrome

Disease Overview

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.[3200]

Synonyms

• AIS
• Testicular feminization syndrome (formerly)
• DHTR deficiency
• Androgen receptor deficiency
• Dihydrotestosterone receptor deficiency