Androgen insensitivity syndrome, or AIS, is a condition where hormones key in sex development are produced but are ineffective. This may affect sexual development before and after 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 mostly female sex characteristics or signs of both male and female sexual development.
With complete AIS, there are no outside abnormalities and the child appears as a typical female. Internally, there is a shallow vagina, no uterus or ovaries, and testes are present it the abdomen. Despite the presence of testes, most girls with complete AIS identify as female. Partial AIS can have variable impact and the management is unique for each patient. It may present as a typical girl, a typical boy, or on the spectrum in between.
There are genetic tests which can confirm this diagnosis.
Treatment includes facilitating a functional vagina, often by non-operative techniques, and management of intra-abdominal testes which do carry a low cancer risk. In boys with partial AIS, surgical penile/urethral reconstruction may be considered.