Androgen Insensitivity Syndrome Complete, also known as Complete Androgen Insensitivity Syndrome (CAIS), is a rare inherited condition characterized by the inability of the body to respond to androgens, which are male sex hormones. This genetic disorder affects individuals with XY chromosomes, typically resulting in the development of female external genitalia and female secondary sexual characteristics, despite having male reproductive organs (testes) internally.
In individuals with CAIS, the body's cells have a defect in the androgen receptor gene, which prevents androgens, such as testosterone, from binding to the receptors and initiating the development of male traits during prenatal development. As a result, affected individuals are typically raised as females due to their external appearance.
Typically, those with CAIS have a normal female reproductive tract, which includes a uterus and fallopian tubes, but no ovaries. Additionally, affected individuals do not undergo menstruation and are infertile. The syndrome can vary in its manifestations, with some individuals having minimal external differences from typical females, while others may have features such as reduced pubic and underarm hair, absent or sparse breast development, and absent or rudimentary vaginal canal.
Although CAIS individuals typically have a female gender identity and are raised as females, gender identity may not always align with external genitalia or sex chromosomes. It is essential to respect and support each individual's self-identified gender throughout their life. Treatment options may include gonadectomy (removal of the testes) to minimize the risk of cancer, hormone replacement therapy, and psychological support to navigate potential identity and body-image concerns.
