Androgen insensitivity syndrome
- PAIS (Partial androgen insensitivity syndrome).
- Grade 2 (PAIS) - there are predominantly male genitals, which are small. The urethra may not end at the end of the penis, but at the underside of the shaft or somewhere else (hypospadia). The child may have undescended (internal) testes (testicles) - known as cryptorchidism.
- Grade 3 (PAIS) - there are predominantly male genitals, however they are very small. Possible hypospadias and internal (undescended) testes.
- Grade 4 (PAIS) - genitals are ambiguous. There may be a penis, but it is impossible to tell whether it is a clitoris or a penis (phallic structure that is indistinguishable between a penis and a clitoris).
- Grade 5 (PAIS) - genitals are essentially female, with separate urethral and vaginal passages. The clitoris may be larger than normal.
- Grade 6 (PAIS) - the genitals are female, and there is pubic and underarm hair.
- Grade 7 (CAIS) - the genitals are female, but there is no (or very little) pubic and underarm hair.
- Inguinal hernia with a testis that can be felt during a physical exam.
- Normal female breast development.
- Testes in the abdomen or other unusual places in the body.
- Genetic testing (karyotyping).
- Pelvic ultrasound.
- Orchidectomy (removing the testes) - women with CAIS are advised to have their testes surgically removed, mainly because they can become cancerous.
- Orchidectomies used to be performed when the child was very young. These days, however, doctors prefer to wait until the girl has completed puberty. The testes can help convert androgen (the male hormone) to estrogen (the female hormone), allowing the girl to develop a normal female body without hormone treatments being required.
- Orchiopexy - surgery to bring down an undescended testis to the scrotum. Boys with hypospadias - in which the urethra does not end where it should, at the tip of the penis - may need surgery to straighten their penis to that they can urinate standing up.Lengthening the vagina - this is done to make sexual intercourse easier. Doctors used to recommend doing this procedure before puberty. Now they tend to wait until after puberty so that the woman can decide whether to have it done. A method called dilation, in which the vagina is gradually widened and deepened with the use of small plastic rods is usually used. Vaginoplasty, a surgical procedure is also possible.
- Clitoris reduction - a woman with PAIS (partial androgen insensitivity syndrome) may decide to have her clitoris surgically reduced, and her vaginal opening enlarged. There is a risk of losing some sensitivity in the clitoris, although losing the ability to reach orgasm is very rare.
- Hormone therapy - this may be required for women with CAIS who have had their testes removed and have completed puberty. They will have to take estrogen supplements to prevent menopausal symptoms, including the developing of osteoporosis (weak bones). Estrogen may also stop them from becoming too tall - their Y chromosome carries genes for extra height.
- Some children with PAIS may also require hormone supplements. Girls who have undergone an orchidectomy (removal of testes) may require a combination of androgen and estrogen to encourage female development. Boys with PAIS may require androgen supplements to encourage certain male features, such as the growth of facial hair and the deepening of their voice.
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