Individuals with AIS are looked after by a specialist team usually lead by a consultant paediatric endocrinologist.
A number of treatment options are available to someone with AIS, including genital reconstructive surgery and hormone therapy. However, psychological support is probably the most important aspect of care.
As children with complete androgen insensitivity syndrome (CAIS) have female genitals, they are usually raised as girls.
For children with partial androgen insensitivity syndrome (PAIS), the decision can be more difficult, particularly if the genitals have both significant male and female characteristics. The specialist team together with parents will help with this decision.
If your child has PAIS, you should receive advice from medical specialists and psychologists about your child's future development and the gender they are most likely to identify with. This is through the regional specialist team (disorder of sex development team).
Most children with PAIS stay with the gender they are assigned as a baby. However, some decide this does not represent who they are and change their gender in later life.
Genital reconstructive surgery
Some children with PAIS need reconstructive surgery on their genitals. Surgery is not usually carried out before the child is one year of age. The specialist team responsible for the child's care will advise parents about the optimum time of surgery for their child.
Removal of the testes
It is recommended that girls with CAIS have their internal testes removed by early adulthood because there is small risk (less than 5%) of a tumour developing, which could become cancerous.
The operation to remove the testes, known as an orchidectomy, used to be carried out at an early age, but many experts now recommend leaving the operation until the girl has finished puberty (sexual maturation).
This is because the testes can help convert androgen to oestrogen, so the girl can develop a normal female body without need of hormone treatments.
Boys with PAIS can have surgery to move their testes into their scrotum (orchiopexy), and to straighten their penis so they can urinate standing up (hypospadias repair).
Vaginal lengthening
Some women with AIS decide to have vaginal-lengthening procedures to make sexual intercourse easier.
In the past, this was carried out before puberty, but doctors now usually recommend waiting until after puberty. This allows the woman to decide whether she wants the procedure and which particular procedure to have.
The vagina can be lengthened using a method called dilation, which involves gradually widening and deepening the vagina using small plastic rods. Another option is a procedure called a vaginoplasty.
Women with PAIS can also have surgery to reduce their clitoris and enlarge their vaginal opening. The operation may make the clitoris less sensitive but achieving an orgasm should still be possible.
Hormone therapy
Women with CAIS who have been through puberty and had their testes removed will need to take a supplement of the female sex hormone, oestrogen. This will prevent them developing menopausal symptoms and weak bones (osteoporosis).
Women with CAIS tend to be tall because their male Y chromosome carries genes for extra height. Oestrogen can also be used to help regulate the growth of the woman's bones during puberty and prevent them growing excessively tall.
If the testes are removed during infancy or childhood, hormone treatment is usually started at 10 or 11 years of age to initiate puberty.
Children with PAIS may also need to take hormone supplements. Girls with PAIS who have their testes removed may need a combination of oestrogen and androgen to encourage female development during puberty.
Boys with PAIS may need androgen to encourage certain male characteristics, such as the growth of facial hair or deepening of the voice.
Psychological support
Psychological support is probably the most important aspect of care, both for someone with AIS and their parents.
If your child is diagnosed with AIS, you should be offered psychological counselling. A diagnosis of AIS can often come as a shock to parents and feelings of shame, guilt, anger and anxiety are common.
Counselling can help you come to terms with your feelings. Talking to other parents who have a child with AIS may also help.
The AIS Support Group (AISSG) can put you in touch with other people affected by AIS. You can call their freephone helpline on 0808 808 3555 or email them at uk@aissg.org.
Sometimes, young children with AIS do not need psychological support because their condition is natural to them.
Parents often wonder when and what they should say to their child about their condition. Many people feel it best to explain the basic facts about the condition to the child as soon as possible. They can then be given more detailed information as they get older and their ability to understand increases.
It is recommended that a child fully understands their condition before reaching puberty. Puberty can be a stressful time and if your child starts puberty without knowing about possible changes they may experience, or the differences between them and their friends, they could find it traumatic.
As a child gets older, they may need psychological support from a therapist who has experience in AIS. A long-term relationship between the child and therapist is recommended so any new issues can be discussed as the child matures.
If CAIS is not diagnosed before a girl has started puberty, it may be difficult for her and her parents. Both should be offered psychological counselling, as well as appointments with a gynaecologist and an endocrinologist (hormone specialist).
In most cases, people with AIS are able to lead normal lives after receiving appropriate care and support to help them come to terms with their condition.
