 | ||
|
| |    Androgen Insensitivity Syndrome by Marjorie Greenfield, M.D. reviewed and revised by Marjorie Greenfield, M.D. Androgen insensitivity syndrome is one condition in which a girl doesn't start menstruation when expected. Most girls with complete androgen insensitivity syndrome (or CAIS) have normal breast development and experience a normal growth spurt at puberty. Pubic and armpit hair may be scanty or even absent. The term "complete" means that girls with this condition have no hormonal receptors for androgens, including the hormone testosterone. Girls who have CAIS usually are diagnosed with the condition once they become teenagers and start to seek answers as to why they haven't yet had a period. However, if a family already knows of another relative who has been diagnosed with the condition, parents can ask their doctor to check for AIS at birth. Genetic link Androgen insensitivity syndrome is a genetic condition carried on the X chromosome. This means that it is passed though the mother, who is a carrier of the gene. Sisters and maternal aunts of girls with AIS also may be carriers, meaning they can pass on AIS to their own children. To learn more about genetic testing and other options, family members who may carry the gene for AIS should talk to their obstetrical practitioners or to a genetics counselor before becoming pregnant. Complete AIS Complete AIS is unusual in that the chromosomes, which are XY (or male), don't match the physical gender, which is female. AIS is a genetic condition in which the organs of the fetus that can develop into ovaries or testes (known as the fetal gonads) make male hormones (testosterone), but because the fetus has no receptors for these hormones, her body doesn't "see," or acknowledge, them. It is as if the testosterone isn't even there. When it comes to the development of the female's external genitalia, this "absence" of testosterone isn't a problem; the fetus simply develops female external genitalia. Internally, however, it's a very different story: The fetus does not form a uterus or upper vagina. Some girls with complete AIS show other effects of testosterone's absence, such as clear skin, large breasts, and no body hair. Partial AIS In partial AIS (PAIS), the female fetus shows some response to testosterone (thus the term "partial"). Often girls with partial AIS are born with ambiguous genitalia, where it is not clear at first if the baby is a boy or a girl. If the clitoris is enlarged, it can resemble a small penis, and changes in the labia can make it look like a scrotum. Surgery can be performed to reduce the size of the clitoris, although experts strongly disagree about when--or even if--the operation should be done. (Clitoral surgery in childhood may interfere with sexual sensation later in life, having a potentially dramatic impact on the girl's intimate relationships as an adult.) Sex and AIS Before sexual intercourse is possible, most girls with AIS must have a procedure to deepen the vagina. In general, the best method involves dilation, in which a doctor or nurse teaches a young woman how to use an instrument called a dilator, to put pressure on the inside of her vagina. Most girls start dilation when they feel psychologically ready, usually between the ages of 15 and 20. Over a few months of daily exercises, the vagina becomes deeper and wider, making intercourse possible. Surgical procedures can be used to lengthen the vagina, but surgery typically has more complications than dilation, so it's usually not the best choice for most young women with AIS. Some girls and women with CAIS and almost all of those with PAIS start out with partial obstruction to the vaginal opening and an enlarged clitoris. A fairly minor surgical procedure to open up the external genital area may be required before dilation can be safely started. Clitoral enlargement can be repaired surgically if and when that is desired. To find an AIS expert in your area, ask your doctor for a referral or try the AIS support group listed at the end of this article. Reproduction Girls with AIS don't have a uterus, ovaries, or eggs. This means that not only will they not have periods, but they also will not be able to have biological children. If a woman with AIS and her husband want to become parents, adoption is one option. Alternatively, some couples choose to use in vitro fertilization technology, fertilizing donated eggs with the husband's sperm and then implanting the embryos into a gestational carrier. Risk of cancer Those with AIS should be aware that the internal gonads can become cancerous later in life. Because of this health risk, experts recommend surgery to remove the tissue. In complete AIS, surgery is done after the girl goes through puberty. In partial AIS, the gonads are removed in childhood, since testosterone can lead to masculine changes at puberty, such as clitoral enlargement and the growth of facial hair. Once the gonads are removed--or, in the case of removal at a young age, once puberty is reached--girls with AIS are advised to start estrogen replacement therapy in order to get the hormones that their bodies need. A diagnosis of AIS is understandably distressing for most girls with the condition, and their anguish can last for years. There are layers of issues, from frustration at being different to grief over the prospect of never being able to give birth. Some girls are upset to learn that they have male chromosomes, perhaps worrying that it will make them seem more masculine. Some individuals with this condition feel confused over their gender identity. Parents, too, may go through a grieving process as they adjust to what this will mean for their daughter. Most young women and their families can benefit from psychological counseling to help with this adjustment. Also, if a girl with AIS has an aunt or older sister with the same condition, she may be able to talk to that relative about what she's thinking and feeling. Support groups Girls and women with androgen insensitivity syndrome, and their families, can find terrific support and information at www.medhelp.org/www/ais.
| |  | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| About Us |
Contact Us |
Our Partners Privacy Policy | Ethics | Advertising Policy | Terms of Service © Copyright 2004 The Dr. Spock Company. All Rights Reserved. THIS SITE DOES NOT PROVIDE MEDICAL ADVICE. The information drSpock.com
provides is for educational purposes only and is not a substitute for
professional medical advice. Always seek the advice of your health care
professional if you have a specific health concern. Mention or advertisement
of any product, service, or brand does not constitute endorsement, guarantee,
or recommendation by The Dr. Spock Company. Please read our full
Terms of Service. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
