 |
|||||||||||||
|
|
|
|
|
|
|
 |
|||||
|
Note: In the section below, we gratefully acknowledge the pioneering work of the AISSG-UK. The writing on this page has been adapted for use in North America, yet it is primarily from the AISSG-UK’s original text. Did you know... Every fetus, whether of male or female genetic sex, has the capacity to develop either a male or a female reproductive system and in a genetically male (XY) fetus the active intervention of male hormones (androgens) is needed to produce a fully male reproductive system. A female body type with female external genitalia is the basic underlying human form. The Basics of AIS Androgen insensitivity causes an interruption of fetal development of the reproductive system. In AIS the child is conceived with male (XY) sex chromosomes. Embryonic t Tissue androgen sensitivity is controlled by a gene on the X chromosome, and AIS is an “X-linked recessive” condition, either inherited along the maternal line or, in an estimated third of cases, resulting from a spontaneous mutation. A mother who carries the defective gene has a 1:2 chance of any XY child having AIS and a 1:2 chance of any XX child being a carrier like herself. XX individuals can be tested to see if they are carriers. AIS is an example of a biological intersex condition, in which the reproductive organs or genitalia are partly at variance with the person’s genetic sex. This is not the same as transsexuality (gender dysphoria). Types of AIS There are two types; a complete form (CAIS) where the tissues are completely insensitive to androgens and a partial or incomplete form (PAIS) where the tissues are insensitive to varying extents, forming a spectrum of genital appearances. At the CAIS end of the spectrum the external genitalia are completely female (AIS Grades 6 &7) and the sex of rearing is invariably female. In PAIS the outward genital appearance can lie anywhere along a continuum from completely female (Grade 6), through mixed male/female, to completely male (Grade 1) and can vary somewhat between affected siblings. Some PAIS babies may be raised as males. Slight androgen insensitivity may contribute to infertility in some otherwise normal men. CAIS has been sometimes referred to as “classical” testicular feminization, PAIS as incomplete testicular feminization. The complete and partial forms do not occur in the same extended family. Conditions Associated with AIS Androgen Insensitivity Syndrome, Androgen Resistance Syndrome, Testicular Feminization Syndrome, Male Pseudohermaphroditism, Goldberg-Maxwell Syndrome (CAIS), Morris Syndrome (CAIS), Lubs syndrome (PAIS) Reifenstein Syndrome (PAIS), Gilbert-Dreyfus Syndrome (PAIS), Rosewater Syndrome (PAIS). Related XY conditions: Leydig cell hypoplasia, Pure gonadal dysgenesis (Swyer Syndrome), 17 beta hydroxysteroid dehydrogenase deficiency, 5-alpha reductase deficiency, Embryonic Testicular Regression Syndrome. Related XX conditions: Mayer Rokitansky Kuster Hauser (MRKH) Syndrome, Mullerian dysgenesis. The terms male pseudo-hermaphrodite and testicular feminization are now widely considered to be scientifically inaccurate and unnecessarily stigmatizing. Frequency of AIS Estimates vary from 1 in 13,000 to 1 in 65,000 XY births. PAIS may be only about 1/10 as common as CAIS. CAIS Outcomes Even in the complete form (CAIS) there will be no ovaries, fallopian tubes, or uterus, and the vagina will be blind-ending and possibly short or absent. The undescended testes can result in an inguinal (groin) hernia in infancy and this is when the condition may come to light in an apparently female child (~50% of cases). Otherwise, CAIS may not be discovered until puberty as a result of failure to menstruate (primary amenorrhea). Female pubertal development occurs because the testes produce some estrogen, but there will be no menstruation and no possibility of conceiving or bearing children. Some AIS girls may develop some dark, coarse pubic or underarm hair (AIS Grade 6) but this does not develop in true CAIS (Grade 7) because androgen action is needed for its growth. The nipples may remain underdeveloped and pale in color. The vagina may need to be lengthened before sexual intercourse is possible. The older literature sometimes states that girls with AIS are often tall, that the body form is “voluptuously female” i.e., with very adequate breast development, and that the skin maintains a good condition, not being prone to acne (which is linked to the action of male hormones). There is a risk of cancerous changes occurring in the gonads (testes) after age 20, and removal before this time is recommended. Usually this is deferred until the late teens to allow spontaneous feminizing puberty to occur which may have physical and psychological advantages over puberty induced by exogenous (i.e., in pill form) hormones. Although the risk of pre-adult cancer is too small to justify it before adulthood, gonadectomy is sometimes done in infancy or childhood, usually with the intention of avoiding a psychological crisis when the need for an operation later on must be explained. Arguably, this violates the patient’s rights to informed consent and to optimal treatment. Osteoporosis Risks & Hormones When the testes are removed after puberty, immediate long-term female hormone replacement therapy (HRT) is needed to prevent menopausal symptoms and osteoporosis (bone thinning). In the case of gonadectomy in infancy or childhood, HRT is often started at age 10 or 11 in order to initiate puberty. Low bone density appears to be more common in AIS women than in XX women. The cause is not clear. It may be the direct result of lack of androgen effects. Lack of HRT is a risk factor, although some AIS adults have a low bone density in spite of regular HRT. Possibly, this is due to the fact that XY girls with testes have lower estrogen levels than XX girls with ovaries during the years when healthy bone should be laid down. XX girls start producing estrogen at around the age of eight so supplementary low dose estrogen from this age, with or without gonads in place, may be advisable in AIS. Women with AIS are at increased risk of osteoporosis, especially if they have not used HRT continuously after gonadectomy. Consult your physician with regard to supplemental calcium and vitamin D, coupled with weight-bearing exercise to combat osteoporosis. Vaginal Problems Generally the top one-third of the vagina is missing in AIS women but in some cases the vagina may be no more than a centimeter or two in length, or even just a dimple. Clinicians must not overlook vaginal hypoplasia in pubertal AIS patients, because some youngsters discover this by self-examination and can live in fear and isolation with this secret for many years. Failed attempts at intercourse without proper preparation, including dilation, can lead to psychological and physical trauma. Vaginal hypoplasia (in both CAIS and PAIS) can be treated by the non-surgical method of pressure dilation, performed by the girl herself at home. This is best deferred until she has gone through puberty and is sufficiently motivated. It involves minimal risk and expense, and results in a vagina that closely resembles a normal one. In some cases, the Vecchietti procedure, basically a semi-surgical way of accelerating dilation, has advantages. There are a number of plastic surgical methods of lengthening the vagina using skin grafts, sections of intestine, etc. These all have many disadvantages, and should be used only when less invasive treatments have been ruled out. Vaginoplasty in early childhood usually has poor results and should not be done. Surgeons sometimes fail to stress the importance of ongoing dilation in order to maintain a vagina lengthened by surgical means. If the vaginoplasty is not maintained with the use of a dilator or by means of frequent intercourse, severe stenosis (narrowing and shortening by way of scar tissue formation) will inevitably occur. The Reality of AIS Some clinicians and parents, in a misguided attempt to spare the patient an inner conflict, withhold the genetic and gonadal information from her, but most professional caregivers now recommend truth disclosure with psychological support and counseling. Otherwise, many patients will seek diagnostic information via medical libraries or the Internet, bearing the burden alone and in silence. Many will wrestle with perplexing half-truths, or reach worrisome false conclusions. If the parents’ emotional needs and anxieties are addressed first (via psychological support and counseling from professionally trained staff) it will be easier for them to provide effective support to their child. Everyone will feel better if there are no taboos about the subject. Talking, like grieving, is therapeutic, and permits feelings to be confronted and resolved. Pushing the matter under the carpet is just storing up psychological trouble for later. It is important that parents encourage discussion with their child, and actively seek out information on their behalf. Unfortunately, keeping the condition a secret can become more important to some parents than acknowledging their child’s need for emotional support and appropriate clinical intervention. It wastes mental and emotional energy that is better spent in helping the child come to terms with the truth. The rights of the patient to assign meaning and validity to her condition via a diagnosis, and to seek out a support group, must be considered. Meeting others who are affected is vital and is probably the single most useful therapeutic measure. Doctors may have over-emphasized the extent to which the knowledge of their genetic and gonadal status causes lasting distress for AIS women. AIS adults tell us that, in the long term, their XY chromosomes and testes would have been of little material relevance to them were it not for the isolation, sense of freakishness, and stigma which results from an apparent unacceptability of their biological status in the eyes of society – since they have a normal feminine gender identity. Over-emphasis on a CAIS patient’s femaleness with an unwillingness to allow exploration of her very real female deficiencies (infertility, lack of internal female organs, pubic hair, menstruation, and diminished vaginal length) will suggest to her a very considerable anxiety and discomfort on the part of doctors/parents. Preparing the youngster for intimate personal relationships as an adult should be a priority, tempting as it maybe to divert their attention toward substitute goals. In CAIS, the person will look like a girl and problems of psychosexual identity as a biologically determined feature of the condition are unlikely. Leanings towards heterosexuality, lesbianism or bisexuality seem no different from females in general. Copyright AISSG-UK. All rights reserved. Contents may not be reproduced in whole or in part without the written permission of the AIS Support Group.
|
|||||
|
This web site was designed by Cindy in Indiana, and was updated in Sept. 2007 |
|||||
estes develop inside the body and produce androgens, but these male hormones cannot cause male genital development due to a rare insensitivity of the fetal body tissues to androgens. The external genital development continues along female lines, but development of female internal organs is suppressed by a hormone (MIF, or mullerian inhibiting factor) from the fetal testes.