Talk:Androgen insensitivity syndrome/Archive 1

Note: This page was changed on 9/5/53 by me, a member of the AIS support group (AISSG-USA), who has this condition. The previous information was inaccurate. If you would like to discuss this, contact us at aissgusa@hotmail.com.

Why shouldn't the AIS article be merged with the T Fem article since they both describe the same condition? I think AIS is the preferred term these days-- it certainly has the advantage of being less confusing to people. I suggest leaving AIS as the main article, with a redirect from T fem. I would keep some of the more elaborate T fem formatting and not drop any verifiable info. However I gather from the page history there may be some disagreement and perhaps I don't understand the history of the pages. Comments? Alteripse 19:53, 2 May 2004 (UTC)

Rewrite
Following is most of the former content of the testicular feminization pages and AIS page before my rewrite. I am rewriting the AIS article to (1) combine the 2 pages that previously covered essentially the same condition, (2) to correct a number of minor errors, and (3) to provide fuller coverage and updated material. Comments on the new AIS article are welcome. I incorporated a few items from the old articles. I am "parking" this material here for those who wish to compare with the new article. It may eventually be deleted. Alteripse 18:39, 8 May 2004 (UTC)

(AIS) occurs in persons with the 46XY chromosome complement (karyotype) typical of males, but who are insensitive to androgens (male hormones). There are variations of severity or completeness of the insensitivity related to different mutations of the androgen receptors. Traditionally, physicians have distinguished complete insensitivity (which results in an entirely female body and was called testicular feminization for many years) from partial degrees of insensitivity characterized by varying degrees of incompleteness of virilization. hich affect development of the genitals.

In complete androgen insensitivity syndrome (CAIS), the body is completely unresponsive to androgens and develops as female in external anatomy. Internally, the uterus and fallopian tubes are absent and the gonads are testes, not ovaries. The vagina varies in depth from roughly 2/3 normal depth to a short dimple, but can usually be lengthened by non-surgical stretching enough to be adequate for sexual intercourse. Individuals with CAIS appear as girls at birth and invariably grow up as girls. As adults they are usually heterosexual, sexually active, women.

In partial androgen insensitivity syndrome (PAIS), the external anatomy can be similar to that seen in CAIS, only with slight clitoral enlargement, or it can be more masculinized with in-between or "ambiguous" genitalia. There is also a form called minimal androgen insensitivity syndrome (MAIS) where the external anatomy is normally or nearly normally male, but the forms that are closer to female in external anatomy are more common.

At puberty, individuals with CAIS do not menstruate because they have no uterus. They remain completely infertile throughout their lives. Breast development is as typical for women, sometimes tending towards over-development. Pubic and armpit hair may be absent or very scanty, and acne seldom develops due to absence of androgen effects. The body form is typically female, averaging slightly taller than the average woman.

In PAIS, pubertal effects are similar, with feminization (breast development), except that there are also varying amounts of androgen effect (virilization), although always less than what occurs in typical males. In those close to typically female in external anatomy, puberty is mainly feminizing, usually with no more androgen effect (pubic and armpit hair) than is typical of women.

See also: intersexual

&#12450;&#12531;&#12489;&#12525;&#12466;&#12531;&#19981;&#24540;&#30151;

Definition
Testicular feminization is a syndrome in which a person has one X and one Y sex chromosome (making them genetically male), but is resistant to androgens (male hormones). As a result, the individual has some or all of the physical characteristics of a woman, despite having the genetic makeup of a man.

The syndrome is divided into two main categories: complete and incomplete. Complete testicular feminization results in someone who looks outwardly female. In the incomplete testicular feminization syndrome, the degree of sexual ambiguity varies widely from individual to individual.

Causes, incidence, and risk factors
The syndrome is caused by various genetic mutations on the X chromosome. The mutations make a developing male baby unable to respond to androgens. (Androgens are responsible for male physical characteristics.)

If the androgen insensitivity is complete, this prevents the development of the penis and other male body parts. The child is born appearing to be a girl. The complete form of the syndrome occurs in as many as 1 in 20,000 live births.

Different degrees of androgen resistance can result in a wide variety of outward symptoms. Incomplete testicular feminization can include other disorders, such as Reifenstein's syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome), which is associated with hypospadias (where the opening of the urethra is on the underside, rather than at the tip, of the penis), gynecomastia (breast development in men), and cryptorchidism (when one or both testes fail to descend into the scrotum after birth).

Also included in the broad category of incomplete testicular feminization is infertile male syndrome, which is sometimes due to an androgen receptor disorder.

Symptoms
In its classic form (complete androgen resistance), the person appears to be female but has no uterus, and has sparse armpit and pubic hair. At puberty, female secondary sex characteristics (e.g., breasts) develop, but menstruation and fertility do not.

Complete testicular feminization is rarely discovered during childhood, unless a mass is felt in the abdomen or groin that turns out to be a testicle when it is explored surgically. Most with this condition are not diagnosed until they fail to menstruate or they try to become pregnant and find that they are infertile.

Incomplete testicular feminization, however, is often discovered during childhood because a person may have both male and female physical characteristics. Many have partial fusion of the outer vaginal lips, an enlarged clitoris, and a short, blind-ending vagina.

The individual is often diagnosed because of ambiguous genitalia. Sometimes, though, the person has primarily male characteristics and the only symptom is a low sperm count as an adult, perhaps with breast enlargement.

Signs and tests
Signs may include:
 * vagina present but no cervix or uterus
 * normal female breast development
 * testes in the inguinal canal, labia, or abdomen
 * inguinal hernia with palpable gonad

Tests:
 * Testosterone levels -- in the male range* XY Karyotyping -- the presence of one X and one Y sex chromosome indicates male gender
 * Luteinizing hormone (LH) levels -- high
 * Follicle-stimulating hormone (FSH) levels -- normal
 * Sonogram -- shows an absent uterus or intra-abdominal testes
 * Androgen receptor studies (research setting) may confirm the syndrome

Tests which may distinguish androgen resistance from androgen deficiency (or 5-alpha reductase deficiency):
 * Increased basal and hCG-induced testosterone
 * Normal dihydrotestosterone

Treatment
For complete testicular feminization:


 * If testicular tissue is found in the abdomen or in the inguinal canal during childhood, it might not be removed at that time. Once puberty and growth are complete, the testis may be removed because it may develop cancer like any undescended testicle. In addition, gonadoblastomas are cancers that occur almost exclusively in XY gonads of people with abnormalities of sexual differentiation.
 * Estrogen replacement after puberty.
 * Support of gender identity.

For incomplete testicular feminization:


 * Treatment and gender assignment can be a very complex issue, and must be individualized with great care.

Expectations (prognosis)   Return to top Infertility is expected. Otherwise, the outlook for complete testicular feminization is good if at-risk testicular tissue is removed at the proper time. The outlook for incomplete testicular feminization varies greatly depending on the presence and degree of ambiguous genitalia.

Complications
Complications include testicular cancer, infertility, and complex psychosocial issues.

Comments on new article are welcome. I incorporated all of the facts from the old AIS and T fem articles, added much more, expanded some of the coverage, and updated many of the outdated facts.Alteripse 21:17, 9 May 2004 (UTC)

Questionable text regarding surgical assignment...
Potential disadvantages of this course would be the psychosocial challenges to child and parents of the anatomic differentness, the potentially enormous effect on adolescent social development of unresolved sexual identity issues combined with a 1" phallus and large breasts, and perhaps the unfairness of presenting a child in early adolescence with choices dodged as too difficult by parents and physicians 12 years earlier. The greatest appeal of this choice may be that we don't yet know the magnitude or frequency of the potential problems as well as we do for the more traditional choices.


 * These "disadvantages" are much less of an issue than they are often percieved to be, and full sexual development can be delayed as needed by hormonal therapy. Compared to the disadvantages and psychosocial torture that comes with being assigned incorrectly, it is much safer, and ethically responsible to allow the individual to come to terms with their gender identity before it is fixed in stone by surgical and hormonal treatments. Also, its very likely that an intersexed individual would be able to fit normally into either gender role up to and partially through puberty without surgical intervention, as the genitals are rarely exposed or closely examined outside of a locker room or public shower, a situation that can be avoided with some forethought and cooperation from school admininistrators. Unfortunately, the belief that early intervention is necessary is still common, but given that there is evidence to the contrary, I'm rewriting parts of this article to have a POV consistant with actual evidence rather than with superstition and social stigmas about being intersexed. Triona 11:11, 12 Oct 2004 (UTC)

Your rewrite was an unwelcome and discourteous surprise. It has inaccuracies, irrelevancies, and obsolescences, and replaced very carefully considered hard work. Most people here don't take out large chunks of a carefully written article without point by point demonstration of why it needs to be changed, usually after raising the specific points in the talk page. You introduced numerous spelling and a few syntax errors. You added generalities in this already long article that better belong elsewhere. I might suggest two options: (1) look back through this and see if there are any other points you disagree with factually (rather than just thinking you can say it better). List them here and I'm open to improvement. (2) much of your material could be used to improve the godawful intersexual article. I am surprised you chose this one to "improve." I suspect we don't differ much on our recommendations for treatment of this problem but your replacement with what to me is inferior prose (admittedly my opinion) and a few mistakes (outlined below) seemed unnecessary when there are so many articles that really can be improved. I take major offense at your claim that you were removing "superstition" and offered "up to date" info. Please point out exactly what you meant.

Your errors: (1) Contrary to your assertions, there is not a pediatric endocrinologist or pediatric surgeon in practice who is not intensely aware of these issues. There has been a large shift in practice in the last five years. You are out of date. (2) You cannot defend the claim that even traditional (let alone current) management carries a "high risk of surgically assigning a sex inconsistent with gender identity." In fact, the best long term outcome reports from the largest centers (e.g. Meyer-Bahlburg HFL, Migeon CJ, Berkovitz GD, Gearhart JP, Dolzal C, Wisniewski AB. Attitudes of adult 46,XY intersex persons to clinical management policies. J Urol 171:1615-9, 2004.) indicates that most patients with XY intersex conditions (of which intermediate AIS is an example) agreed with assignments made in infancy. (3) It is unproven that "gender identity is independent of physical genitalia, and is largely predetermined at birth." There is a lot we don't know, but both statements are debatable even if the converses have also been debunked. You need to understand the difference between proving a proposition and disproving its apparent opposite. (4) Your cross-cultural assertion about assigning a third gender reveals both ignorance of the cultures, a misunderstanding of the "social categories" you refer to, and sound suspiciously like ethnocentric condescension. Most asian and aboriginal american cultures are conservative, with strongly different roles for males and females. The social roles characterized as "third sex" are chosen as individuals grow up, rather than assigned by parents or doctors and it is naive and presumptuous in the extreme to suggest that a medical team suggest that to such a family. They deserve the same best care we would give any other children. Read the European intersex literature to understand how many of the affected families from asian cultures are even more ashamed and stigmatizing than the relatively "enlightened" western culture you grew up in. If you don't understand the difference between "third sex" social roles and biological intersex conditions, you have no business offering us your opinions as "up-to-date" facts. (4) In at least two places you also seem to not understand the distinction between assignment and surgery. They are not synonymous or inextricably linked processes and modern medical care is quite observant of the difference. Either your understanding or your writing is muddled. (5) Your assertions given above are unsupportable and much more POV than what you replaced. I gave plenty of space and description to the option of delaying surgery, and listed potential hazards as well as potential benefits. There are examples from the 60s of exactly the unpleasant outcome I described. The argument for delaying was given full justice as an increasingly chosen alternative, but we have do not have enough outcome data to support your assertions, which are just your assertions. We will find out the real disadvantages of this choice over the next 15 years, but it is arrogant and ignorant to claim you know them ahead of time. As hard as any alternative may be for you to imagine, your attitude is that of the psychologists and doctors in the 70s who were equally sure they knew exactly what the long term outcomes would be. Your tone of excessive self-righteousness is unpleasant and unnecessary and unjustified POV.

Now, if you have some specific constructive suggestion not already in the article, please offer them here. I put a lot of effort into this and did not appreciate the un-negotiated replacement with inferior writing and gratuitous insults. Thanks for understanding. Alteripse 16:35, 12 Oct 2004 (UTC)


 * Gender issues are a large subject of personal study for me. Yes, my edits were rushed, but that doesn't change the fact that the existing opinions were based on inconclusive research and sloppy science. Yes, there is a personal interest and emotional attachment here, but I believe my position to be based on sound facts - unfortunately, some prominant professionals have an interest in suppressing those facts to maintain their own credability. My personal research angle has been primarily in the area of gender dysphoria. Gender dysphoria is a common complication of early assignment, and as my comments below indicate, occurs much more frequently than advocates of early assignment will admit. I personally suffer from gender dysphoria - while to the best of my knowledge, theres no medical diagnosis of an intersex condition in my case, I'm familiar with a signifigant number of incorrectly assigned intersexed individuals. The psychological trauma of gender dysphoria is unimaginable, and probably results from the tremendous social stigmas and subsequent self-suppression that result from the condition.


 * The reason that many pediatric endocrinolgists and surgeons aren't aware of the unsuccessful outcomes is that that the underlying signs of gender dysphoria are generally ignored, stigmatized, and repressed. Many individuals suffering from gender dysphoria learn early that their condition is socially unacceptable, by as early as 4 or 5, and this leads to development of defensive and suppressive mechinisms that are over time extremely traumatic to the individual, while maintaining the outward appearance that everything is normal. Most of these cases are only followed into early adulthood, and many individuals affected are so ashamed of their condition that they don't seek help until later in life, if at all. Many of these individuals that do seek reassignment later do it discreetly, and this may not be tracked by the normal follow up processes. There are not enough studies of the psychosocial outcomes from birth to death to suggest that early assignment is without problems. Some prominant professionals have made widely accepted claims that early assignment is the right way to go, and that gender identity is learned, but they ignore such cases as that of David Reimer, surgically mutilated at birth by a botched circumcision and reassigned to female. He later sought and obtained reassignment to male, and later killed himself. Ironically, this case was widely cited that gender identity was a learned behavior - completely ignoring the eventual outcome!


 * The idea that gender identity is learned is a myth. While an individual may be socially programed to conform to expectations of a gender role, they cannot be programmed to be comfortable in that role, and the techniques commonly employed in such social programming - such as aversion therapy, amount to brainwashing, and only *suppress* gender identity, not change it.


 * There's been very little to prove that theres a signifigant disadvantage to tenative social assginment with full surgical and hormonal assignment being delayed until the individual can be actively involved in their treatment decisions. Intersex conditions are not themselves life threatening, the right course of action is not entirely clear in infancy, and there are serious ethical considerations to performing life-changing surgeries without an overwhelming benefit to the patient and before the patient is able to give consent for themselves. The major disadvantage most often cited is social stigmatization of intersexed individuals, and this can easily avoided up and partially through adolescence with common sense and forethought - the only way the condition is readily apparent to others up to this point is genital examination. Bathrooms have stalls, so outside of a shower or locker room, this is a non-issue.


 * I'm still writing and will add more to this later, but I'm going to save what I've written before it gets lost ;) - Triona 06:17, 13 Oct 2004 (UTC)


 * Added - Attempts to identify unsuccessful cases of gender assignment are signifigantly complicated by the considerable effort that such individuals will take to conceal their condition and former identity. Individuals that have seeked reassignment are typically very difficult for the medical professionals originally involved to locate, given that it is highly likely that the individual will have by that time assumed a new identity, obtained legal documentation of that new identity, and in many cases, obtained court orders sealing the records that connect the old identity to the new. This means that even if the number of unsuccessful cases and succesful cases were equal, the unsuccessful cases would be several orders of magnitude harder to locate, and therefore are almost certian to be underreporded to a signifigant degree. With all due respect, neither position argued is an entirely accurate picture of the facts, and neither are NPOV - Triona 07:09, 13 Oct 2004 (UTC)

Thank you for letting us know "where you're coming from." Here are some responses to your points:

1. the dominant approach to intersex management formulated in the 60s and early 70s was pushed with exactly your arguments and viewpoint: dissatisfaction with earlier approaches, sympathy for the stigmatized, end to shame, blame our non-understanding society, a plausible and very politically correct and fashionable idea of gender identity (mainly social learning), and a persuasive psychologist arguing for an enlightened and liberal approach. He persuaded the doctors his approach made sense. The doctors had no outcome data for that approach (early irrevocable assignment, rapid surgery to match, and instructions to the family to do everything possible to confirm the chosen assignment and suppress doubts) for many years. This was the approach advocated by liberal academics and "right thinkers" and it held sway with little question until the early 1980s, held sway with some questions but not much change in behavior until about 1997, and began to change with much question in 1997. In all those years the follow-up outcome data were rarely gathered, for a variety of reasons, partly out of mistaken respect for the adolescent sensibilities of the patients, partly because no one wanted to hear that what they had been doing wasn't the best thing, partly because the numbers were so small, and I am sure you can propose some others. The arguments that began to change the procedures were outcome reports, beginning in small numbers and individual cases. I referenced some of these in the history of intersex surgery (incomplete, I will finish) and intersex surgery articles. There is room for much debate about the outcome data. One can find modest numbers of adults with various types of management to support the entire gamut of management approaches listed in this article. You can also criticize with validity the incomplete quality of evidence to support each approach, primarily the problems of selection and ascertainment biases, enormous in this field as you point out. No one interested in these issues denies this, and the published research acknowledges it.

2. Your position sounds to me like "I know or heard of an adult who was born with an intersex condition, had the surgery, has all kinds of identity and functional problems; so that means that that approach should be discarded in favor of a new approach which I am certain will produce better outcomes, and I don't need any more outcome evidence beyond this because I can imagine what terrible things they went through, and if you ask for evidence that this is a better approach the best response I can give you is that I'm really sure I'm right and if you question my opinion you are a bad person pushing superstitious obsolete management, and I reject all your reports of adults who said they were ok with their management because I don't believe them because I can't imagine feeling that way and I can think of all kinds of reasons to reject those reports even though they have been collected with more attempts at balance than the ones I believe." I have caricatured your position but you should still recognize it is essentially a synopsis of your arguments offered so far. I remain unpersuaded that you have added anything worthwhile because this argument is too recognizably similar to the way the last management approach became dominant.

3. Don't preach David Reimer at me. I wrote most of that article. Also, you either know little about the case or are arguing dishonestly when you claim that it was "widely cited that gender identity was a learned behavior - completely ignoring the eventual outcome!" It was widely cited in the 1970s and 1980s. The public expose' of his self-reassignment occurred in 1997. He committed suicide in May 2004. I doubt you can find a single (let alone "widely") citation by an authority of his case to support the learning theory of gender identity since 1997. But don't let facts get in the way of a good self-righteous rant.

4. In other words what you write suggests several reasons you should stop and learn a little more. You don't seem to understand the difference between opinion and outcome evidence (we have few published outcome reports on delayed surgery). You don't seem to understand the difference between pointing out the problems of old management and proving (as opposed to having an opinion) that new management provides better outcomes. You don't seem to understand that the reason the old management gained its dominant position was that it was pushed exactly this way: a politically fashionable theory of gender identity formation, some cases of bad outcomes with old management, a liberal psychologist who was persuasively certain he knew what was best, and a swell of support from liberal opinionmakers who were ready to reject any criticism as obsolete, unscientific, unfeeling, archaic, etc. We've been there done that, and it got us where we are. Management is changing but don't try to tell us that we know yet whether it will produce better outcomes.

5. I am not impressed that because you have gender identity discomfort (or whatever term you prefer) that you have any idea what is the best management for infants with intersex conditions. You have an opinion. Don't call it science. Don't confuse it with outcome evidence. Opinions may turn out to be right, or wrong, or partly right and partly wrong. People make mistakes when they confuse opinion with fact. You do that throughout everything you have written about this. I am glad you are certain you know all the right answers to this topic; those of us who know more are not so certain.

6. You need to learn what NPOV is. I described the known and argued advantages and disadvantages of several management approaches. Each has potential pros and cons. I am less certain than you are that we know how to weigh all those. Your certainty is more POV than my attempt to do justice to several rational approaches. Calling an attempt to do justice to an alternate approach "superstition" is not NPOV. Please use your words according to the accepted meanings or we won't be able to communicate.

7. Don't try to tell us what pediatric endocrinologists and pediatric surgeons think or do. How many do you know?

8. Please explain exactly how you feel I haven't represented the facts correctly. Back it with evidence rather than opinion. Thanks. Alteripse 12:53, 13 Oct 2004 (UTC)

urban legends
Kate please don't remove paragraph. This is a minor but distinctive aspect of this condition that is mentioned nearly every time someone minimally knowledgeable about this condition explains it to someone completely unfamiliar. A reader interested enough to look the topic up might well have heard just such a rumor, and the paragraph connects to the reader's experience and suggests he/she be a bit skeptical. The article repeats none of the specific rumors because they aren't verifiable. In fact, this paragraph was intended to inoculate this article against someone deciding to "improve" it by reinserting whatever version of it they were told. alteripse 10:55, 9 Dec 2004 (UTC)

anon please discuss changes
I think your additions may be based on an erroneous understanding of this condition, or at least make the article less clear to readers. Please explain. alteripse 22:30, 27 Jan 2005 (UTC)

here's a mess:
The article Androgen insensitivity syndrome and the stub Complete Androgen Insensitivity Syndrome seem to be unaware of each other's existence. I don't know whether it's better to redirect CAIS to AIS or to move a bunch of material from AIS (which is a bit long) to CAIS, but either way it should probably be done by the people who've been working on this article so far.

DanielCristofani 01:39, 8 May 2005 (UTC)

Kennedy disease
This article about AIS is great, except that I may suggest to move the Kennedy disease section out and make it an article in its own right, with linkage of course. Why? 1.If I would look for an article on KD, I would look under "Kennedy disease" not AIS. 2.Somebody will do an article on KD or (X-linked spinal and bulbar atrophy syndrome) and it will get messy. 3. Clinically all the other AIS entities can be understood as more or less complete variations on one theme,- KD is so different. 4. KD does not match the definition as set in the first line of the article,- primarily it is a neuromuscular disease.Ekem 17:06, 27 July 2005 (UTC)

Make an article on KD. Copy as much of this text as you want and expand it as much as you want. I would like to leave this brief description here for completeness; we can point to the new article for expanded coverage. Is that an ok compromise? alteripse 17:44, 27 July 2005 (UTC)

That's fine.Ekem 19:24, 27 July 2005 (UTC)