Talk:Androgen insensitivity syndrome

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archived Talk 2005 and earlier

This article has numerous grammatical errors. If I had the time, I would fix them, but, alas, I put it on someone else.

Contents

[edit] POV issues

1. "and perhaps the unfairness of presenting a child in early adolescence with choices dodged as too difficult by parents and physicians 12 years earlier." (listed as a con for the non-surgical approach)

What about the unfairness of taking those choices away? I see no such ethical musings listed in favor of the non-surgical approach. And how is leaving a descision, difficult or otherwise, to the person you belive has the exclusive right to make it "dodging" it.

2."This most obvious birth defect, somewhat midway between male and female, nearly always leads to referral to a pediatric endocrinologist and a full genetic, anatomic, and hormonal evaluation.

I admit this may not be POV simply on the grounds that the language is so difficult to understand. Somewhere between male and female there exists a most obvious birth defect. What's defective? Is the article talking abour troublesome hypospadias, because thats not limited to Reifenstein syndrome. -Annonymous February 18 2006

Thank you for spelling out your criticisms. Note that I already integrated at least two of your suggested changes. Here are my responses to the above.

  1. Gender is in nearly all cases of normal or abnormal genitalia assigned by parents and doctors at birth. This is simply what is done for your basic baby whose genitalia are either normal or the more common types of abnormal. Most congenital anomalies of the genitalia are simply repaired in infancy. The potential disadvantages of this are clearly stated: some people want to change sex and this may result in everyone involved regretting that surgery in infancy was done or engaging in additional surgery, and many people complain of reduced sexual function. How can it be put more clearly? The delayed surgery choice may be especially appropriate for this middle degree of AIS. It is given more space than the traditional approach, and its putative advantages are mentioned but the potential drawbacks should be also. We dont have much experience with this option yet.
  2. "This most obvious birth defect, midway between..." refers to the most intermediate degrees of AIS (once referred to as Reifenstein syndrome). Among the problems produced by it: micropenis with poor response to testosterone treatment, reduced fertility, urinary problems, inability to engage as readily as desired in the most common types of sexual intercourse desired, parental uncertainty and distress over assignment, social stress, distressing experiences with medical care, etc. These problems are objective and described by the people with the condition, regardless of whether someone else thinks it should be perceived as a problem or not. Management decisions for the complete or nearly complete degrees and the mild degrees are easy in comparison to these. That is why the management options are described for each form separately. I thought it was clear that this section referred to the intermediate degrees, but I will look at the text again and make it even clearer.
  3. Finally, everyone's view on this is a "POV". It is the people who claim not to have one but want to censor the others from the list that are most annoying. Unlike some of the editors on this project, I do not have enough omniscience, prescience, limited imagination, or hubristic certainty to claim that I know which choice is definitely the best. I will clearly state my POV, which is based on substantial experience: there is no such thing as a universal "best" management for all infants and families, only a choice between which potential problems to reduce or accept. Finally, I am not opposed to newer choices and have even recommended them, but I am not naively optimistic that they will prove problem-free-- just different problems. Finally, may I suggest you make an account and help improve the more incomplete articles, of which there are many? It will help your understanding of what goes into this as well as my responses. alteripse 02:45, 20 February 2006 (UTC)


I still find 2 confusing, why not just explain like you did here?

1 is still POV the possible "unfairness" of "dodging" the decision is not contrasted againt the unfairness of taking that descision away. No finger wagging need be done in the direction of the parents and doctors to explain that making such choices may be difficult for an adolescent. It is not an objective fact that it is their descision to make, hence by passing it off to their child they should not be said to be "dodging" it because it is "too difficult", any more than I should go edit it to say that they are stealing it away. There are legitimate arguments to be made for leaving the decision to the patient that have nothing to do with laziness on the part of parents or doctors. Annonymous Febuary 20 12:55 PM

Sorry but in all human cultures, gender assignment and neonatal surgery are decisions entrusted to parents, usually with help of doctors or midwives. It is the nature of human beings and not something that needs to be symmetrically criticized. And the decision about surgery in adolescence is a difficult one to leave to a child-- whether you think so or not. Read again, this is not presented as a reason not to choose this course, only as "perhaps" a potential problem. And also contrary to your claim, I am not insulting, finger wagging, or imputing laziness to the adults who leave it to the child. alteripse 03:03, 21 February 2006 (UTC)


"It is the nature of human beings and not something that needs to be symmetrically criticized."

Why? Because you say so? And since when is so-called "human nature" above criticism? And who said anything about gender assignment? In any event thats not what we're talking about here.

"And the decision about surgery in adolescence is a difficult one to leave to a child-- whether you think so or not."

I would appreciate it if you would please actually read my posts before responding to them, thank you.

"And also contrary to your claim, I am not insulting, finger wagging, or imputing laziness to the adults who leave it to the child."

The article refers to leavin the descision to the child as "unfair" and accuses the parents and doctors of "dodging" it as "too difficult". That is insulting and finger wagging. The possibility that they might see the desision as simply not their's to make is not even mentioned.

Annonymous 10:38 February 21 2006

I will respond to what you write if you do me the same courtesy. The strongest argument that can be made for deferring the decision about surgery is not that we should allow all children to choose whether to have congenital birth defects repaired, nor that we should explicitly encourage all children in early adolescence to confirm their comfort with their sex of assignment and raising. The strongest argument is that as we have better understood the frequency of adult problems after traditional management, optimal management has become less clear, a more difficult decision, and perhaps if we share ownership of this difficult decision with the person most affected, a smaller number of adults will feel they were mismanaged. Some of us who deal with children of that age do not feel that it will be any easier a decision for them than for parents and doctors, and the sentence with its perhaps simply acknowledges that. And perhaps I may be wrong. Note it is not presented as a compelling argument against that course, just as a potential cost or problem. If you can't even understand this concern it reflects badly on your empathy or experience with early adolescents. If you want to censor even this mild reservation it suggests you have the kind of hubristic certainty about these conditions that made it so hard for some people to see or admit the problems with traditional management. alteripse 02:38, 22 February 2006 (UTC)

"Unfairness" is not just a different way of saying difficulty. Accusing someone of "dodging" a descision because it is "too difficult" is not just a different way of saying they "shared ownership of a difficult decision with the person most affected". If you mean that the descision is difficult, stressful, whatever, then put that. If you feel that it perhaps might be unfair, then put that, but as written it treats unfairness as a given outcome that surgery can perhaps avoid.

And please stop trying to tell me what I think.

Annonymous 3:46 22 February 2006

[edit] pubic hair or lack thereof

"Little or no pubic hair or other androgenic hair appears, though no teenage girl ever complains of this to her doctor." What, never? --redfox 15:47, 4 January 2006 (UTC)

The statement is not hyperbolic though if you want to be pedantic I am sure somewhere someone has complained about it, but I have certainly never had a girl with delayed puberty express distress over lack of pubic hair, or an American doctor mention attempting to induce it to grow, nor is doing so mentioned in any of the American or European medical texts on therapy of delayed puberty or hypopituitarism or androgen insensitivity. I do remember an article published by some Greek doctors in one of the European pediatric journals perhaps 20 years ago desccribing a way to induce more pubic hair in girls with hypopituitarism (who often have sparse hair) with testosterone cream, but I have never ever heard an American girl complain about it. So go ahead and change it to "it is nearly unheard of for a teenage girl to complain of this to her doctor" if you would like to cover the remote possibility that someone somewhere might have done so. alteripse 23:14, 4 January 2006 (UTC)


I was once the national leader of the Androgen Insensitivity Support Group. Alterprise, I appreciate the hard work you have done to make this article sensitive and accurate. However, I feel I must add that, as a women with Complete AIS, who has met at least 100 other women with AIS, many of us, especially those of us now in middle age, were deeply distressed over the lack of pubic hair. We were terrified of locker rooms and being "found out." It was and is our "stigmata." And I am also afraid that, at least for me, the tone of the comments about no one ever talking to her doctor about lack of pubic hair, seem flip to me and carry a sting.

In the privacy of the support group, and amongst ourselves, we talk about having felt freakish, and of being terrified what boyfriends and later, hopefully, lovers would think about our lack of pubic hair. In my case, I have AIS Grade 7 on the Quigley scale, which means I have absolutely no pubic hair and no axillary (underarm hair). It is clear when you are intimate with a woman with Complete AIS (CAIS) that this is not someone who is carefully shaving or waxing away pubic hair. Just in the same way that you could tell if a man had no facial hair and no need to shave, you can tell that a woman with AIS simply does not have pubic hair. For many of us, it triggered conversations with lovers that we were simply unable (because we had been lied to and didn't know our diagnosis) to have. I personally feared that anyone I might fall in love with would assume that I was kinky beyond all measure. Remember, I came of age in the 1970s when almost no one in America was removing pubic hair. In fact, in my early 30s, before I came to know of my diagnosis, I tricked my OB-GYN into prescribing Estratest (estrogen and testosterone) for what I untruthfully said was a libido problem. I was trying to grow pubic hair.

You state that no one discusses this with her physician. I submit that, at least for those of us who are now of middle age, it was so shameful that it was something that could not be spoken. There were many of us who were so scared by the shame and fear of having "something" that no one would talk to us about, that we never mentioned anything to anyone--not our parents, not our doctors, not our girfriends and certainly not the man in our life. I was a psychologically healthy 16 year old until I went through being made the center of a medical circus. I then fell into a series of debilitating depression, self-injury and suicide attempts. It has been the hardest struggle of my life to recover from this diagnosis and the cone of secrecy that fell around me. We didn't talk about pubic hair because we didn't talk about anything and no one talked to us--not even our parents and our doctors--the people who were supposed to be caring for us. I compare what happened to us to the equivalent of being medically raped and then forced to be silent about it. That may sound harsh and it may be hard to believe that I am no longer harboring great amounts of anger, but I simply can find no other words to express how I feel about the silence that was imposed on me. I know that everyone around me was trying to do what they felt to be the best for me, but they were simply wrong in their assumption that if I didn't know my diagnosis, I would just stop wondering about it and "get on" with my life. In fact, the silence had the opposite effect.

As an example of what we didn't talk about: I went through almost two years of unsuccessful attempts to have intercourse which was impossible due to severe, in my case, vaginal hypoplasia. I never had the courage to tell anyone and the difficulty eventually destroyed the relationship between me and my boyfriend. (I have gone on to a successful sex life, marriage and motherhood through adoption. I have a good life and feel fully "over" AIS.)

I am no longer active in the support group, I feel like my issues around AIS are resolved. I will probably return again when my young nieces who have AIS are working through their own emotions and need support. While active in the group, I made it a point to work with the young teenage girls who were just learning of their diagnosis. It seems to me that the lack of pubic hair may be less of a problem for these younger women than it was for us. After all, it is now fashionable to be hairless.

I propose that no one, not our parents, not even the most caring of physicians, has any idea of the torment that is going on in the mind of a newly-diagnosed woman with AIS. That truth only comes out in support group meetings when it is only us AIS gals and in completley trustworthy relationships with a truly skilled therapist.

Oddly enough, I have never heard one of us complain of lack of axillary hair, but it doesn't carry the same emotional context of sexual maturity that breast development, menstruation and pubic hair have.

If I hadn't heard the same stories over and over again from so many women with AIS, I would say that this is all POV, but there must be some veracity and authenticity granted to those of us who have lived the diagnosis.

Respectfully, Espanglish (I would normally use my real name as it is already all over the Internet connected with AIS, but now I have young nieces with AIS who don't need to have their privacy violated by my posting my name in connection with this sensitive and difficult issue.)

Thank you for educating us. I am removing the sentence, which you accurately described as flip. alteripse 12:10, 6 May 2006 (UTC)

[edit] celebrity rumors

I think the Curtis, Joan of Arc references are relevant. Mick 19:27 12 Jun 2003 (UTC)

Some people have theorized that Joan of Arc had anorexia nervosa. You will never get enough evidencfe to proove an AIS diagnosis for her, noDNA, no anatomy.Pustelnik 10:46, 9 July 2007 (UTC)
I had to remove this line of info until some more factual basis can be added:
Jamie Lee Curtis, the American actress, is androgen insensitive. Some also suspect that Joan of Arc had this syndrome.
Since Jamie Lee Curtis and her father have at least three times, that I know of, denied that Jamie has this condition, we should really add some sort of proof other than rumors. I'm afraid that leaving this statement is not only potentially libelous, but aslo very inconsiderate. Also there is so much conjecture surrounding Joan of Arc, it really doesn't add anything to the understanding of the condition to put this in without proof.
What FACTS do we have?
Before we add these again, maybe we could find actual evidence and put it on the individual bio pages, then add it here as well, sound good? -Paige 19:29 12 Jun 2003 (UTC)

Will research Curtis now, but my understanding is that she openly has announced that she has this. Mick 19:30 12 Jun 2003 (UTC)

I'll have to find the dates, but I know that on The Veiw and a news interview, she denied it, and her father denied it during a call-in show. Can we please make sure BEFORE we write these things? I just want to be fair to these people. Even if Jamie has AIS, if she's not open about it, it's not our business to out her, you know? Paige 19:38 12 Jun 2003 (UTC)

I was told by my genetics professor that she had this and was, in fact "out" about it. So, inconclusive at this point, I'll leave it off. Never meant to be unfair to her. :oP Mick 19:41 12 Jun 2003 (UTC)

I appreciate that, Mick. And of course I know you meant well, 100%. You were only trying to add new info to the 'Pedia, and if we knew for sure, I think it would be VERY important to show an example of such a person. (It's so weird that no one famous is really out with this condition, you know?) I'll look again to see if I can find a famous name for this article, okay? Let us know if you find anything else on her, too. Thanks! Paige 20:02 12 Jun 2003 (UTC)

Jamie Lee Curtis has apparently openly spoken about having this condition during a debate on same-sex marriages during Arnold Schwarzenegger's time as Governor of California; making a joke that she should be arrested becase she's married to a man. However, I would have thought this rumour would have been started because of her slightly masculine form; ironically, people with testicular feminisation are very feminine. I suppose the general public won't ever know for sure, it's too late for her to disprove it by having children. The more common rumour is that she is intersex, specifically having Kleinfelter's syndrome (47XXY) and has had surgery to remove ambiguous genetelia. I think THIS is what she denies (and it's quite obvious, she looks nothing like someone with 47XXY); I don't know if she has actually specifically denied having testicular femmininisation.--KX36 19:53, 7 May 2007 (UTC)

If she really did, you should have no trouble finding the documentation. In fact, it would be all over the internet news pages as soon as you log on to comcast or gmail or any other ISP that provides celebrity news tidbit. It would be on the covers of the magazines in the grocery check out lanes within a month. In other words, I am absolutely certain you are mistaken. alteripse 01:37, 8 May 2007 (UTC)
It's quite impossible that she is a Klinefelter patient. The presents of the Y chromosome in XXY syndrome primarily causes the clinical presentation, which is a generally male appearance (often micropenis etc). My best guess would be CAIS (former: testicular feminisation) which could epidemiologically be the best guess. Otherwise she could also be an XY-female (SRY mutation), or more rarely a "simple" testosterone biosynthesis disorder patient. Greetings Chbse

In actuality, XXY can be a condition that a phenotypic female has, even fertile. Information upon the female form is rather scarce and medical texts make no mention of it - however it is public (the information). For example, the woman singled out in the olympics for being XXY, who later bore a child. Would this be an XXY who transitioned to female (as they exist), child-bearing would be impossible. I'm certain this is not the only source, but the only one I know offhand. - Sara Zeal December 1st 2007

I doubt any of this really exists. I've never heard of any "female phenotype of Klinefelters' syndrome". Severe hypovirilization in XXY-patients can presumably lead to female gender assignment at birth, but will still remain an infertile patient; considering the associated (almost absolute form of) hypogonatropic hypogonadism and absence of ovaries (in a regular Klinefelter patient: XXY)! A possible explanation for an XXY female with child-baring capabilities can be that karyotypical assessment has been "screwed up". This would mean that the patient can possibly have a (very) low-graded chimaerism: 46,XX/47,XXY (95:5%) for example. I've seen some "screw-ups" in karyotypical assessment in the worlds' first 49,XXXYY patient: only after 6 assessments they found the 49(!) chromosomes lined up.Chbse 13:31, 1 December 2007 (UTC)

[edit] AIS, osteporosis and psychological issues

I would like to begin to work on a section about AIS and osteoporosis. While the issue is certainly not settled, research by Robert Marcus, Charmina Quigley, and quit a few other researcbers are clearly pointing the way toward the belief that reduced bone density is a feature of AIS, not just a result of AIS women defaulting on their HRT. I have multiple sources to support this.

Although there are far fewer studies about AIS and psychological outcome, there are a couple of very interesting studies out of England and in cooperation with both the UK and US AIS support groups that talk of the psychological difficulties experienced by women with AIS.

There is also some interesting work coming out of Harvard and the Boston Eye and Ear Institute about AIs and meibomian gland (eye) disfunction, but since the consequenes of this medical minor inconvenience, I don't think it is worth the effort of developing a section on this.

If I can support these sections with sources, is anyone going to blow a gasket? As a professional writer, and a woman with AIS, I can certainly take criticism and I know that I may not be the most unbiased of writers on this subject, but I will take great care to be as objective as I can be and I will depend on the community to point out where I fall from this standard. OK?

Espanglish

By all means add something about both topics. Would 2-5 sentences on each topic be proportional to the other specific problems discussed in the article? Can you give us a couple of specific references for each? alteripse 02:46, 7 May 2006 (UTC)

[edit] Testicular feminisation

Originally this was the name for AIS and it is still sometimes used. What people think of making a redirect page Testicular feminisation and ading the words "originally known as .. . . ." to the first line of this article?

Yes it should be a redirect, fixed now (there already was one for Testicular feminization, with a z instead of s). --WS 14:45, 3 September 2006 (UTC)

[edit] Mild Androgen Resistance

I find the information you present to be accurate but you fail to explore:

1.) novel and investigational therapeutics for MAIS, including but not limited to, high-dose androgen therapy in effort to increase the level of testosterone to twice the upper limit of normal to overcome resistance at the cellular level in cases of only minimal signalling problems.

I was surprised you did not talk about receptor negative AR-gene defects which are the most deleterious because in these cases, no AR receptors are present, resulting in CAIS. Receptor positive problems indicate receptors are present, but there are binding problems. Within the realm of receptor positive binding problems, there can be difficulties with androgen binding, or difficulties with DNA binding.6 The AR can exhibit reduced affinity for ligands, normal affinity with reduced capacity, or thermolability problems (reduced binding capacity at temperatures above 37 degrees), enhanced ligand dissociation, or modified ligand specificity, the causes of which can include frameshift mutations, deletions, missense and nonsense mutations, expansion of a CAG repeat, and mutations that interfere with splicing.6 For instance, one partial resistance mutation causes a replacement of a glutamine with a lysine residue.1 In partial resistance, defects may stem from point mutations in the steroid-binding domains or DNA-binding domain.

2.) the persistence to essentially categorize MAIS with CAIS by association in many parts of this article. MAIS deserves its own article, and many urologists would strongly disagree with the notion that MAIS (which is routinely seen as "infertile" cases) is the same as woman with CAIS. For a new reading public, there need to be more clear boundaries to indicate these are very different disorders that only share a slightly similar origin, yet as was seen from what I just wrote, the molecular biology of AIS is not simply about androgen resistance...it's highly nuanced and complex. user:Freethyroxine83

General reply. Thanks for the comments. 1. Comments about a specific article content are best put on the talk page of the article where all editors interested in the article can see them. For most articles there is no single author, but for many (including this), a single author did most of the work and may be quickest to respond to suggested changes. 2. Please sign comments on talk pages. I added your signature above-- you can do so more easily by typing four tildes and it will automatically convert that into your signature with a time/date stamp. 3. For the articles that are relatively comprehensive and polished, suggest significant content changes on the talk pages first, especially if it is a fact change from the text. If you make lots of changes in many parts of the text, it becomes harder for another editor to accept some and negotiate others and you may find the whole set of changes reverted pending discussion.

Specific replies about MAIS. 1. I have no disagreement with the specific content suggestions above. When I rewrote this article it was a multiply flawed article about testicular feminization (which you can see in the archive), and I tried to make the spectrum of forms of AIS clear to the reader. Most of the readers of this article have been interested only in the more severe forms, which are covered more comprehensively. If you think that MAIS is insufficiently emphasized, it is a matter of opinion, but suggest some specific changes-- as you probably noticed, I disagreed with the phrasing of a couple of the first comments you offered. 2. Your elaborations about the spectrum of AR abnormalities can certainly be put in the appropriate pathophysiology section. Bear in mind the article is already a large one and some of the medical articles have been criticized as too detailed or less accessible to a general reader. 3. I am not sure about the relative frequencies. At least two of my sources, several years old, suggested that the more severe forms were more common than MAIS, but clearly they are far more likely to be recognized. Can you cite a more recent population survey showing a frequency for MAIS that is not simply a non-pathologic polymorphism frequency (which is what I assume is the challenge to the compiling of such data)? 4. You can certainly write a new article on mild androgen insensitivity syndrome. All you have to do is click on the red link and type away.

A final general note. The medical and biological articles of wikipedia are very uneven. Contributing editors with expertise are welcome. However, editors willing to write new material or fix the worst articles are far more needed than those who simply feel the need to "tweak" the best articles. Please contribute. alteripse 11:12, 19 September 2006 (UTC)

[edit] "birth defect" and other recent changes

Of the recent anonymous changes, some are justifiable ,and some not. Please make an account and discuss. To begin with, what aspect of the definition of birth defect is not completely met by intermediate AIS? alteripse 23:17, 13 December 2006 (UTC)


"Birth defect" is a highly value laden label. Many intersexed persons resent being labelled as defective simply because their anatomy does not correspond to traditional definitions of sexual "normalcy". It is suggested that these labels speak more to social-cultural prejudices than to medical realities. Insofar as the "defective" nature of physical sexual variation has now come into question, it is time that we take up a more neutral and open language, as the debate continues. Thus I propose that "anatomical variation" is more appropriate than "birth defect". One can still argue as to whether the "variation" is harmful or not. 72.1.195.4 22:22, 15 December 2006 (UTC)

And by all your arguments you would call a cleft lip or absence of the ovaries examples of "anatomic variation"? A birth defect is a birth defect, neither more nor less. The term is immediately understandable and perfectly appropriate. "Anatomic variation is euphemistic obfuscation". More importantly I emphatically reject the idea that to acknowledge that an unwanted difference present at birth is an unwanted difference present at birth is to devalue or insult the person who has it. Repeat until you understand: People are not diseases and defects. Repeat until you understand: Having diseases and defects is an inevitable part of being a human being; calling it something different doesn't make it not a problem. For extra credit, review the Aesop's fable of the fox who lost his tail. alteripse 18:53, 18 January 2007 (UTC)

[edit] Cultural References

While there are few references in the media about AIS, I recall an episode of House where a patient had AIS. Also, the debunked idea of Jamie Lee Curtis having it could also be mentioned. —The preceding unsigned comment was added by Eedo Bee (talk • contribs) 14:54, 18 January 2007 (UTC).

I do not think it worth mentioning that a television episode featured a garbled 10- second description of a disease; sorry if you disagree. The celebrity rumor is a more important issue specifically related to AIS. The celebrity rumor factor is dealt with in the article, but I think we need to refrain from specific names unless there has been public confirmation. alteripse 18:41, 18 January 2007 (UTC)

[edit] Location of urethra in CAIS and AIS individuals.

I have a question about the location of the urethra (urine duct) in individuals with CAIS and other forms of AIS.

In CAIS cases, the article makes clear that the individual has no functioning vagina (birth canal), and nothing which even remotely resembles a uterine cervix or uterine corpus (any part of a womb). It also clearly mentions that instead of ovaries, said individual typically has a pair of undescended testes; and that his phallus resembles a normal clitoris.

My question is about said individual's capacity to urinate. Does excretion of urine occur through a duct which is completely separate from the phallus (as it would in a normal 46XX girl), or does it instead occur through a duct which permeates said phallus? Also, if the latter is the case, does it allow for urination while standing?

--I couldn't help but notice how silent the article is on this topic. Pine 05:25, 15 April 2007 (UTC)

I thought the article was pretty clear that anatomy for CAIS was that of a female except absence of uterus and ovaries (which are not part of the urinary system). There is no penis, but a clitoris. The urethral opening is on the perineum anterior to the vagina as it normally is in females. The person is in all respects but the internal reproductive system a normal woman, and you clearly have not yet grasped the nature of this condition if you think of such a person as "he" just because of the chromosomes and gonads. Do you know what your chromosomes are? Would a surprise make you other than you are? Read it again and tell me if you can think of a way we can make that clearer. alteripse 12:04, 15 April 2007 (UTC)

--Thank you for the prompt response!.

I just wanted to make certain that the urethral opening and phallus (hereinafter, "clitoris") were distinct, in CAIS individuals. Since the clitoris is not permeated or impregnated by the urethra, I'll safely assume that urination occurs in an individual with CAIS by either sitting or squatting. The only change I'd suggest making to the article, is one which clarifies the urinary system's appearance; as well as that of the reproductive system.

P.S. In order to avoid having to say something verbose like "the individual's" and "said individual's", I thought it prudent to use the possessive pronoun "his".

In the English language, it is more-or-less settled that masculine pronouns may be used as a default where it is not entirely certain that either feminine or neuter pronouns apply.  :) Pine 23:53, 16 April 2007 (UTC)

Except that everyone with CAIS is a woman. There is no such thing as a "he" with CAIS. alteripse 00:18, 17 April 2007 (UTC)

Forgive for further modifying the paragraph, but I want to keep the intro as brief and clear as possible. Normal is normal and to start listing certain parts as normal implies others are not. alteripse 07:10, 17 April 2007 (UTC)

[edit] AIS ---Possible genetic homology with Drosophila Fly's "ken gene" ?

In the genome of the Drosophila Fly, there is one particular gene which (when deleted) produces offspring with no external reproductive organs. Entomological geneticists have dubbed it the "Ken gene", (after "Ken Carson" of Barbie/Hot Wheels fame). Could the X-linked gene in people which causes androgen insensitivity in gestation be a relic, or at least a derivative, of this gene?

I'm perfectly aware that homology between a vertebrate and an invertebrate species is (to say the absolute least) difficult to establish. Yet, given that there are only an estimated 25,000 genes in the human genome; could this potentially be a starting point to determining how the minute differences in our genetics cause our boldy proteins to react in such a manner that distinguishes us from other living creatures?

So far, the proteomics field is wide open to speculation, and this could possibly lead somewhere. Pine 04:38, 17 April 2007 (UTC)

Homology has a precise meaning when applied to genes and only a defect of the androgen receptor would be a homologous defect. The defect you mention is another example of a disorder of sexual development but is not homologous. alteripse 07:13, 17 April 2007 (UTC)

[edit] GendersInX - A Community Support for People of a Genetic anomaly

Hello;

The purpose of this site is to positively reassure those who have a genetic anomaly to their make up and that they are not alone. It includes Klinefelter's Syndrome, Turner's Syndrome, Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia including all variants thereof. Parent's of children who have any of these are most welcome to encourage each other and exchange notes.

My name is André and I am Klinefelter XXY Mosaic. I have been diagnosed in 1985 at the tender age of 22. I am the creator and administrator of GendersInX. I strive to ensure that all aspects of Klinefelter's, Turner's, Androgen Insensitivity Syndromes and Congenital Adrenal Hyperplasia are addressed and positively reinforced. This site is not meant to be competing with any other site rather it's meant as another option.

The name GendersInX stems from what we have in common, the X Chromosome. Through this X Chromosome, we see so many different variants like some of the X chromosomes have been dropped, gained and stayed the same but definitely does not fit the norm in our society as we now know it. I believe this will change.

This could be a "feel good" site but it's more realistic than that. I know that there are many things that can get us down in life never mind what medications and additional issues we have to deal with. Once in a while, it's good to be reassured that we are doing the right thing, that going on is a good choice, that the feeling of emptiness and wanting is shared and that we are in it together. Friends are forged in terrible times, I'm pretty sure you will find one here. It is important that we can go somewhere and not be judged in what we think and how we cope.

I have provided many forums for the individual conditions and variants thereof. It is also important to address those who feel that they do not belong to a specific gender as a direct or indirect result of these syndromes or conditions, so forums such as gender dysphoria and intersex are provided. Also included are forums for those who need to express thier beliefs as a part of coping with a syndrome. The format in each of those forums are the same with each focused on that particular syndrome or variant thereof. Each of these forums are moderated by a person of that syndrome or condition. You certainly can refer to them or me, as you wish.

Life isn't made from peaches and cream or is flowery by any means. It is, however, nice to relax somewhere where judgment is left on the outside. I hope I can provide that for you and with you.

Sincerely yours,

André GendersInX@Gmail.com www.GendersInX.org (April 25, 2007) —The preceding unsigned comment was added by GendersInX (talk • contribs) 15:50, 25 April 2007 (UTC).

Andre, you do realize that people with AIS do not have a missing or extra X chromosome, dont't you? alteripse 16:02, 25 April 2007 (UTC)

Yes, I realise that and I apologise. GendersInX has gone through some changes in the recent past. One of which is the wording was changed when more has come to light. I would encourage a person with any form of AIS to help dispell some of the myths surrounding all forms of AIS. I would rather learn from the person than to read all the medical jounals.

[edit] Double Carrier?

Forgive my technical medical ignorance, but nothing in the article actually discusses a point about which I wondered and I was hoping one of the learned editors who have worked on the article could clarify the situation. It regards a 46, XX female who has inherited this syndrome from both parents. (Which would logically mean a mother who was a carrier and a fertile father, who thus would have type 5 or 6 of the listed variations of the syndrome.) Is there any current medical information regarding such a hypothetical female? Would she just be a double carrier, with a 100% chance of her children being female carriers or males with some form of the syndrome, or would there actually be some sort of medical issue for her due to the reinforcing of the recessive mutation? Again, I apologize if the answer to this is obvious to anyone with adequate medical training, but I am just a layman who reached this article by a habit of following any links which stimulate my intellectual curiosity and promise to educate me on a subject with which I am unfamiliar. (I am firmly of the opinion that contented ignorance causes many of society's ills and welcome any chance to reduce my own lack of knowledge and understanding.)

Cadrac 00:58, 20 May 2007 (UTC)

As for many questions about human biology, there is a simple answer and a complicated answer. The simple answer is that no XX women who carry 2 defective copies of the AR gene have been described because there have been almost no fertile XY men with even the milder forms of AIS. The complicated answer is that if a mutation affected an XY man so mildly that he was a man able to marry and have sex with a woman and was fertile, even an offspring XX daughter who carried one severe mutation and the really mild one would probably have no clinical effects other than maybe slightly less androgenic hair. alteripse 01:42, 20 May 2007 (UTC)

[edit] CAIS urban legends

This is a patient answer to Asarelah, who removed a section with a gratuitously insulting edit summary, and who has clearly not read the previous discussion on this topic above. I am glad you are so much obviously a better writer than I am and I would be happy to have you point to a well-written article you have contributed. However, until we have verifiable confirmation of a specific celebrity, it is not "better writing" to promulgate a false rumor about a living person even if you link it to a debunking site. The previous content had exactly the same message, that all rumors to date about specific celebrities (and there were others before JLC and will no doubt be others in the future) are unverified and tediously similar. For a reader who has only heard about this year's candidate and intends to add something "hot" here, there was nothing wrong with a general description of this phenomenon (which has been going on since the 1960s, and is perhaps the most interesting "AIS in general culture" aspect of the topic). I am open to a suggestion for improved wording, but nothing you added improved the content, you violated policy, and you removed the broader perspective. And thanks for your polite editing style; it's a pleasure to meet you. alteripse 00:41, 30 May 2007 (UTC)

I called it poorly written because I honestly felt that it really was poorly written, not because I want to insult you. I did not mean to offend, only to improve the article. I am sorry to have angered you, but I really think that this passage is not written in anything remotely resembling the formal tone of an encyclopedia article.

Inevitably, when CAIS is discussed or taught, someone will mention that they have heard from a reliable source that insert name of voluptuous female movie star or celebrity has AIS, as if offering some titillating scandal or memorable illustration. Lack of corroborative evidence never stops a good rumor. I am merely attempting to improve this article by removing what I thought was bad prose and adding a cited link, and JLC is the only celebrity that I can find a with link to prove that this rumor exists about her. Asarelah 00:54, 30 May 2007 (UTC)

[edit] testicular feminization/AIS vs. androgen resistance

The introductory paragraph seems to lump AIS together with androgen resistance syndrome. These were taught as separate topics in my medical school, and the article here later seems to differentiate between the two in terms of partial and complete. I think it might be useful to un-couple these two things in the introduction, since AIS is, as the name states, insensitivity, and massive doses of testosterone (which are sometimes used to "treat" androgen resistance) would have no effect. As I understand it, androgen resistance is more of a partial problem and can be treated. rhetoric 20:02, 3 November 2007 (UTC)

This is just a matter of speach/terminology. Androgen resistance syndrome is the exact same thing as AIS, it just adresses the problems from another POV (resistance as pre-receptor problem vs insensitivity as receptor or even post-receptor problem). Mild forms of AIS, also calles partial AIS (some or more AR-receptor functioning; no relationship to specific receptor mutations) or even Mild-AIS have the same etiology. Treatment in these patients can have devastating effects if receptor functioning is impaired; peripheral conversion of testosterone into estrogens (via aromatase) can lead to (more) gynaecomastia and feminine body development. If treatment is given, I suppose it's for infertility-purposes (as Klinefelter patients in andrology follow up). Chbse 10:02, 15 November 2007 (UTC)

[edit] Conditions not listed (while still being AIS).

I read the page here (the article), and AISSG's page describing various conditions within AIS (they use a different scale) and could not understand where I would fit within the scale, myself.

It seems there is little room, in both medical litterature and support groups, for (non-ambiguous) male-assigned AIS-affected individuals who may or not identify with their assigned sex.

My contention isn't with this, as there is no way I could fault a website that wants itself encyclopedic for not providing support to a subset of individuals. It was just to highlight how this may be overlooked often on the few places that cater to the entire AIS group (or purport to doing so).

My contention really is about how Reifenstein syndrome (the no 3 on the article) and Infertile male syndrome/Undervirilized fertile male syndrome (no 4 and 5 of the article) may leave holes - most notably, an infertile (thus not 5) and undervirilized male (thus not 4), who was born with non-ambiguous genitalia (thus not 3).

AISSG UK, on their support site, contend to address it on their scale as grade 1 or 2, though little information on either of those. Medical texts also have little information on those subsets of PAIS (or MAIS) or very-slanted information (towards male-identifying individuals, not unlike XXY-related information).

This is indeed a personal issue as some may have guessed...I am part of the mentioned subset, undervirilized, infertile, non-ambiguous genitalia, male-assigned at birth and non-male identifying (the gap needs not be only for female-identifying individuals). However I know not to be alone in this category and feel there is a 'gap' in the article by not mentioning this subset.

I am not attacking any of the previous contributors to the article in this, as the other categories are fine as they are, I just feel this one is missing. I would be hard-pressed to find a 'name' for my condition, besides Partial AIS, because there appears to be none, but I do not want to be accused of appropriating another condition (namely no 2 on the article), and would also like more information myself so as to provide my doctors with valuable information in order to treat me (that is not so vague).

Some information would be that it can (and does often) evade doctor's attention, especially without a known family history of it...for all/most their life, while being visible enough (visibly reduced male puberty, possibly breast growth and infertility - I abhor the term gynecomastia as it is value-laden). If neither breast growth occur, nor infertility verified, then chances are it will not be investigated, and even educated claims (such as mine here) will be dismissed as chance occurance rather than taken seriously.

I am more than willing to discuss this, and maybe even contribute to expanding this article to include or help include this section (by way of researching said topic), however this is not something I could do alone, I also have little experience of Wikipedia editing. Sara Zeal 06:15, 1 December 2007 (UTC)

I've looked closely to the article subsets you mention where you found some possible holes in subset gradations. I know what you mean if you say "holes", but I think we can add a few paragraphs that could clear up any incompletions. To start, "undervirilized" and "non-ambiguous" don't happily coincide in medical terminology, because of contradiction. Ambiguity is a result of (severe) hypovirilization obviously. Used medical terminology in patient research/patient medical records is something that needs attention; some physicians call an isolated micropenis (arbitrary measured: certainly not always micro to begin with) a form of ambiguous genitalia or genital ambiguity. Therefore, not knowing your full medical history (and not in need of; concerning privacy and respect for each other), I would think you do fit in the "4. Infertility male syndrome" because it does not specify absence or presence of any form of undervirilization.

Articles always need input and contribution, so please help out.Chbse 09:33, 2 December 2007 (UTC)


COMMENT:

Whilst excellent for the reader who wants to know a lot about AIS, this article is extremely long and hard to digest for one of its main audiences - the busy physician or medical student. Perhaps we could add an introduction where items are covered more pithily? Thanks. —Preceding unsigned comment added by 78.150.41.238 (talk) 11:49, 20 May 2008 (UTC)

I agree (I've agreed even before you commented :-)). The article has never been easy to read. Sadly, there's never been a real structure. Much info needs to be linked/merged to the intersexuality article. —Preceding unsigned comment added by Chbse (talk • contribs) 15:13, 20 May 2008 (UTC)