Please help me learn

[OkieDokie]

Hi all,

I went looking for info on the basics of AIS and ended up here:
http://www.aissg.org/21_OVERVIEW.HTM
which is as much an overview of intersex issues in general as it is about AIS.

I would like for the better informed members of these forums to tell me how accurate and correct this information is considered to be. I'm tired of reading in places like the wikipedia only to be told later that they got it wrong and now I have to unlearn something.

Thanks,

dd

[miriam]

The information on that website is accurate and correct.

Groeten, Miriam

[Kailana]

I will try to make this response as simple as possible.

Many medical texts will refer to medical opinions that were initially used when some conditions were first found. Along the way and as better understanding of genetics and testing standards improved many of those same original assumptions made were not always found to be true.

I probably shouldnt respond to this as its mostly about CAIS, and I am not as well informed as say Miriam is. I will offer an apology as I really do not intend to make assumptions about conditions i am less familiar with. I know more about Turners and Turners mosaicism. Call it my specialty, or main interest.

Turners basically is a good example to use, as it was first Dxd in 1938 when genetic testing was not that great, much later late 50's some of those initial patients were found to be Mosaic Turners, one even 45XO/46XY rather then 45XO/46XX and that opened up even greater understanding about Mosaicism and how it can affect a person. Thing is many times, medical literature will refer to standards used to explain the initial Diagnosis, when the condition was first found, and often forget that there is more recent more accurate information available. Meaning there are many places were you will find information about Turners only affecting girls, fact is, it doesn't.

Now as for the information at AISSG and its accuracy, well its actually pretty good for the most part. There are some information that is not exactly perfect in explaining all possibilities.

Here is an example from the link you provided:

Very rare...
... is a type of intersex condition in which the person actually has a male/female mix at the genetic (sex chromosome) level and at the gonadal level (steps 1 and 2 above). This is extremely rare and very few members of our group are in this situation. The old term for this situation is a hermaphrodite. Note however that a hermaphrodite, in the sense understood by most of society, is a purely mythical creature from ancient literature, one that supposedly has a complete working set of both male and female internal and external organs (such that the individual can, in theory, impregnate itself). This is not humanly possible. Unfortunately medicine took over this literary term in the days before genetics was understood and employed it as a medical term, to refer to these individuals who have both ovarian and testicular tissue internally (an ovo-testis) and who, as a result, can have ambiguous external genitalia. AISSG/org/21overview.htm

now what isnt said, is that a person can have both an ovary and a testes in opposites side of the body, or have both one in an internal position and the other externally ie expected testicular position. Or that a person can have normal testes a pair externally and also have an internal gonad that just happens to also be ovarian. And even rarer there are people like me, who have two complete sets. One set Testicular, the other set Ovarian.
So even though I or other people do not meet the Mythical expectation of having two complete working sets of all anatomy, we do still have both ovaries and testes, and they do not have to be mixed into the same gonad, ie ovo-testes. And medical we are still considered true-hermaphrodites.

Most of the information at AISSG is accurate, but what i have noticed is that some information is not exactly complete at the same time. And to really understand a condition you have to check many many sights, and actual research and actual case studies to find those other possible variations before assuming anything you read is all there is to a condition that has been reported.

[miriam]

Kailana, the best way to change that information is by getting yourself published in a medical journal.

Groeten, Miriam

[Kailana]

I am pretty sure i am out there somewhere, it is highly likely that is. I just don't know where. Now I could be wrong, but honestly, its the timing back when I was born, and medical/health issues at the time afterward's, I only have some knowledge about what was done, and only some knowledge of some of the many hospitals I have been in. I actually suspect I have been in alot more then what I currently know of. i am sure there is gonna be a someday soon, revelation, hasn't happened yet, but well its one of those many things I am still hoping for.

now the other thing, about getting published, is that I actually wouldn't actually neeed to be, there all ready is lots of information out, you just have to know how and where to find it. Getting links to work though is a great deal harder, i tried many times, and for some reason that is one of the few things that didn't work. I think it is the source sight, there is something blocking links from those case studies. I have a few hard copies though that are really interesting reading. Not sure if that would help though.

[OkieDokie]

Have you considered setting up a website? The web lets any of us "be published" so to speak.

[Kailana]

OkieDokie, you just asked me the one question i can deffinately say no too. I am not that computer literate. Thats one of the main reason why i have such a hard time with links, I do not know why the links to those research papers i found off of proquests search engine wouldnt work. I dont have the computer know how, the tech savvy others do. I am pretty good at understanding how applications work and all that, but get totally flustered at times by the some of the simplest problems.

Which just means I am usually ok understanding the easier problems, but when there is an issue with security/secured sights/ protected work, i do not have the know how to figure out whats wrong or to solve the problem.

For Miriam, the thing about AISSG and the information provided there is not that the statements made are exactly false, fact is most of the information is accurate, but at the same time, there is always more information available then just the more commonly accepted and repeated understandings of a condition, There is always variation or people who do not quite fit the expected norms for the standards of a condition, and its often those unusually rare people who have the hardest time, finding help because some of the things doctors expect to see are not always there. Sometimes there are other issues that affect a person, that is not common to a condition, but that person is still affected by the same condition. The people with the variants within a condition still have the condition just as the others do. They just are affected differently. And that is often not explained by or within most support groups.

Basically any support group that posts standards need to post those variants as well, it would help a whole lot of people understand that there is always some variation, and not every person who has one condition is going to be affected exactly the same as someone else with the same condition. I actually see it the most with Turners information, and am actually happy to see that 45XO/46XY show up now and then, but still there is very little if any explanation provided for people to understand that a person can have a 46XY cell line and a 45XO cell line < that is Turners Mosaicism, and they can indeed be male, just as often as they are female and again thats female with a 45XO and a 46XY Mosaic Karyotype, and along with all that comes those of us who happen to be True-hermaphrodite mixed male and female who again can also be 45XO/46XY. Sorry this is my rant again, my apologies to all reading.

There is nothing worse then to have support groups disclude you from a diagnosis you have had a very hard time learning to live with and accept as the reasons for why I developed the way i did. And that honestly is my only real beef with support groups that choose to post information that is incomplete.

[OkieDokie]

47,XXY has huge variability in expression. This has a bit to do with some would prefer to do away with the "Klinefelter Syndrome" notation as a syndrome is sort of picnic basket full of all sorts of goodies, and we each get only a couple, never all. But "syndrome" implies "all".

Some of those goodies are leftovers from the bad old days of the '60s and early '70s when there was a push in the academic world to prove a genetic connection to crime. So-called studies were conducted in prisons that set out to prove this connection, in the US and the UK. These "studies" have long since been debunked as highly biased, but their conclusions live on. So in the older literature (up through mid '90s, not so old, eh?) you will find the description of KS as "retarded, infertile, criminal tendencies". Even as recently as a month ago, I still hear stories about a pregnant mother whose fetus has been DXed with XXY being told by a genetic counsellor that her son will be retarded, will never live indepently and likely to wind up in jail, best get an abortion. The Merck Manual of Nursing still recommends abortion for XXY under the section on genetic issues likely to cause retardation. (The full text of the Merck Manual used to be online and searchable but apparently is gone now.)

There was a point to this rant... Ah, getting late. One more game of Go than home for me.

[miriam]

The Merck Manual of Nursing still recommends abortion for XXY under the section on genetic issues likely to cause retardation. (The full text of the Merck Manual used to be online and searchable but apparently is gone now.)

This is what the Merck Manual Online Medical Library is saying:

http://www.merck.com/mmpe/sec19/ch294/ch294f.html#sec19-ch294-ch294f-2725


Clinical variation is great, and many 47,XXY males have normal appearance and intellect.

Groeten, Miriam

[OkieDokie]

There used to be a chapter in the Merck in which abortion was recommended for certain chromosomal anomolies because the person was going to be a tremendous drain on the resources of the family and society. Two of the conditions that were listed were XXY and trisomy 21. This was in direct conflict with the chapter on XXY/Klinefelters, which said that a person with XXY was likely to be of normal intelligence. I complained to them about it and never got a reply.

The last time I looked this up to show someone was probably 5 years ago. Google no longer finds a hit on "merck xxy retarded" which was how I used to find it, so either that chapter has been revised/removed, or it is no longer online. I couldn't imagine an organization that would print such blatantly paternalistic advice would have removed it :) so assumed the entire manual was no longer online.

[OkieDokie]

Here's the chapter on retardation and they no longer recommend abortion:
http://www.merck.com/mmpe/sec19/ch299/ch299e.html
However it still lists "klinefelter syndrome" as a cause.

Google did find a pointer to the older Merck reference buried in another website, though that pointer no longer works.

About time...