Klinefelter’s syndrome

[rebekkadg]

I have always had some health issues and have never gotten a good diagnosis for what causes them. So I was reading around the internet today and came across Klinefelter’s syndrome which is where a male is born with a XXY genetic makeup instead of an XY, so there is an extra bit of female in there. The symptoms I experience line up extremely well with the syndrome.

Anyway I have been reading mainly strict medical sites on it as of right now and have noticed a few pages on searches that also try to link it to transgender/transexualism but for some reason I keep getting broken links. I was wondering if anyone else has done any reading on this and can direct me to any reliable sites about it.

[DonnaT]

I don't think there's been a good study on it. I've come across a few trans girls who've mentioned having Klinefelters, but it doesn't seem any more prevalent than those of us with the regular XY genes.

One of the latest stories was in a UK online paper, here

[Julia_in_Pa]

Rebekka,

I'm intersexed and Klinefelter's syndrome is placed under the intersexed umbrella.

Try here; http://www.nlm.nih.gov/medlineplus/k...ssyndrome.html.

Also go to the Intersexed Society of North America here; http://www.isna.org/

These links should assist you.


Julia

[Julogden]

I just took a look at the list of symptoms of Klinefelter's and I had a lot of them when I was a kid: very tall and slender with long legs (I was 6'4" and weighed about 175 at age 14), sparse body hair, small testicular size (both were undescended when I was very young, one eventually descended), low energy level, extreme shyness, attention problems, and very wide hips developed at age 10 or so to the extent that my mother had to buy pants to fit my hips and then she would take in the waist. I never had breast development though, darn it.

That's got me wondering now.

Carol

[Shananigans]

The true diagnosis would be by karyotyping, which is rather expensive. However, when you have genetic testing done this information is shared with your insurance company and some employment agencies. It kind of depends on if the lab sends the claim to your insurance and if that insurance plan is through an employment agency. You could of course pay out of pocket, but most people don't have this luxury. Sharing this information may not be a big deal with Klinefelter's Syndrome, but you may find out more about your genetic profile than you had bargained for...

Let's say you are predisposed to a particular genetic disease called X and you are confirmed to have Klinefelter's Syndrome. Your insurance provider would see that you have Klinefelter's Syndrome and a predisposition for X genetic disease. We know that a predisposition does not necessarily mean that you will actually develop the disease....but, let's say that you do...

In this case, it could be difficult to obtain coverage for the care of your disease...and, depending on your occupation, you may lose your job. So, I would tread VERY carefully. Genetic testing and the sharing of the information is the #1 ethical debate on this subject in the health care industry right now.

There is no causal relationship between Klinefelter's Syndrome and transsexualism...this has been reported numerous time in many different studies. Most MTF TSs have the XY genetic profile. In Klinefelter's Syndrome, you have the extra X chromosome; however, the overwhelming majority of these patients grow up with male identities. This is why breast reduction is a very common practice with these individuals because most find it quite humiliating. The rarity is the TS with Klinefelter's Syndrome and you could probably find a handful of those people. It doesn't mean that it DOESN'T exist, it just means that there are no real correlational and definitely no causal relationships between the two phenomenons.

[Josie M]

Well, Shananigans pretty much said what I was getting ready to say. The only thing I can add is that, if you have Klinefelter's, you will necessarily be born male....and it effects about 1/500 males (1/1000 in the general population). So, it kind of raises the question about there being a correlation to being transsexual. However, as Shananigans said, it's not born out in any studies thus far (at least nothing I've run across).

All that being said, Actress Caroline Cossey is probably the most famous of Transsexuals with Klinefelter's.

[Linda Stockings]

Rebecca, if you really want to get to the "deep articles" for biological sciences on the internet, try using www.scholar.google.com
It gets very in depth fast. I'll see what I can find, but it's not my primary area of expertise.

Hugs,

Linda

[sandra-leigh]

My recollection is that one of the MTF TS's from Winnipeg I know has Klinefelter's. I am not positive about this. One of the intersex conditions though.

Every once in a while I start reading the description and thinking, "Ah yes"... but then I keep reading and say, "Dang, no, no, not that either."

[dilane]

Let's say you are predisposed to a particular genetic disease called X and you are confirmed to have Klinefelter's Syndrome. Your insurance provider would see that you have Klinefelter's Syndrome and a predisposition for X genetic disease. We know that a predisposition does not necessarily mean that you will actually develop the disease....but, let's say that you do...

In this case, it could be difficult to obtain coverage for the care of your disease...and, depending on your occupation, you may lose your job. So, I would tread VERY carefully. Genetic testing and the sharing of the information is the #1 ethical debate on this subject in the health care industry right now.

Hi Shenanigans,

I remember a law being passed (in the US) against genetic discrimination in health insurance, and found info on this gov't web page:

In May 2008, the Genetic Information Nondiscrimination Act (GINA) became law. GINA prohibits U.S. insurance companies and employers from discriminating on the basis of information derived from genetic tests.

Regards,

Diane

[NathalieX66]

I was never diagnosed with Klinefelter's Syndrome.
I was born with undescended testicles.....and yes, I was severely dissapointed when the surgeons put them in the right place when I was 8. Too much baggage in one area, if you know what I mean.

[Kate T]

Hi Shenanigans,

I remember a law being passed (in the US) against genetic discrimination in health insurance, and found info on this gov't web page:

In May 2008, the Genetic Information Nondiscrimination Act (GINA) became law. GINA prohibits U.S. insurance companies and employers from discriminating on the basis of information derived from genetic tests.

Regards,

Diane

Hmm... and companies have been SOOOO ethical about things in the past!

Even more annoying. Company Y takes out a patent for sequencing the genetic code for disease X. They now control all rights to use of that information for the development of diagnostic tests, treatments. Company Y wants to develop the tests itself (the tests are where it will make it's money) so withholds the rights to use that genetic code. Company Y develops a test that has a high degree of sensitivity (i.e. diagnoses LOTS of cases) but low specificity (i.e. MANY of those cases are NOT actually really the disease). Because lets face it, if we make lots of positive diagnosis we can now prescribe lots of treatment for which company Y has a fantastic new drug.
Surely a pharmaceutical company wouldn't construct tests and suppress trials just to sell a medicine to make money. That would be unethical wouldn't it? Did I hear someone say Vioxx?

[Shananigans]

Hi Shenanigans,

I remember a law being passed (in the US) against genetic discrimination in health insurance, and found info on this gov't web page:

In May 2008, the Genetic Information Nondiscrimination Act (GINA) became law. GINA prohibits U.S. insurance companies and employers from discriminating on the basis of information derived from genetic tests.

Regards,

Diane

This is interesting because it still comes up in a lot of our conferences about who owns our genetic information and cases of revoking of licenses. I think the answer lies somewhere in the fine print.

"It forbids insurance companies from discriminating through reduced coverage or pricing and prohibits employers from making adverse employment decisions based on a person’s genetic code. In addition, insurers and employers are not allowed under the law to request or demand a genetic test."

I wonder what genetic code means in terms of actually acquiring the disease later...or, how coverage would be covered that showed tendencies for a pre-existing condition.

A law was passed similarly in the psych world that would prevent discrimination of coverage for the mentally ill. However, the insurance companies quickly devised loop holes...thus, we still have a sh*tty mental health system (IMHO). Loop holes FTW. The bill was passed in 1996 that made it illegal for companies with more than 50 employers to limit annual or lifetime dollar mental health benefits unless they also paid benefits for physical illness. The federal legislation was a good start, but problems remained. Insurers and employers got around the law by limiting the number of treatment sessions for psych problems and charging higher copays/deductibles.

Just one example how laws are bent at the will of insurance companies and employers.

However, I am a person that strongly believes in making your own decisions. But, after working both in a genetic research clinic and in the healthcare setting, I would not get genetically tested unless it was out of pocket. I would possibly consider it if I have a high risk pregnancy, but again...working in these settings have made me take some of these tests for what they are...especially, when you see their short-comings.

[kay101]

As a transgendered person with xxy I can tell you it is rare to have klinefelters and be transgendered but there are documented cases of it. I have been studying my condition for over 5 years. I consider myself an expert on XXY and how it relates to my transgender feeling. I have been in therapy for 1 year and consider myself to be no different than any of my other trans friend in my support group. My body however is very femine. I have small hands, breast devolpment, little body hair and a host of unexplained medical issue they can be related to XXY. I have had a dexascan which bone density and have osteprosis. I have also had a mamogram due to 2 sister with breast cancer. XXY person are 50 times more likely to have possible breast cancer. I also have some some auto immune disorders. I plan to fully transistion to female and will be starting HRT in 1 month. On the bad side have had some blood clotting issues. I will be on blood thinners the rest of my life. Because of this I have had to have tons of different tests done before my docs would ok HRT. Lucky for me I have the very best medical facility in my backyard (Mayo Clinic) I also have all my trans therapy done at the University of Minn.
Here are to links to start you out on your klinefelter research. http://oiiaustralia.com/14825/breakt...male-intersex/. Http://www.hawaii.edu/PCSS/announce/index.html#ks. or search by Iain Mckinley. The Klinefelters Story.