47,XXY females documented by pubmed

http://www.ncbi.nlm.nih.gov/pubmed/15755052
http://www.ncbi.nlm.nih.gov/pubmed/1483688
http://www.ncbi.nlm.nih.gov/pubmed/19732585
http://www.ncbi.nlm.nih.gov/pubmed/21540567
http://www.ncbi.nlm.nih.gov/pubmed/20464469
http://www.ncbi.nlm.nih.gov/pubmed/11173857

It is astonishing to me that despite documented cases of women with 47,XXY the various institutions including groups in the USA continue to insist that 47,XXY must only be Klinefelter's Syndrome.  Dr. Klinefelter studied a gendered issue regarding males whom did not feel themselves to be sufficiently masculine.  It was found in the hodge podge of science which uses XXY people as test subjects mostly that there are people whom are assumed to be male whom have womens breasts, a more feminine features or the lack of masculine markers.

It was only recently that OII Australia asked a research group that had never before considered that XXY people could be female if they were only interested in XXY males.  The research group responded with this statement suggesting that XXY and Klinefelter's Syndrome be separated in the light that there are non-male XXY people.   Download 

With the advent of new DNA sequencing systems and the costs falling rapidly I expect we will find far more XXY females in this world than expected.  The lack of knowledge in this regard stems from the lack of genetic testing done on women, and a very narrow view promoted by medical science as an establishment.

Returning to the links posted at the top, as much so I don't lose them as anything else.  It is important to note that current thinking in the origin of the X's from parents has a great deal to do with the gendered identity of the XXY person.  Not to mention the degree of effect of the chromosomes upon the physical appearance of the individual.  This is a rather fascinating topic, right at the cutting edge of medical science.

OII responds to the DSM-V-TR and Diversion into managing hormone levels

The fundamental problem for XXY people attaining medical treatment, especially with the new draft of the DSM-V-TR that was released by the American Psychological Association has been addressed by a document prepared by OII Australia et al see here OII Australia Comment on the DSM5 and SOC7 .

And I support OII in this endeavor, to change the language of the DSM V such that intersex people like all XXY persons have access without the transsexualism mandate and gatekeeper system that exists for people whom are on a different path in their life.  Transsexualism is a journey with an ending for certain people, Intersexualism however is a lifetime challenge for each and every person so affected.

My life is an example of the hell intersex people must deal with when working with medical professionals who cannot think outside the binary, hello, I am not male and not female and ... and I just want to be a normal person like everyone else.  I am not a transsexual, I personally identify as not male, which causes as I have written else where numerous issues with social interaction and expectations.  As an XXY non-male person I use estradiol... and thats all.  It s notable in the world of XXY people that I am fortunate enough to have stood up to medical professionals and insisted on using estradiol.  Found that was all I needed, and haven't looked back since. 

The post below is a comment on a closed forum, in response to a couple of questions about testosterone and estradiol supplementation for individuals XXY.  Although certain closed minded people at the American Psychological Association, whom happen to be involved in the re-writing and pathologizing of intersex people in the DSM-V-TR, there is hope that researchers have begun to recognize that not all XXY people are male.  That XXY and other intersex people are not transsexuals.  And that XXY and all intersex people need normal access to medical treatment which does not assume a sexual binary of male/female; But allows access to male and female, and recognizes the terms Both and Neither also.

--

Yes, precisely. Taking aromatase blockers is the same thing as an estrogen blocker for men, we however we want to be male are not 46,XY. Once a person recognizes what they are not, and begins working towards what they want to be all of this makes more sense. If he needs testosterone to achieve his goal then he needs testosterone. Pushing his testosterone level up even slightly will overcome any amount of estrogens.

Second thought for you, don't bother with non-hormone based supplements, use medically prescribed hormone treatments or nothing. Supplements are meant for normal healthy people who want a little pick me up feeling or placebo; Placebo is a substitute that mimics the act of receiving support and gives the same feel good feeling of achievement, power of the mind and all of that which helps us not at all.

Let me give you a simple example of taking a hormone from the perspective of biology. An average person whom identifies as male, approximately 6 quarts of blood, which when you are measured for testosterone or more specifically %Free Testosterone provides a measurement how much excess testosterone your system is not using right now. Think of the %Free Testosterone as a way of measuring if you need more or less, when is high you could have less, when its low you probably need more. To clarify this we test Luteinizing Hormone (LH) which is the precursor for the testosterone production system of the body and brain. LH goes up when the brain wants more testosterone and down otherwise.
So..
%Free Testosterone low, LH high = Need more testosterone.
%Free Testosterone low, LH low = probably okay.. how does the patient feel?
%Free Testosterone high, LH low = no need for testosterone.
%Free Testosterone high, LH high = Problem! See a Doctor.
Simple right? Well yes and no. First of all, there are a number of issues surrounding testosterone which cause further issues for the patient. One of those is that the patient's natural production of testosterone will be destroyed by taking testosterone, Doctors will not tell you this. Another is that to manage the side effects of testosterone at higher levels than your body is prepared for, you may need additional drugs to counter those side effects.

Anyway don't let me turn you away from testosterone, heck, male and wants to be male, you need testosterone to do it. Just take that conversation back to the main boards where we are not discussing estrogens. Thanks, Onni.

______ Warning: Estrogen discussion continues!

For those who are curious here is how estrogens work for people who identify as not male or female. Women and men (shock!) have about the same amount of blood or roughly 6 quarts. This is important because when you do blood tests for aggregate levels of various hormones it is a percentage of body mass as an expression of the blood quantity, ie. in estimating how much of a drug you need the mass matters. Those using estrogen care about more than just testosterone and should be looking at estradiol, estrone, LH, and testosterone at the minimum. The estrone-estradiol axis is of particular importance in certain cases which I'm not going to go into here.

So..
Estradiol what is high or low? Thats where we have to start because the natal female varies by 300 or more pg/ml on a scale of 30-400 pg/ml a month. Older women who are not on a cycle tend to hover about 35 pg/ml on that same scale. Those lovely words.. in my experience .. a XXY person should be using the baseline estradiol level of about (and it varies by person!) 120 pg/ml (0-400 pg/ml scale), testosterone level less than 50 ng/dl (0-1000 ng/dl scale), Luteinizing hormone level under 6 (0-70 scale).

At or below these levels the target is that the individual will meet the minimum requirements of estradiol to lower their LH levels into the normal range and therefore reduce the release of cortisol and other stress causers. The individual will not experience feminizing effects, excepting only that they will not experience age appropriate masculinizing effects of testosterone either. This type of treatment will balance the body and brain's inherent need for balanced hormones. Some variance in levels is expected for each individual, unlike 46,XX females and 46,XY males there is as yet very little actual medical knowledge about 47,XXY people.

Estradiol target is 120 pg/ml or 120/400 30% of the scale.

How you wonder do we intepret estradiol levels... well its more complex than testosterone. The most basic case is estradiol (under 30%) and LH is high, needs more estradiol. All of the other cases, because of how we measure by percentage of blood (ie free and roaming vs used) are actually meant to measure other things related to significant major problems. Because of that they read more like this:
Estradiol high (over 30%), LH low = testosterone low and FSH high = Contact medical center for full blood work up and metabolic panels.
etc...
This is not because there is something wrong but rather because the estradiol system is way more complex than testosterone, and all of the tests surrounding it are designed for significant issues. Think of estradiol as the hormone that drives (in conjunction with many others) the body and brain and every single cell included. Testosterone works by supplementing estradiol at certain specific tasks, as do a number of other hormones. So you do really need someone who knows how the whole system works to manage estradiol, typically the endocrinologist. However, what I have just written here is out on the bleeding edge of medical knowledge, and most endocrinologists are decades behind. Good luck with that.

Transsexualism might well be Genetic

http://www.ncbi.nlm.nih.gov/pubmed/18962445

Now isn't that just fascinating. Not only because the funding is available to look into why Transsexuals are the way they are, but also they number 1/10th of the comparable intersex population, or less; Far less. And yet they get all the funding, the studies, the time spent determining why they exist. Frustrating, it is.

How about we determine the genetic basis of the known intersex conditions like XXY?

Personally I believe that when they get around to studying the genetic level of XXY, it will devolve the entire conversation about XXY people being male and the researchers know that. Which would cause some issues, if not out right problems with the recommended treatments for this entire class of people. Not to mention the civilsuits for using the class of people as live test subjects for male and female subject drug treatments.

But what can we hope for?

Onnineko

I reject the Klinefelter's Diagnosis

Specifically:
I have 47 chromosomes, called 47, XXY or just XXY, however I reject the notion that I must be male.


Line by line if I must, that diagnosis was clearly made for individuals whom believe they are male, or whom are male identified. Unfortunately, I am not male identified. Trying to force me to live in a square little box just isn't going to happen, not only do I not understand males (really its frustrating, males can make so little sense), but often I complete miss their entire point. They find it upsetting, much like dealing with their wives I imagine, and so do I.

Lets start with what is published:

http://men.webmd.com/tc/klinefelter-syndrome-topic-overview

Klinefelter Syndrome - Topic Overview

What is Klinefelter syndrome?

Klinefelter syndrome is a genetic disorder that affects males. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Most males have one Y and one X chromosome. Having extra X chromosomes can cause a male to have some physical traits unusual for males.
Many men with an extra X chromosome are not aware that they have it, and they lead normal lives. Males who have Klinefelter syndrome may be described as XXY males or males with XXY syndrome. Klinefelter syndrome occurs in about 1 out of 1,000 males.

What causes Klinefelter syndrome?

The presence of an extra X chromosome in males most often occurs when the genetic material in the eggs splits unevenly. But it can also occur when the genetic material in the sperm splits unevenly.

What are the symptoms?

Many men who have Klinefelter syndrome do not have obvious symptoms. Others have sparse body hair, enlarged breasts, and wide hips. In almost all men the testicles remain small. In some men the penis does not reach adult size. Their voices may not be as deep. They usually cannot father children. But they can have a normal sex life.
Some boys with Klinefelter syndrome have language and learning problems.
See a picture of a male with Klinefelter syndrome .

How is Klinefelter syndrome diagnosed?

Klinefelter syndrome usually is not diagnosed until the time of puberty. At this point, the boy's testicles fail to grow normally and you may start to notice other symptoms.
To find out if your son has Klinefelter syndrome, your doctor will ask questions about his past health, do a physical exam, and order a chromosome test called a karyotype.
Klinefelter syndrome can be detected before birth (prenatally) through genetic tests on cells collected from amniocentesis or chorionic villus sampling (CVS). But this is not routinely done.
In adult men, lab tests in addition to a karotype may be done, such as hormone tests or a semen analysis, if Klinefelter syndrome is suspected.

How is it treated?

Males with Klinefelter syndrome can be given testosterone, a hormone needed for sexual development. If treatment is started around the age of puberty, it can help a boy have more normal body development.
Testosterone is given by injection or through a skin patch or gel. The treatment usually continues throughout a man's life but does not help infertility.
Speech therapy and educational support can help boys who have language or learning problems.

How can you help your son?

If your son has been diagnosed with Klinefelter syndrome:

• Recognize your feelings. It is natural for parents to feel that they have done something to cause Klinefelter syndrome. But this condition is a genetic disorder and was beyond anyone's control. Allow yourself time to deal with your feelings, and talk with your son's doctor about your concerns.
• Educate yourself about the disorder. The common problem for parents is fear of the unknown. Educating yourself will help you learn how to help your son.
• Support your son. Provide education appropriate for his age about Klinefelter syndrome and give him the emotional support and encouragement he needs. Remind him that most men who have Klinefelter syndrome go through life with few problems.
• Be actively involved in your son's care. Talk with your doctor about his treatment. If counseling for behavioral problems is needed, or if your son has difficulty reading or has poor verbal skills, get help from qualified professionals who have experience working with boys who have Klinefelter syndrome.
• Encourage your son to take part in activities to improve his physical motor skills, such as karate, soccer, basketball, baseball, or swimming. For more information, see the topic Physical Activity for Children and Teens.
• Work with your son's teachers, principal, and school administrators.
  • Contact his teachers on a regular basis to compare how he is doing at home and at school.
  • When appropriate, let your son be present for talks with his teachers. Use brief notes, telephone calls, and meetings to identify and solve problems.
  • Provide articles and pamphlets to your son's teachers and school principal about Klinefelter syndrome.
• Encourage your son's independence. Although it is important to be supportive, realize that watching over your son too much can send the message that you think he is not able to do things on his own.

___________________________________


Usually I like what is published on WebMD, the material is succinct and fairly accurate, however this article makes it clear that I cannot be among this group. Aside from not identifying as male, that is. Do you notice how focused into men, boys, and words like "your son"; This article is rife with assumptions.

Let me make this perfectly clear, I was born with a perfectly normal body type with an excess of DHT, but not from an excess of testosterone. Because of this issue I was affected in various negative ways such as I felt ugly amongst the female population. And it is a great hardship to me that despite seeking professional help they only ever point at this doctrine and claim I *must* somehow despite all sanity be something I cannot be. Doctors are insane, perhaps? Or merely stupid.

Looking at the symptoms and I'll add a few more since the article missed some of the more of telling ones:

• have sparse body hair

Check.

• enlarged breasts

I have ordinary, normal, breasts, a B-cup, although I usually do not wear a bra by personal preference.

• wide hips.

Size 40, thats what it takes to get male jeans to fit, fortunately women's jeans usually fit a bit better. It would be depressing thinking I was obese because males get larger from the hips and don't have smaller waists.

• In almost all men the testicles remain small.

Is that what those bumps are supposed to represent?

• In some men the penis does not reach adult size.

I think the penis is overrated, seriously.

• Their voices may not be as deep.

A singing teacher once put it this way, "You have a nice alto, or a tenor most singers would die for."

and

• Leutenizing hormone levels are very high (for testosterone)

False, mine is low, has always been low, don't expect to ever not be low. And I use estradiol, with a normal testosterone level of 15, scale of 0-1000, normal range is 350-800 ng/dl. Yet leutenizing hormone remains low.

• Follicular stimulating hormone can be high (for estradiol)

Low again.

• Testosterone levels are low to very low (under 400 ng/dl, scale 0-1200, normal is 350-800).

Mine were very low, no surprise really, not to mention my testosterone levels have always been in the normal range for women; That is under 55 on a scale of 0-1000 ng/dl.

• Estradiol levels are above male normal levels (over 50 pg/ml on a scale of 0-400)

I ranged from 120-150, scale of 0-400 pg/ml, again the normal range for women.

• Fingers counting the thumb as 0, digit 1 and digit 3 are the same length (indication of low testosterone through puberty).

My skeletal structure belays a certain evident estradiol influence, not neutral as you would expect of someone with a low testosterone.

• Lacking in the common testosterone caused bone spurs and additional bone growth males bear. Otherwise known as a neutral body type.

Completely lacking.

As if somehow I am to be blamed for existing and looking different, hello? I am not and have never been male, psychologically or otherwise. A good portion of my life was spent with people believing I was female, even taking umbrage that I could somehow be anything but female. Women tend to take it quite badly when they believe you are lying to them, about something as simple as ones gender. Not nearly as badly as males, and I have learned to be stealthy, quiet, and hell, deal with it.

DEAL WITH ME

Onnineko

Endocrine Anomalies and the Function of the Liver

Some time ago it occurred to me that the blackouts (caused by ...fructose at a guess), exhaustion (caused by wheat..), abrupt puffiness (some meds I'll never touch again), and a few other issues might have something in common to the brain. So I started researching how the brain is fed, brain food specifically. Which led me to Cirrhosis, the state in which the liver stops functioning and passes toxins to the brain via the now impurity laden blood.

Ooooooooh and the lights snapped on!

What I had to ask causes the liver to function... and of course this was obvious that afore mentioned endocrine system, which doesn't work all that well, if at all. Oh yes, this picture comes clear and it isn't pretty. But...!... the picture is clear for a whole class of people, I just happen to be the pigeon; Impurities of toxins passing through the liver and into the brain, can we say alzheimer's (memory loss). Allow me to draw some lines in the sand, no wait lets not. Could it be that the underlying theme of significant major disease in the USA is caused by the "good living" of the USA and the torture we force our bodies to endure for a lifetime might have some effect on burning out the ability of the liver (used to call this liver disease) to function. My cause was a medication that disagreed with me, and caused nasty side effects. I can only imagine that forcing oneself to eat, breathe, and drink light toxins will eventually burn out the bodies' filter, the liver.

My world has changed to support this loss, so many bits of food and drink must now be ignored and avoided. But then my personal interaction has not suffered blackouts and memory loss since.

Speaking of fun topics I just recently read about this group: http://aiclegal.org/ or perhaps person, who wrote an interesting letter you can find here: http://www.thehastingscenter.org/Bioethicsforum/Post.aspx?id=5406&blogid=140&utm_source=constantcontact&utm_medium=email&utm_campaign=bioethicsforum20110620# . It is certainly the truth that the psychiatrists have no business dictating to me (an intersex person) what gender I can be. Intersex/DSD persons should not be subject to the DSM.

Onni

The Mayo Clinic - and - Onnineko

Thats right I visited the vaunted and hallowed Mayo Clinic. And I'm still in awe, at the complete waste of my very precious time, not to mention a small fortune spent on what amounted to this statement...."Thats right, you should not eat or drink anything with sugar because of the fructose intolerance. So no sugar. And I want you to eat at least 5 or 6 fruits every day." Like, ugh... excuse me oh amazing one, doctor, whatever you call your ebayed degree, but last time I checked FRUCTOSE is the primary sugar in FRUIT. And then there was the other comment... "you don't bleed so there is absolutely no reason for you to take any amount of progesterone. Only women who menstruate should take progesterone with hormone supplementation." What do you say to statements like that, I mean really where can I start? How about the part where if you tested every single person in the State of Minnesota (it was the Minnesota Mayo clinic), the chance of finding even one other person without a measurable level of progesterone (take the test, prove me wrong.. please...) is negligible. And yes, I really do test at no progesterone measurable, its been tested multiple times by multiple labs and most of those labs didn't believe their own results the first 3-4 tests. I had one lab send 5 separate results for three different machines/testers, and three complete repeats of the last test. So like be a good Doctor, since this being the MAYO CLINIC I find it hard to believe you are completely INCOMPETENT. No wait... I'm rapidly changing that opinion, continuing... Explain to me how it is that someone without any measurable level of progesterone, a hormone used in among other parts of the body the Brain, the Muscles, the Bones (calcium synthesis don'tcha know), the major and minor organs, the skin, and other tissues, and um practically EVERY part of the body; How is it that PROGESTERONE IS NOT USED BY NORMAL HUMANS?

Maybe I should be shouting, I wanted to shout, but that would be impolite even to an esteemed and useless Mayo Clinic Doctor who charged me considerably more than a petty fortune for this display of stupidity. Astounded, Awed, Stunned, yes all of those describe my visit to the premier clinic of America. The supposedly best, and brightest, who play Eugenicist games at the expense of their patients. Can I stress enough how thoroughly disappointed I am by the performance and skill of the so-called best of the best?

I can safely say going to the Mayo Clinic is a death sentence.

A Mayo clinic doctor said, "you don't bleed so there is absolutely no reason for you to take any amount of progesterone. Only women who menstruate should take progesterone with hormone supplementation."

Another Mayo clinic doctor said, "Thats right, you should not eat or drink anything with sugar because of the fructose intolerance. So no sugar. And I want you to eat at least 5 or 6 fruits every day."

No question about it, incompetence, the mainstay of doctors at the Mayo Clinic.

People have wondered why I self treat, it is because of gross incompetence in the US medical world. After continuing to research these simple questions I have reached a couple of fairly simple solutions:
1. In the question of fructose, don't eat it. That includes all fruits and most vegetables. Fortunately I can eat several kinds of green leafy vegetables, and since I bothered to actually study this issue can safely answer my own question...that is I will gain sufficient nutrients from the green and leafy vegetables if I am careful to add select other foods while avoiding all FRUCTOSE (the fruit sugar). Pretty scary that I now can answer a question confidently that a Mayo Clinic doctor was unable, unwilling, or incompetent to answer.

2. And in the matter of progesterone, remember I don't have any naturally and everyone else in the state of Minnesota has an ordinary level men and women alike, although women because of their cycle has more for two weeks of their cycle every month, like no kidding... However, since I have none the answer adroitly sought is that Yes I should take a small amount of progesterone, topically, to avoid complications of the liver. And at the same time recognize that I was initially taking too much, and needed to drop the dosage to about 1/10th. A true specialist, should have had little difficulty reaching the same conclusion in far less time and effort in research than I had to invest. Do you wonder why I consider the Mayo Clinic specialist to be completely unwilling, unable, or incompetent?

People go to the Mayo Clinic to die, that is the quality and skill of care. I am extremely disappointed, to have received what amounted to tantrums of a petty child while spending a fortune on what I anticipated to be the best care in the nation.

Extremely disappointed in the Mayo Clinic.

The Relative Age of Two Genders

Its been a while since I last posted and in the mean time I have been busy, well, more or less. Among other topics recently read a book by Louann Brizendine M.D., "The Female Brain", and this has brought to light a question: "What relative age am I as a female and as a male?"

Brizendine had several good points, and clearly elucidates a number of issues which have remained a concern for me. Nothing I have ever tried worked perfectly in the attempt to balance hormones, so we try and try again. At the present I have been cycling estradiol and progesterone, I fear perhaps too much progesterone though. And I wonder if perhaps the progesterone deficiency isn't a hereditary issue, there might be some truth in that. Either way, I have literally no testable level of progesterone unless I supplement, and a little bit does feel better. A question I have tried to resolve before is how much progesterone should I take? Even the Mayo Clinic is silent on that one, depressingly silent.

If I could establish a mean age of Female and of Male, then it shouldn't be too difficult to decipher what my brain thinks it needs in the way of hormone supplementation. Pity I forgot to pick up an operating manual for the Human, what part of this deal includes writing one, I really want to know. Okay not really, but the idea is entertaining.

And then I wonder if perhaps the Male aspect isn't necessary to pursue, if only because high levels of testosterone (for a female) causes the same effects a female experiences acne being my personal pet peeve, but also hair loss, aggression, etc... Nothing there I particularly care for, including the coma part I can't remember it but there's a gap in memory and I'm certain I would have hated every minute.

How does one go about estimating relative physical / brain anatomical age?