Klinefelter's Syndrome

Hi,

I was just wondering if anyone else here knows about or has been diagnosed with Klinefelter's Syndrome? I'm brand new here and don't know if this was ever discussed on another thread.

I was diagnosed with Klinefelter's Mosaic Syndrome by one of the top doctors in the field at the UCLA Genetics Research Center about a year ago. This means that I have two different sets of DNA in my body. One has the regular XY male sex chromosome set and the other has an XXY intersex chromosome set. In other words, I have an extra female sex chromosome (you go, girl!) running around rogue in my body.

I, and everyone else in my family, knew something was a little different and odd about me growing up as a child. Lack of masculine features, social awkwardness and uncertainty about my gender were clear from about 5 years old on. When I learned of my condition (after discovering I was unable to father a child:sad:) it was quite a relief to say the least. It was like my life was blurry before and all of the sudden it came into sharp focus in an "Ohh, that's what's going on" kind of moment.

I know crossdressing is not limited to people with these kinds of conditions and in fact my condition is quite rare with it occurring in about 1/1000 male births. It sure did/does give me peace of mind though.

Thoughts? Thanks for reading.

Cheers,

Elirra

Well I'm glad for you that this diagnosis has given you a new perspective on things, but would/was your view of crossdressing have been very different if you didn't have this condition? Why does it give you peace of mind that your crossdressing can be explained medically? I'm not attacking you, I'm genuinely interested... it's not something I've come across before.

It's great though that some of the other aspects of your life can now be explained and perhaps dealt with, and having all the info is the best situation to be in for your future health as well.

I've never been tested, but I had/have many of the symptoms: weak muscles, taller than average at an early age, less facial and body hair until adulthood, unusually broad hips for a male, microorchidism, undescended testicle on left side-right one eventually descended but is small, small phallus, delay in motor development (didn't walk until quite late as a tot), very introverted and shy, low energy levels, difficulty socializing, attention deficit disorder, math problems.

Carol

I am not a doctor but I would suspect the XY and XXY chromosone set you possess do alter your hormones in ways that none of the rest of XY-types can understand or appreciate. Knowing something is different and being able to understand the science behind it is a way better situation than operating totally in the dark.

Many here, myself included, have expressed the opinion that crossdressing provides a sense of peace or calmness. I am also on Estradiol and that too has greatly increased my "peaceful mind state". This is not only my opinion, my wife agrees 100% with that statement.

How you and your mind react is going to be unique to you and your situation but I encourage you to embrace the peaceful side of CD (and intersex too). I wish you all the best in your continuing journey in discovering yourself.

All my best wishes,
Sandra1746

Elirra: I believe you now have all the information you need although the search engines do fill in the blanks. There are only a few similar
Syndromes involving chromosones while the Harry Benjamin Syndrome involves being born with the other gender's mental wiring. In any event
you have the option of deciding which sex you wish to keep. I know that it's much more difficult to change as you get older assuming you even consider it. In Sweden and Norway doctors catch the problem when the child is very young. As a result the parents are given the chose
to make physical changes before there is a mental conflict. Either way pick whatever makes you comfortable.
Julie

Hi Elirra!

Welcome to the forum!

There would appear to be very little published research on Klinefelter's and transgenderism, so it is difficult to say how it might contribute. In general, I believe that 100% Klinefelter's normally results in a female physical expression, so your lack of masculine features, etc. could likely be a result of having Mosaic Klinefelter's chromosomes.

I found out a couple of years ago that I have the opposite condition - Mosaic Turner's Syndrome! While the majority of my cells are a male XY, a number are XO, only one X (female) chromosome. Pure Turner's Syndrome, 100% XO, also normally results in a female physical expression.

I notice that you live in Ventura County. I'm right across the line in Los Angeles County. So if you want to slip a couple of those extra X's across the border .....

Hugs,
Persephone.

It is good that you and your family know that you have problems, and as long as you are able to deal with it it will make life easier.
Ilook forward to seeing how you get on now that you have joined the forum.

Quote:

---

Originally Posted by Persephone

In general, I believe that 100% Klinefelter's normally results in a female physical expression, so your lack of masculine features, etc. could likely be a result of having Mosaic Klinefelter's chromosomes.

---

Scanning through some reputable sites (e.g., nih.gov), I repeatedly find claims that for regular Klinefelter's, everything is variable except that microorchidism is always present. But I also find one seemingly-researched site that says that even microorchidism is not always present. And for the mosaic version, I see the sites say that the result can include any of the regular Klinefelter's symptoms but that there might not be any visible sign at all, including not microorchidism, and another site phrases it more like that the mosaic cases that do have visible signs are the rarities, only 10 reported (if I interpret the paragraph correctly.)

Thank you all for welcoming me and responding to my post.

@Rachel80 - I find comfort in my diagnosis in that I now know there was more in the works than my own decisions. A scientifically explained extra propensity towards the extra feminine is exactly what I needed to help explain how I feel. Now with the science to suggest my known conclusions. There are no definitive clinical conclusions published, but come on, you have to admit that it's a strong theory.

@Julogden - You should totally get tested. I had all the medical characteristics of this syndrome without the diagnosis. It wasn't until my insurance wouldn't pay for the "clinch" in the testing that I went elsewhere on my own. Turns out the doctor at UCLA was more interested in my diagnosis than the clerks at Kaiser. She ended up giving me close to $4,000 in free testing because she wanted to know what made me tick, based on the clinical data I presented to her from previous doctors exams. Bottom line - it's a brand new database to be recorded. Go for it.

@Sandra1746 - My hormones have definitely been affected. I was diagnosed with low testosterone before my diagnosis. It wasn't horribly low but was about what a 60 year old man should produce (I'm 40). Males with non-mosaic are more impacted. I have been on testosterone replacement for almost 2 years now and I can say that it definitely makes me more like a man, although I'm not sure that's what I want.

@Julie - although I would have probably wished that I was born female, it's too late now on social level. Although it would be fun to try...

@Persephone - You know what I'm going thru. You have an empty Y while I have an extra X. Life is funny, huh?

Cheers,

Elirra

Quote:

---

Originally Posted by Elirra

I know crossdressing is not limited to people with these kinds of conditions and in fact my condition is quite rare with it occurring in about 1/1000 male births. It sure did/does give me peace of mind though.

---

Glad you have begun to get some answers! Good Luck going forward.

Hiya Elirra!!

Welcome to the forum. When you have enough posts to do so would you please private message me? I would like to talk to you further about your tests. I have been doing a lot of researching into all that and casually searching for the right place to get myself tested however finding somewhere that will go in depth past the standard karyotype testing is extremely hard as I am sure you know.

Talk to you soon.

xoxo

Soriya

Hi Elirra, google "Chloe Prince" and you might find some really good info and contacts. She had Klinefelter's and transitioned.

Welcome to CD.com.
Nice to have you here.
I will have to read up on that syndrome.

Quote:

---

Originally Posted by Elirra

@Rachel80 - I find comfort in my diagnosis in that I now know there was more in the works than my own decisions. A scientifically explained extra propensity towards the extra feminine is exactly what I needed to help explain how I feel. Now with the science to suggest my known conclusions. There are no definitive clinical conclusions published, but come on, you have to admit that it's a strong theory.

---

Yeah it makes perfect sense, I'm not questioning your conclusions, I was just interested (as someone who has gone through all the usual years of self denial and guilt) in how having a medical diagnosis might have changed your attitude to crossdressing. Good luck with everything anyway, I hope you enjoy the forum, nice to have you here! :)

Welcome to our family Elirra

Theres is an Argentinian movie called XXY, that talks about a kid with Klinefelters syndrome, I dont know how close to reality is that movie, but it was a nice movie that kept me thinking a lot.

I have almost all of these traits except I do pretty well verbally and with math. However, it doesn't seem to have any really concerning risks, so I imagine I wouldn't follow it up. 1/1000 isn't really that rare, especially if you're talking to people here. Just uncommon.

But you know, while I'm glad it's made you feel better, it relates to something that makes me uncomfortable. Whether there is a physical disposition to this or not (genetic/epigenetic/environmental), I'm not sure I wish to see that as fundamental. We're approaching a transhumanist age where we think more about what we should be, than think within the limits of what hormones might incline us to do. So, for example, while there's lots of evidence that sexual preference is selected in the womb, I think we should go beyond being concerned with it.

Obviously, it's tremendously relieving to find out there might be a diagnostic cause, so I'm not in any way refuting how you might feel about this.

Quote:

---

Originally Posted by JadeEmber

Obviously, it's tremendously relieving to find out there might be a diagnostic cause,

---

It was certainly easier on my mother when I told her that I had been tested with a differential medical test and had the uncommon result of falling into the category of "almost certainly transgender". (The test I was referring to was starting hormones, and the result I had was "the symptoms mostly went away", which is considered to be the marker for there being definite biological conflict within the brain. Non-transgender usually feel really bad on hormones, and MTF transsexuals whose brains are fully feminized usually feel "good", but just having the noise in your head go away without feeling good is the mark of a brain fighting itself when not on hormones.)

With my being able to tell my mother that Yes, I had an objective medical test done, then she could start to understand that I wasn't just "confused" or "mixed up", that it wasn't a whim or a "mistake" or a fantasy, that it wasn't something I "hadn't really thought about". For myself, it being considered an objective test is comforting to me in relieving some of my self-doubts. But even if it wasn't so considered, I would have stuck with HRT for the peace it gives me, struggling with my mother if I had needed to -- but I can't deny it is nice to be able to give her something that she can accept instead of listening to years of "Did you have the beryllium level in the cartilage of your left knee checked? I found an article that says that can cause gender confusion!"