The Facets of My Design


The story of me has revealed a little more detail recently and up until now, I have only let a few people in on the issue. The reason that this even came up was because of recent issues with the brazen attempt by South Dakota lawmakers to segregate children based on their sex at birth but the key element of their proposed law included the word “chromosomes”.

I thought it was rather odd that they would put in such a direct medical term without any clarification as to what the chromosome element really meant. From this I searched online for the variations in chromosome identifiers and happened upon an article from the World Health Organization that laid everything out clearly.

In this article I found something I found particularly interesting that sounded a lot like some of the issues that I have experienced in my life. Specifically, Klinefelter’s Syndrome was the one thing that really peaked my interest. The excerpt from the article on this is as follows:

“Klinefelter syndrome (47XXY or XY/XXY mosaic) with male phenotype is the most pervasive sex chromosomal anomaly affecting approximately 1:600 males. Males with Klinefelter syndrome carry two or more X chromosomes which results in abnormal development of the testis, leading to hypogonadism and infertility. Affected individuals are often tall and produce relatively small amounts of testosterone. As a result of this hormone imbalance, affected males have incompletely developed secondary male sex characteristics.”

After a little more digging, I found various references that made me think more and more that I had this and so I contacted my Endocrinologist to see if I could get tested. He noted that while the condition is common, he didn’t think I would have it but opted to let me have the test done anyway.

After a blood draw and a ten day wait, I got a note from my Endocrinologist again. He was apparently a little surprised that I indeed had this condition. In fact, I have the rarer version known as Mosaic Klinefelter’s Syndrome with 90% of my cells being 47,XXY and 10% are 46, XY. I’m equivalent to a Male Calico Cat.

So what does this all mean? Well, it means that some of the issues I had growing up with not fitting in, not learning the way others do in school, and a number of my physical conditions are all related and completely out of anyone’s control. This syndrome cannot be prevented or cured and it’s just the way that I am because of the way every single cell in my body is programmed. And because of that mix of just 10% of normal cells, I happened to have a higher intelligence than not only typical Klinefelter subjects but also higher than most of the population.

It may surprise you that I’m really not bothered by all of this. In fact I’m really happy to know that there is finally a definite answer to the combination of issues I have been struggling with. I know how to fix things I thought were unfixable and I know how to deal with the things that are going to be a result of the condition that I did not know before. I really wish I knew of the possible infertility when I was in college, I could have been more of a deviant … I don’t have all of the problems of this syndrome so outwardly I and my doctors had less of an idea I even had it.

In fact, losing weight and getting down to that slender manly build is going to take more than just good diet and exercise. I would have to get surgery to remove some excess breast material as well and I don’t really see that happening now. My dental issues are directly related and this causes thinning of the surface of the teeth (taurodontism).

Just to let you know, they talk about this as being one of the more common conditions and yet I had never heard of it. Well, common is relative I guess. 1 in 660 male births means that in the United States where the male population is about 120 million, there are 200 thousand with Klinefelters but not all of them show signs of it. Apparently there are only 10 documented cases of Mosaic Klinefelters, ever.

So, as far as medical discoveries go, I think I should be more famous than I am with the huge prolactinoma (pituitary tumor) and now this. Oh well, I guess I’ll be the lowly computer tech, which, I found out is one of the star professions that Klinefelter men latch onto with the other being doctors.

And no, I don’t mind talking about this with people. If I get it out there, no one can really exploit it because everyone already knows. Everyone is different in this respect and I feel that I can help others by making them aware of the condition itself and I there is a little bit of enjoying to see people squirm with the information as well.

On to the next discovery!

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