Friday, November 12

Klinefelter Syndrome

What, you've never heard of Klinefelter Syndrome? I'm not surprised, even though it's the most common chromosomal disorder know to man. Or men, since it only affects males.

Occuring in 1 in 500 to 1 in 1000 men, it adds an extra X chromosome to a male's karyotype. XXY in other words, rather than the more common XY. So instead of 46 chromosomes, someone with an XXY makeup then has 47. Also known as 47,XXY, the condition is more commonly referred to as Klinefelter Syndrome.

That extra X chromosome does some fairly obvious things to a man's appearance, some of which are quite dramatic, outwardly at least. For example, a Klinefelter Syndrome male can be expected to be taller than their fathers and younger siblings. That, and their legs are longer than their torsos. And their "wingspans", that is, from the tips of one outstretched arm to the other, will be "longer" than their height.

As might be expected, that extra X also makes a man have certain characteristics that are quite un-male: Breast development, female fat distribution, and incomplete beard growth.

But the rather telling part about Klinefelter Syndrome is the sexual nature of the condition. In fact, it's what makes a male seek medical advice during certain points in their life. Primarily, Klinefelter Syndrome makes a man sterile. Elevated levels of FSH or Follicle Stimulating Hormone, and LH or Leuteinizing Hormone, and a low levels of testosterone. FSH is that which promotes sperm production, and LH is what is supposed to produce testosterone. These three endocrinological processes are primarily what define a man as having Klinefelter Syndrome.

There are several times during a man's life, from birth through adulthood, where a man might be tested for the condition. Prenatally, where there is insufficient progress in the fetus' development, or in childhood where there are learning difficulties. Also suspect is when puberty doesn't happen in the time frame it should. Or even later in life, when a young man and his wife are trying to get pregnant, they find out then he is sterile because of the condition.

OK, folks, this isn't just some random interest I have in a medical condition. It isn't part of one of those "Mystery Diagnosis" shows that Marilee likes to watch. I have a deep interest in the subject, as you'll see soon enough.

One year ago today, I was diagnosed with Klinefelter Syndrome.

There's nothing chronological about it. A year with Klinefelter Syndrome is just like any other year I've lived. Except for one thing - for a year I've realized just what my life was like without knowing. Why my life was such a struggle socially, intellectually, professionally... the list runs the gamut.

OK, before you say it - as has already been said to me numerous times over the last year - I am not being too hard on myself. Take a trip in my mind for a few moments, if you will.

Lazy, scatter-brained, clumsy, absent-minded, hot-headed, quiet, shy... all have been used to define me, and all are symptoms of Klinefelter Syndrome. In fact, I have found that when compared to other early developmental disorders, most boys who are diagnosed as being ADD or ADHD are later found to actually have Klinefelter Syndrome.

So why now? As I said, there's nothing really chronological about living with Klinefelter Syndrome; as humans, we all need to have anniversaries to remember meaningful events. This one is no different, though it has afforded me the ability to reflect.

The next year will be quite a journey for me; I've decided to write a book about my life with Klinefelter Syndrome. My hopes are that it will be read by parents and friends of those with Klinefelter Syndrome, whether they know they have the condition or not.

Besides, who would have thought that I had an extra X chromosome?


Anonymous said...

Valuable info. Lucky me I found your site by accident, I bookmarked it.

Anonymous said...

I don't get it. You shrug this off like its nothing. I wish you would explain more... did you develop more breast tissue than usual? Are you taller? Do you have more curves? What is it like having Klinfelters? Your book is going to suck if you don't emotionally connect with the people reading your book, whom probably has Klinfelters. Think about this...

bob's bs said...

To Anonymous: I don't think that's fair to say that. Of course I want to make a connection with whomever might read my book. But getting started on is is part of the problem - not knowing where to start is a characteristic of Klinefelter Syndrome. I've hardly shrugged it off, I live with it every day. There's more to tell, but I have a life outside of Klinefelter Syndrome, one that keeps getting harder every day. I'll leave it at that for now...

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