Why I chose to write about such a seemingly random topic
Last week I read a book called Bare Bones by Kathy Reichs. For those who like crime, CSI, thrillers, etc, I can recommend Kathy Reichs very highly. Okay, I know some of you are quite shocked to hear that Cindy Vine reads books. Actually, I am an avid reader, but I have an inability to read crap, so if I say an author is good, then believe it. Moving along, in Bare Bones, Kathy Reichs's main protaganist is a forensic anthropologist who studies skeletal human remains to find out who they were and how they died. In this novel, she found a skulless handless skeleton and had to decide whether or not it was male or female. The usual tests were inconclusive. It was either a male of medium height or a female with very long legs. To cut a long story short, other evidence came along and it turned out that it was a male with Klinefelter's Syndrome. Although the author gave a brief description of what the hell Klinefelter's Syndrome was, it didn't satisfy my curiosity enough as I am one curious mother.
I decided to investigate and do a little research and what I found was pretty interesting. In fact, it was so interesting, that I thought I'd share it with other curious people out there who, like me, collect random titbits of knowledge about random things that will have no actual effect on your quality of life. Why do I need to know, because it's there. And also, the next time I see a pear-shaped man, I can go, aha!
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Klinefelter's Syndrome - What it is?
Basically, Klinefelter's Syndrome occurs when a man has an extra chromosome and the pattern is XXY. Instead of having 46 chromosomes, including one copy of each of the sex chromosomes, X and Y, the normal complement for a boy, each cell of someone with Klinefelter's has 47 chromosomes, with two X's and one Y, a genetic abnormality. Surprisingly, it is one of the most common genetic abnormalities in males occurring in one out of every 500-1000 male births. Two thirds of men who have it, live out their lives never knowing they have it and it is one of the leading causes of male infertility.
The syndrome was first identified in 1942 by Dr. Harry Klinefelter and colleagues at Massachusetts General Hospital in Boston. Symptoms of the syndrome are small testicles, small penis, man boobs, long legs, pear-shaped body, very little body or facial hair, inability to produce sperm, decreasing libido after age 25, low muscle mass, tendency to be overweight and an increased risk of diabetes and osteoporosis. Of course, some men with Klinefelter's Syndrome only present a couple of the symptoms and for the rest appear quite normal. That's why it can go undetected their whole life.
While boys with Kliefelter's Syndrome are not intellectually impaired, they are prone to learning disabilities like dyslexia, delayed speech and motor development, and difficulties in grasping abstract concepts and problem solving. Depression, difficulty following through on goals, unusual fatigue and sudden mood swings also often occur in XXY men and boys.
Many of the symptoms only show after puberty or age 15 when the low testosterone levels can have an adverse effect on their manliness.
Klinefelter's Syndrome - Treatment
Okay boys, don't get your hopes up, there is actually no cure. But, if detected early enough, you can be given testosterone injections which will reduce the effects and symptoms. This results in increased masculinity, strength, libido, bone mineral density and body hair. It also has a positive effect on mood and behavior, improves goal-directed thinking and self-esteem and reduces fatigue and irritability. Now if those symptoms are because of an extra female chromosome, maybe you can understand why women can sometimes be moody. It's genetically programmed in us, nothing any therapist can do to change it.
If you take testosterone replacements and you still have man boobs, they advise you to get the fatty breasts removed surgically. While the testosterone might make you horny like the other males on the planet, unfortunately it won't affect your fertility. Your sperm will still not be viable. However a controversial IVF technique known as ICSI has been used with great success. They remove immature sperm from the testes, choose the most viable looking ones and inject them directly into the women's eggs, so there is hope that men with Klinfelter's Syndrome can father their own children with medical intervention. See, nothing is beyond hope. Isn't technology marvellous?
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