The start of something

I woke up one morning and wondered why there isn’t much information on the internet about the condition that I have recently been diagnosed with. If you look at anyone in the street – it’s hard to point a finger at someone and instantly know that they have Klinefelters Syndrome or 47XXY as there is nothing about the condition that makes you stand out from the crowds – so why is there hardly any information about it?

What is Klinefelters Syndrome?

Klinefelter syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome. Because of the extra chromosome, individuals with the condition are usually referred to as “XXY Males”, or “47, XXY Males”.

Signs and Symptoms

Affected males are almost always effectively infertile, although advanced reproductive assistance is sometimes possible. Some degree of language learning impairment may be present, and neuropsychological testing often reveals deficits in executive functions.In adults, possible characteristics vary widely and include little to no signs of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue). Gynecomastia is present to some extent in about a third of affected individuals, a slightly higher percentage than in the XY population. About 10% of XXY males have gynecomastia noticeable enough that they may choose to have cosmetic surgery.

After reading the above you can see why its not a condition that you would shout about.

I think differently – in terms of physical appearance. I’m lanky, I have a large wingspan (the doctor’s words – not mine), a youthful look (lack of body & facial hair), ability to gain weight only around the mid-section, problems with my teeth from an early age and after a years worth of tests and hospital visits it would appear that I am infertile.

 


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