Klinefelter's Syndrome Association
An Introduction from one of our Members.
Although Klinefelter's Syndrome is probably one of the most common chromosomal variations it is not well
known to the general public or even, in many cases, to the medical profession. This is because the majority of
affected males live their lives without being aware that they have an extra chromosome. They probably lead as happy,
or unhappy, successful, or unsuccessful, lives as the rest of us. Unlike Down's Syndrome and even Fragile X Syndrome
there are often no very obvious physical or psychological effects. The four most likely times for diagnosis are
:- I have just read the "physical characteristics" page and compared them to my son. He is 20 years
old, 5ft 11in tall and skinny. He would be 'pear shaped' if he put on too much weight. He wears size 8 shoes and
is as hairy as a monkey. His two main areas of interest are girls and bodybuilding (because he thinks that will
impress the girls!). Read on, but remember your best friend, your physics teacher or even your milkman may also
have an extra X or two.
(1) During pregnancy if routine screening is carried out for Down's Syndrome etc the extra chromosome would be
discovered.
(2) Pre-school if the child has a language delay or disorder.
(3) During schooling if the youngster is having difficulties either socially or academically.
(4) In Adulthood as a result of fertility investigations.
As the rate of diagnosis is very low this suggests that the majority of males do not experience problems of sufficient
severity to warrant them seeking help or advice.
As the youngsters whose parents join the KSA are often those who are more affected we probably get a biased view.
The adult male members are a more balanced selection as very many of them will have been identified only by fertility
tests. There are very successful businessmen running their own companies, computer experts, doctors and managers
- and those are just a few whom I know!
Often the only common factors are that the men have an extra chromosome and will have undeveloped testes and hence
be infertile - [unless they have a mosaic (46XY,47XXY)] they may be taller than average, but not usually excessively,
they may have less body hair than average, but not necessarily, they may have a more "female' weight distribution,
but if they enjoy -sport and exercise they may not. KS males are like the rest of the population. No two are the
same. Some are clever, some are not. Some are musical, some are not. Many are more sensitive and perceptive, some
are not - more' s the pity!