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Turners Syndrome is a genetic condition. It affects
only girls, and occurs in 1 every 2500 live births. Most girl's genetic buildup consists of the XX chromosomes
(these define the sex as female, it would be XY in males) In a girl with Turners Syndrome, one of these X chromosomes is missing.
This causes the condition Turners Syndrome.This genetic fault sometimes occurs in all the cells in a girls body. We know this as
classic Turners Syndrome. It may also occur in just some of the cells, the others being perfectly healthy. This is known
as mosaicism.
It's a lot easier to understand why this results in problems if you understand that
our genes are basically a code for making proteins with which we function. These proteins are essentially what make us who
we are. It is lack of the 2nd set of genes within the missing x-chromosome which causes the problems. This is because,
in the simplest terms, some genes require 2 copies of many genes in order to express a correct amount of protein, meaning
problems occur when there is only 1, as in the x chromosome of a girl with Turners.
The x chromosome is actually the only chromosome that can afford to exist alone This
is to do with the fact that the Y chromosome that defines a person's gender as male is actually only a small fragment
of the X chromosome (there you go girls, something to use against men!) For this reason, the x-chromosome is much better at
overexpressing a lot of genes on one x chromosome (and therefore producing a sufficient amount of protein) as it
needs the facility to compensate for the missing genes in the male. Please note that I'm not 100% sure I have this absolutely
right and that it is in reality far more complicated than this! I'm speculating a little on my own knowledge of the subject!
There are various different problems that are
associated with Turners Syndrome. The most common of these are short stature, no function of ovaries leading to problems with
fertility and puberty, hearing and vision problems, bad spacial awareness, heart problems, horseshoe kidneys......The list
is endless, and quite scary! But remember it is likely that any one girl with Turners will only suffer a small handful of
these problems.
Medical treatment is getting better all the time,
and with growth hormone and hormone replacement therapy, girls are reaching good heights and leading perfectly normal lives
in general. It is extremely important however, that throughout their life (even beyond adulthood) girls with Turners Syndrome
go for regular hospital checkups. There are various health factors that a girl with TS needs monitoring regularly,
to ensure they don't become damaging to your health.
There are some myths associated with Turners
Syndrome, that unfortunately are still pasted around the internet (be careful where you obtain information for this reason!)
and that a small proportion of doctors even still believe, meaning women pregnant with babies with the condition
are, on occasions, being encouraged to terminate. One is that we are mentally retarded. If you see this
in any source of information then please please please ignore that information completely, because it is basically not true
in the case of classic Turners Syndrome. The other is that TS girls are intersexed. For the record, intersexed defines a
child that has both male and female organs, whereas girls with TS are anatomically female in every way. Please take any
information that states either of the 2 above facts to be true with a very large pinch of salt! Or better still, disregard
them completely!
Having said this, for all Turners Syndrome girls, there
may well be aspects of schooling and life that they struggle with. These, of course, must be acknowledged and dealt
with, otherwise they will cause serious problems. A good example that is being highlighted a lot at the moment is the heart
defect many TS girls encounter. This is basically an enlargement of the aorta, which at worst will lead it to tear, killing
the sufferer of this problem in minutes. If regular checkups are carried out on girls with Turners Syndrome, it can be detected
and an operation can be performed to correct it long before it reaches that point, but if left unattended, the worst could
happen!
All in all, stay clued up, so you stay healthy by going for regular checkups
and finding the answers to those burning questions you have, but be yourself and be happy. There's no reason why you
shouldn't!
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