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Turners Syndrome Australia
WHAT CAUSES TURNERS SYNDROME
Turners Syndrome was first discovered in 1938 by a Dr Called Dr Henry Turner.
Turners Syndrome affects only 1 in every 2500 women. It never affects males.
Turners Syndrome is a chromosome problem. Normally each cell in the body has 23 pairs of chromosomes, this adds up to 46 all together. Turners Syndrome babies are born with only 45 instead of 46 and they also only have one X chromosome instead of two.
Turners Syndrome happens when the genetic material in the body changes, babies inherit genetic material from both parents, this determines what the baby looks like, (hair colour,eye colour)Babies normally inherit exactly half their mothers genetic material and half of their fathers genetic material. Occasionally though a small change will occur just after fertilisation, this results in the babies copied genetic material being slightly different from the parents. Because genetic material decides every function of the body a genetic change can affect the way bodies look and work.
No one knows why these genetic changes occur ,There is however no link to the mothers smoking or drinking habits,its also doesnt appear to have anything to do with the age of the parents.
Detecting Turners Syndrome
Doctors can detect Turners Syndrome before the baby is born if they do an amniocentesis (They stick a needle through your stomach and remove fluid from the baby) Occasionally this can be picked up by an ultra sound but it is much for common to be detected by the amniocentesis. Occasionally testing the mothers blood can pick up TS a well but that is also very uncommon.
Some of the effects of Turners Syndrome are very obvious at a young age, eg. puffy hands and feet (this is caused by poor drainage of fluid) or a short thick neck may be obvious very soon after birth.
Diffaculty gaining weight can also be a sign of TS, Babies with Turners Syndrome often vomit their food much more than other babies, (this causes the poor weight gain) these problems however generally disappear before the babies first birthday.
Other effects might take longer to detect, they may not be growing as fast as other girls their same age, However the effect of infertility may not be detected until adult hood.
However every girl is different so the age at which the effects first become noticable will differ .
The earlier Turners Syndrome is detected the better, This gives the parents time to understand what Turners Syndrome involves and can help them to prepare themselves to provide the most supportive and understanding environment they can for their daughter.
Also the earlier the diagnosis the earlier treatment can be organised.
Symptoms of Turners Syndrome~
The symptoms of Turners Syndrome can include:
l Puffy hands and feet
l The neck may look shorter and thicker
l Wider chest
l Short Stature
l Infertility
Complications that can be associated with Turners Syndrome
Some complications that can be associated with Turners Syndrome are:
l Kidney abnormalities
l High Blood Pressure
l Obesity
l Diabetes
l Middle ear infections
It is generally uncommon for a some one who has Turners Syndrome to have all these symptoms but in a few rare cases they do, most with Turners Syndrome only have one of a few of the above effects on their body.
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