What is Turner Syndrome?

Turner Syndrome only affects females. It occurs in approximately one in 2000 live female births. Turner Syndrome occurs when one of the two X chromosomes normally found in females is completely or partially missing. A chromosome is a strand of DNA that exists in every cell in your body. Sadly, the majority of babies (approx. 95%) with Turner Syndrome are miscarried or stillborn.

When an X chromosome is completely missing this is referred to as Classical Turner Syndrome. There are a number of physical and medical features which may be present Sometimes there may be abnormalities in the X chromosome in only some cells in the body. This is referred to as Mosaic Turner Syndrome and there may be few or no symptoms and fertility may not be affected.

Regular health checks and treatment will be necessary throughout life, but the majority of girls and women with Turner Syndrome lead normal, healthy lives.

The most common symptoms are:

  • Short stature Children with Turner Syndrome often are of normal height for the first three years but then have a lower than average growth rate. At puberty they do not have the normal growth spurt.

  • Non-functioning ovaries Normally a girl’s ovaries begin to produce the sex hormones oestrogen and progesterone at puberty. This does not happen in the majority of girls with Turner Syndrome so they do not start their periods or develop breasts without hormone treatment. Even though many women have non functioning ovaries and are infertile, their vagina and womb are totally normal.

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