Turner's syndrome

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Turner syndrome (TS) affects only females, and occurs when one of the two X chromosomes (a chromosome is a strand of DNA that exists in every cell in your body) normally found in females is completely or partially missing.

TS occurs in approximately one in 2000 live female births.

When an X chromosome is completely missing this is referred as 'classical' Turner syndrome. There are number of physical and medical features which may be present in a female with â€˜classicalâ€™ TS.

The most common characteristics include being shorter in height than average and lacking the development of the ovaries leading to infertility. These almost always occur. The number of other features or characteristics of TS varies greatly. Features can include an especially wide neck â€˜webbed neckâ€™ , a broad chest and widely spaced nipples, arms that turn out slightly at the elbow, a low hairline, low set ears and puffy hands and feet.

Occasionally there may also be heart problems, kidney and thyroid problems, bone disorders and hearing and ear disturbances.

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 may be necessary throughout life, but the majority of girls and women with TS lead normal, healthy lives.