Turner Syndrome

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Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.

Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth

Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization that may be needed for mathematics. Vision and hearing problems occur more often.

Turner syndrome is not usually inherited from a person's parents. No environmental risks are known, and the mother's age does not play a role.

Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.

No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Medical care is often required to manage other health problems with which TS is associated.

Turner syndrome occurs in between one in 2000 and one in 5000 females at birth. All regions of the world and cultures are affected about equally.

Generally people with TS have a shorter life expectancy, mostly due to heart problems and diabetes.

Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.