Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a woman 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. Typically, they only develop menstrual periods and breasts with hormone treatment, and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence.

Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually have 45.

No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.

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

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