Turner

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. Typically, they develop menstrual periods and breasts only 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. Many, however, have troubles with spatial visualization that may be needed for mathematics. Vision and hearing problems occur more often.

Causes

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. While most people have 46 chromosomes, people with TS usually have 45. 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 often less severe.

Diagnosis

Turner syndrome may be diagnosed by amniocentesis during pregnancy or at birth. Often it is not diagnosed until late childhood or early adulthood. Diagnosis is based on physical signs and genetic testing.

Treatment

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 for heart, kidney, and thyroid problems.

Epidemiology

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. People with Turner syndrome often live a normal life span.

See also

• List of genetic disorders
• Chromosome abnormalities
• Sex chromosome disorders

External links

• National Institute of Child Health and Human Development
• Turner Syndrome Society of the United States

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