Turner Syndrome

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome.[2] Signs and symptoms vary among those affected.[1] Often, a short and webbed necklow-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.[1] Typically, they develop menstrual periods and breasts only with hormone treatment, and are unable to have children without reproductive technology.[1] Heart defectsdiabetes, and low thyroid hormone occur more frequently.[1] Most people with TS have normal intelligence; however, many have troubles with spatial visualization that may be needed for mathematics.[1] Vision and hearing problems occur more often.[5]

Turner syndrome is not usually inherited; rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development.[8][9] No environmental risks are known, and the mother’s age does not play a role.[8][10] Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered.[11] While most people have 46 chromosomes, people with TS usually have 45.[11] The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism.[5] In these cases, the symptoms are usually fewer and possibly none occur at all.[12] Diagnosis is based on physical signs and genetic testing.[3]

No cure for Turner syndrome is known.[4] Treatment may help with symptoms.[4] Human growth hormone injections during childhood may increase adult height.[4] Estrogen replacement therapy can promote development of the breasts and hips.[4] Medical care is often required to manage other health problems with which TS is associated.[4]

Turner syndrome occurs in between one in 2,000[6] and one in 5,000 females at birth.[7] All regions of the world and cultures are affected about equally.[8] Generally people with TS have a shorter life expectancy, mostly due to heart problems and diabetes.[5] Henry Turner first described the condition in 1938.[13] In 1964, it was determined to be due to a chromosomal abnormality.[13]


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