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Turner Syndrome Information

Turner syndrome encompasses a number of chromosomal abnormalities, of which monosomy X, is the most common. It occurs in 1 out of every 2,500 female births[1]. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional. This is called 45,X or 45,X0, although other genetic variants occur. In Turner syndrome, female sexual characteristics are present but underdeveloped.

Common symptoms of Turner syndrome include Short stature, Lymphoedema (swelling) of the hands and feet, Broad chest (shield chest) and widely-spaced nipples, Low hairline, Low-set ears and Reproductive sterility.

Other symptoms include a small lower jaw, cubitus valgus (turned-out elbows), a webbed neck, and soft, upturned nails. Less common are pigmented moles, hearing loss, and a high-arch palate. Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms.

As a chromosomal condition, there is no "cure" for Turner syndrome. However much can be done to minimize the symptoms. For example:

Growth hormone, either alone or with a low dose of androgen, will improve growth and probably final adult height. Growth hormone is approved by the Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans.

Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are also important for maintaining good tissue and bone integrity.

Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.

Health Blogs

A new Down syndrome blood test has recently been released that will allow parents to detect whether or not their baby will have Down syndrome more safely in the pregnancy, without the risk of miscarriage. Although its arrival should not come as much surprise, a new Down syndrome blood test will certainly raise ethical concerns surrounding the ... Read More »
"We just found out that our 10 yr old daughter will not have children due to mosaic turners syndrome. I am out of my element here. I do not believe in keeping things from the children when it comes to there own health. However, at 10, I'm not sure that she is ready to hear all of it. Help from anyone would be appreciated." Finding out ... Read More »

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