Everyone has two sex chromosomes. Healthy males have one X and one Y chromosome, while healthy females have two X chromosomes. Turner syndrome occurs when a female is missing part of, or an entire, X chromosome at birth.
Normally, girls have two X chromosomes that contain the genetic information needed to develop sexual characteristics. Other genes important to development are also present in the X chromosomes. Therefore, females with Turner syndrome have developmental abnormalities, such as a short stature and reproductive problems.
Turner syndrome is not usually considered life threatening. However, many patients develop heart, kidney, and thyroid problems, as well as other abnormalities that require lifelong monitoring and treatment.
Although there is currently no cure for Turner syndrome, treatment is available to manage the symptoms and related conditions. Most women with Turner syndrome are able to live long, healthy lives. Many women are able to have children with the help of hormone therapy and/or fertility treatments.
Researchers estimate that Turner syndrome affects about one female out of 2,000-5,000 live births.
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