Turner Syndrome

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Turner syndrome facts

*Turner syndrome facts by John P. Cunha, DO, FACOEP

  • Turner syndrome is a chromosomal condition related to the X chromosome that alters development in females, though it is not usually inherited in families.
  • Symptoms of Turner syndrome are:
  • Women who have Turner syndrome have a slightly higher risk of having an under active thyroid or developing diabetes.
  • Many girls are diagnosed with Turner syndrome in early childhood when a slow growth rate and other features such as webbed neck, a broad chest, and widely spaced nipples are identified. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck, or swelling of the hands and feet.
  • Treatment for Turner syndrome includes growth hormone injections and estrogen replacement therapy.

What is Turner syndrome?

Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems.

This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).

Turner syndrome is a chromosomal condition related to the X chromosome.

Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

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