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:
- short stature and non-functioning ovaries which causes infertility,
- some women may also have extra skin on the neck (webbed neck),
- puffiness or swelling (lymphedema) of the hands and feet,
- skeletal abnormalities,
- heart defects,
- high blood pressure,
- and kidney problems.
- 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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Is Turner syndrome inherited?
Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.
Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.
In Turner syndrome, the girl does not have the usual pair of two complete X chromosomes. The most common scenario is that the girl has only one X chromosome in her cells. Some girls with Turner syndrome do have two X chromosomes, but one of the X chromosomes is incomplete. In another scenario, the girl has some cells in her body with two X chromosomes, but other cells have only one. This is called mosaicism.
