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Turner Syndrome

Turner syndrome (TS) is a chromosomal condition that causes developmental problems in females, occurring when one of the two X chromosomes normally found in women is either missing or incomplete. The condition was first identified by Dr. Henry Turner in the late 1930s, but was not defined as a chromosomal deficiency until almost 30 years later.

Today, TS occurs in 1 out of every 2,500 births worldwide, making it one of the most common chromosomal abnormalities. There are approximately 60,000 girls and women living with this condition in the United States, and approximately 800 new cases diagnosed every year. In most cases, fetuses with TS do not survive to term, making up about 10 percent of the total number of miscarriages and stillbirths in the U.S.

Causes and characteristics

Humans normally have 46 chromosomes, two of which determine a person's gender. A woman's sex chromosomes help her become fertile and develop the female sexual characteristics, so when one of the two X chromosomes is partially or completely absent, various developmental problems can occur. With TS, the seriousness of these problems depends on how many cells are affected by the missing or incomplete X chromosome. The more cells affected, the more pronounced the effects.

One of the most common characteristics of women and girls with TS is a short stature. If the syndrome is diagnosed while a girl is still growing, hormone treatment can help her grow taller, but those who go untreated will only reach an average height of about 4 feet 8 inches.

In addition to growth problems, another common characteristic of TS is a lack of proper ovarian development. Because the ovaries are responsible for releasing the hormones that cause breast growth and menstruation, most girls with TS will not go through all the changes that come with puberty. As a result, almost all women with this condition will be infertile or unable to conceive on their own.

Other physical features of TS may include a webbed neck, drooping eyelids, arms that slightly turn out at the elbow, puffiness or swelling of the hands and feet, low-set ears, a low hairline and a broad chest.

There are also a number of health problems that occur more often in girls with TS than in healthy girls. These include cardiovascular problems, high blood pressure, kidney and thyroid problems, diabetes, cataracts, hearing difficulties and skeletal disorders, such as scoliosis or dislocated hips.

Not everyone with TS experiences the same symptoms. Some may exhibit several of the physical effects, while others experience only a few. With early treatment, most women and girls with TS can lead normal, healthy lives.

TS is not associated with any environmental or other factors generally associated with genetic problems, and despite many efforts, the cause of the condition has not yet been found. At this point, it has been determined a random condition that can affect anyone.

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