Turner Syndrome

Biology Genetic Research Project

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Study of Turner Syndrome

The reason I choose to study Turner Syndrome is because I wanted to know more about about this disease and, what it must be like to live with this. This is a very rare disease and I would like to know what they do to help these people, and how people around them feel about the situation.

Definition of the Disorder

This disease effects 1 in every 2,500 girls. Doctors do not know exactly what causes Turner Syndrome but they do know that it deals with the girls chromosomes. Girls with this syndrome are very short in height, the tallest they could get is about 4'7. Turner Syndrome is diagnosed while the girl is still growing and the doctor puts them on hormones to help her grow taller.

Description of the symptoms

When you have this disorder it could result in some health problems: Kidney problems, high blood pressure, heart problems, overweight, and thyroid problems. Most girls that have this disorder have a difficult time with task that require skills. Some of these girls have problems because it is hard for them to accept that they have the disorder, which mostly deals with their self-esteem. Some girls don't have these medical problems most of them can live life normal but they just have a slower women cycle.

Cause of the disorder

Most girls are born with two X chromosomes but girls that have turner syndrome are missing half of an X chromosome. In addition to growth problems the disorder prevents the ovaries to form properly, which effects the sexual development.

How the disorder is inherited

This type of disease is diagnosed at very young age. It is not diagnosed later on in the girls life. The disease is caused from only having half of one of the chromosomes. It doesn't deal with a recessive trait its something that happens when the baby is produced. The parents didn't do anything wrong it just happened. This type is disorder happened on the X chromosome, the girl only has half of one.

How is the disorder treated?

Because this condition is caused from an abnormal chromosome there is no specific cure. However, scientist have developed a way to help the patient growth and they care still constantly looking for ways to help people with this disorder. The doctors have the girls try a growth hormone which usually helps them reach there average weight, but only if it was started at a young age. Another treatment is estrogen replacement which helps physical changes with puberty. This treatment usually starts at the age 12 or 13.
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How is the disorder diagnosed?

Most girls are usually diagnosed with this disorder usually when the girl is born or when they are expected to hit puberty. If a doctor sees signs of turner syndrome he will order a blood test called a karyotype. It gives the doctor the results about your chromosomes, it can tell the doctor if your missing chromosomes or if there abnormally shaped. Once the doctor gets the result for the karyotype test he will then do test to see if the girl has any health problems. There is no surgery or specific way to help girls with this disorder.

How many and what type of people are likely to have the disorder

This medical disorder effects 1 out of 2,500 girls. It does not have anything to deal with location and you don't get it later on in life. This disorder deals with your X chromosome. This disorder is not very common not many girls have this it just happens every so often.
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Research

I have learned that girls with this disorder have a very difficult time dealing with this, they usually have to be in the hospital all the time or there always having to give themselves shots so they can get the hormones they need to grow. I learned there is not much you can do about this disorder but the girls that do have to go through it are very strong people when it comes to physical appearance.
Genetics Part 4: Mutations
Happy Turner's Syndrome Awareness Month! [My story]