Picture of a girl with Turner Syndrome

http://learn.genetics.utah.edu/content/disorders/whataregd/turner/images/turner_person.jpg

Resources

Schoenstadt, Arthur. "Heredity of Turner Syndrome." Genetics.com. 11 Nov. 2006. Web. 1 May 2010.

"Turner Syndrome." Kidshealth.org. Nemours, 1995. Web. 2 May 2010.

"Turner Syndrome." Turnersyndrome.com. 9 Apr. 2001. Web. 2 May 2010.

"Turner Syndrome." Nlm.com. 12 Apr. 2010. Web. 1 May 2010.

"Turner Syndrome." Learn.genetics. 2 May 2010. Web. 25 Apr. 2010.

"Turner Syndrome." Nih.gov. May 2010. Web. 2 May 2010.

"Birth Defects Risk Factor Series." State.tx.us. 23 May 2005. Web. 1 May 2010.

What is the chance of a person passing the disease to their offpsring?

Since women with Turner Syndrome can't have children on their own and since the disorder itself is very rare, the chances of a person passing it on to their children is very slim to none. Very rarely when a normal woman and a normal man reproduce, there is a mistake in the cell division that randomly causes an affected child. This would make a girls sex chromosome X instead of XX.

What are the statistics about Turner Syndrome?

Turner Syndrome is a very rare disease and not many people have it. According to Genetic Disorders Library about 800 new cases of Turner Syndrome are diagnosed every year. Also almost 1 out of 2,500 babies that are born have Turner Syndrome(http://learn.genetics.utah.edu/content/disorders/whataregd/turner/). More than 95% of adult women with Turner Syndrome are short and infertile says Turner Syndrome: eMedicine Pediatrics (http://emedicine.medscape.com/article/949681-overview). Lastly statistics show that right now the United States has 60,000 females that currently have this disease(http://emedicine.medscape.com/article/949681-overview). This may seem like a lot but when the whole population of the United States is more than 300,000,000 billion 60,000 females is not a lot.

What are some organizations that can help a family cope with this disorder?

Some of the organizations to help and support people with this disease include: the Turner Syndrome Society of the United States (http://www.turnersyndrome.org/), the Magic Foundation (http://www.magicfoundation.org/www) and the National Institute of Child Health and Human Development (http://www.nichd.nih.gov/). These are just some of the many foundations and organizations that help support families by having meetings, fundraisers and help lines. If your child has Turner Syndrome these websites can definitely help you and your family cope with this disease.

Is it possible that a cure will be found?

Right now there is not a cure for Turner Syndrome but researchers are working on finding one. There may not be a cure for the actual disease itself but there are treatments to help with the symptoms. For example they have found a treatment (hormone replacement therapy) for the growth problem in females with Turner Syndrome. Hopefully a cure will be found so these girls affected with this disease can live normal happy and healthy lives.

What limitations do girls with Turner Syndrome have?

Fortunately girls with Turner Syndrome don't really have strict limitations but should be cautious. They can still live a normal and happy life but should make sure to go to their doctors appointments and exercise regularly to keep their risk of heart problems and diabetes low. Some girls symptoms may interfere with their every day life. Other than that, most females diagnosed with Turner Syndrome are able to live a normal life.

Living with Turner Syndrome

This may not seem like a tragic situation but having this disease from the day you are born until the day you die has its difficulties. Girls living with Turner Syndrome make a lot more trips to doctors in order to get the treatment and medication they need. As far as her intelligence goes a girl living with this disease can be just as smart as any other girl her age. Although some Turner Syndrome girls struggle with math because of a learning disability that comes with the disease, at the same time she could also have a very advanced vocabulary. Just like any normal teenage girl she can still be in sports, clubs and make friends. If at first she feels a little left out parents should encourage her to make new friends. Even though girls with Turner Syndrome are not that different from any other girl, she might come across some self esteem issues. In this case parents and family should keep a positive attitude and support them every step of the way.

Is there a cure for Turner Syndrome?

There may not be a definite cure for Turner Syndrome but there are ways to treat the symptoms. Hormone replacement therapy is the best way for teen girls to reach a normal height. Another option is to take a low amount of a male hormone called androgen. Androgen can help make muscle and hair grow faster. Others might take estrogen, the female hormone, to promote sexual development. Although these treatments don't cure the actual disease itself, it will help the physical symptoms seem less noticeable for the girls sake.

What is the life expectancy of someone with this syndrome?

A female with Turner Syndrome can live just as long as a female without this rare disorder especially if the disorder is caught very early in life. However, women with Turner Syndrome have a higher chance of having heart or kidney problems which can reduce their life expectancy and their quality of life. There may not be a cure, but fortunately most people live a long average life with this disease.

What are the symptoms of this disorder?

There are a lot of physical symptoms for Turner Syndrome so here is a list that you should look for. Being shorter than normal, and starting puberty at a late age are two of the main symptoms of Turner Syndrome which effects females development sexually and physically. Some women will have a different appearance with arms that turn out at the elbow, a webbed neck with a low hairline and a smaller lower jaw. Some symptoms that are not as easy to detect include things such as kidney or heart problems, infertility, hearing issues, diabetes, and high blood pressure. All these symptoms could be a sign of Turner Syndrome but to make sure ask your doctor to take a karyotype just in case.

How is Turner Syndrome diagnosed?

Turner Syndrome can be diagnosed at a very early age by the swelling off the hands and feet, heart problems or kidney problems. Other females can be diagnosed when they go through puberty or don't grow normally in their teenage years. In order to find out if a girl has the disease and treat the symptoms, the doctors must take a picture of all the chromosomes with their homologous pairs, also known as a karyotype. Another way this disorder can be diagnosed is through an ultrasound for pregnant ladies. The earlier the diagnosis the better chance for an early treatment plan.

Since this disease is chromosomal, explain the abnormality.

Turner Syndrome is a chromosomal disease that has an abnormality in the X chromosomes. Girls can either have just one X instead of two or they can have two X's with one that is genetically altered. When there is just one X instead of two, the abnormality is the missing X. On the other hand when there is one whole X and another X that is altered there are three ways for it to be abnormal. The second X could have parts that have been deleted, broken, or duplicated. All these things cause the abnormality for Turner Syndrome.

How does a person inherit Turner Syndrome?

Turner Syndrome is also known as Ullrich Turner Syndrome. This syndrome is only prevalent in females because it affects the X's in the sex chromosome pair. Girls without Turner Syndrome usually have two X chromosomes but girls with Turner Syndrome only have one unaffected chromosome and one missing or abnormal. Females that have Turner Syndrome normally can't have children due to their infertility caused by the disorder. This makes it impossible for the mother to be "sick" with the disease and have a child. This means that Turner Syndrome is not a genetic disease and is neither recessive nor dominant. Turner Syndrome can be caused by nondisjunction which is when the sex chromosome pair doesn't separate when the sperm and egg form. It is caused by a mutation during meiosis and is not inherited because it is a random event that happens during a cell division process.

What is a genetic counselor?

Genetic Counselors are trained professionals that can contribute a lot of information about your specific disease you are facing by looking at your family history and investigating . Sometimes doctors and other researchers don't know as much as these counselors which is why they can provide information that you will need to further understand your disease. Not only are they there to educate you, they are also there to provide as much support as possible. By providing support they can send you to specific places that will supply you with exactly what you need for your disorder. In order to become a professional genetic counselor you need a masters degree in anything related to genetic counseling. This includes extensive training and long hours. They are also certified by the American Board of Genetic Counseling. This is a very intense job but if you love helping others and searching for answers, this is the job for you.