After learning about sex chromosome abnormalities, I wanted to look more into Turner Syndrome. As a female, I wanted to learn more about the how someone affected with this syndrome goes about day to day life. I wanted to look more into this syndrome because it is rare so therefore I did not know much about it. As we learned in class, Turner Syndrome affects about 1 in 2,500 females. It occurs when only one of the X chromosomes functions, while the other X chromosome is abnormal or missing. Symptoms include reduced fertility, abnormal ovarian function, and short stature. Other symptoms may include “heart defects, kidney problems, hearing loss, high blood pressure, and webbed skin on their necks”(Botelho 1). For the most part, intelligence is not affected. Yet, scientists have found that social issues may arise from this disorder. It can be very difficult for a female to deal with insecurities about having this syndrome; for example, not being able to have children.
I wanted to find an article discussing how women with Turner Syndrome function of a day to day basis. However, I found something much more interesting. A woman, Mariam Beit- Aharon, discovered that she had Turner Syndrome after going to a pediatric endocrinologist. After they mapped her genes, it showed that she had a missing X chromosome; this discovery explained her short stature. She also has “low-set ears, a double row of eyelashes, and slightly crooked elbow joints” (Botelho 1). Yet, what really intrigued me about this woman is what she decided to do about her syndrome. She took growth hormone injections daily after she was diagnosed. She started to take estrogen therapy when she was in high school. This estrogen therapy was a form of birth control used to help her begin menstruation. She hopes to have kids one day, with hopefully the option of IV or adoption.
Scientists are looking into options for the future for those with Turner Syndrome. One woman, geneticist Angela Lin, is currently looking into whether IVF therapy is safe for women who want to get pregnant yet have Turner Syndrome. Others, such as pediatric endocrinologist Marsha Davenport, is currently in the lead of a “clinical trial to understand whether giving low amounts of growth hormone to girls with Turner immediately after birth, instead of in early childhood, can improve their early brain development” (Botelho 1).
I thought that this story was very interesting. For the majority of women with Turner Syndrome, they are able to function normally with the exception of being fertile. Yet, I would be interested in seeing how gene therapy will be used in the future for this disorder. Since we learned about both gene therapy and sex chromosome abnormalities, it is an interesting connection that could be linked. This article taught me a lot about some steps that women are taking to “enter womanhood”, as Mariam stated. I am sure that the developments in science will come to help those with Turner Syndrome.
Botelho, A. (2014, April 7). Women with Turner Syndrome tell their stories - The Boston Globe. Retrieved February 24, 2015, from http://www.bostonglobe.com/lifestyle/health-wellness/2014/04/07/women-with-turner-syndrome-tell-their-stories/Y0z0o6X5K162vLjqt0907J/story.html
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ReplyDeleteI am also very interested in Turner syndrome, as I did not know much about it either before we studied it in class. What was especially interesting to me is that some people do not have more than the physical characteristics associated with the syndrome, whereas some people have serious medical problems that accompany it. Once I read your synopsis of Miriam’s discovery of her Turner syndrome, I wanted to read about the stories of other girls with it. I came across the story of Ashley Perry, a ten year old with Turner syndrome. I found her story particularly intriguing because her parents actually found out that she had Turner syndrome when her mother was pregnant with her (Silver, 2015). When babies are found to have Turner syndrome before being born, they have about a 1% chance of survival due to fluid buildup around the heart and lungs (Silver, 2015). Ashley Perry survived, however, she has had serious medical problems since birth (Silver, 2015). So, this is obviously a very different case than Miriam. This brings up the question: why do some people with Turner syndrome have worse symptoms? Does this depend on one factor or a combination of factors? In some cases, it may be because only part of the X chromosome is missing instead of the whole thing. I was also wondering why Turner syndrome causes so many problems considering the fact that one X chromosome is inactivated anyway.
Hopefully scientists will find a way to help all girls with Turner syndrome, no matter the severity, because it seems like it can vary a lot. This research will be interesting to follow as scientists make progress through the next couple of years!
References
Silver, M. (2015, February 2). Young Girl Beating the Odds Against Turner Syndrome. Retrieved February 25, 2015, from http://www.youralaskalink.com/Young-Girl-Beating-the-Odds-Against-Turner-Syndrome-290620141.html
Like you, I didn't know very much about Turner's syndrome other than what we briefly learned in class. After reading your post I was curious to learn more about people affected by Turner's syndrome and the way they deal with it in daily life. I found an excellent article about a girl named Brooke Schmidtke. The article also has a video attached of an interview with Brooke where she discusses growing up with TS and her struggle to feel accepted, I highly suggest watching it! Brooke first learned of her condition when she was 5 years old due to the fact that she was most shorter than the other kids and even recalls being so short she could barely climb up the steps of a school bus (Roznik, 2015). Because of this and the fact that Brooke hadn't grown in almost 2 years, the doctors diagnosed her with Turner's Syndrome (Roznik, 2015). Brooke also described the emotional component behind being different than everyone else because of her condition. Apparently when she began taking growth hormones, this prohibited her from being able to go on vacation or to sleepovers because of her need to take multiple shots a day (Roznik, 2015). Brooke also experienced hearing problems because of Turner's Syndrome and must use a hearing aid, further making her feel isolated from everyone else. The article fortunately has a happy ending in which Brooke began to play several sports in high school which led to her being comfortable with herself (Roznik, 2015). The article and interview really were excellent so if you want to read it the link ins below.
ReplyDeleteReferences:
Roznik, S. (2015, March 1). Rosendale woman makes best of living with Turner's Syndrome. Retrieved March 1, 2015, from http://www.fdlreporter.com/story/news/local/2015/02/26/growing-different/24078651/