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
