Turner Syndrome: Symptoms and Treatments: Facts and Statistics on the Female Genetic Disorder

This genetic disorder occurs in about 1 of 2,500 live births worldwide. Each year 800 new cases are diagnosed in the United States.

Variations occur in which the afflicted woman has a partial second X chromosome. Normally, an X and Y chromosome result in a male offspring while two X chromosomes create a female. Women with Turner Syndrome appear female despite the fact that they have only one sex chromosome. With only one X chromosome, the body "defaults" to female development.

Turner Syndrome Diagnosis

Turner Syndrome can be diagnosed during pregnancy with amniocentesis. For unknown reasons 98% of Turner Syndrome-afflicted fetuses spontaneously abort, making up 10% of all miscarriages. Later in life the disorder can be diagnosed by karyotyping. This chromosome test shows whether or not the second X is missing or damaged.

Symptoms of Turner Syndrome

Universal symptoms include a short stature and failure of the ovaries to develop properly. Other symptoms that may be present include a broad chest with widely spaced nipples, low hairline, low-set ears, swelling of the hands and feet, a webbed neck, small lower jaw, in-turned elbows, Simian crease, drooping eyelids and increased risk of developing heart, kidney, and thyroid problems.

Many women with TS have skeletal deformities, due in large part to hormonal problems. Generally the woman's head, neck, and chest are of normal size, but her arms and legs are proportionately short. The average height she will grow to is 4 feet 7 inches. A poor circulation of estrogen may also lead to osteoporosis.

Nearly all women with Turner Syndrome are infertile. Pregnancies are very rare and limited to those with at least a partial second X chromosome. The women who are able to get pregnant have a higher risk for miscarriages and birth defects.

Turner Syndrome Treatments

Since Turner Syndrome is a chromosomal disorder, no cure exists. Currently there are several ways of treating its symptoms. Growth hormones are approved to help girls reach a greater height. Treatment can begin as early as 2 to 3 years of age and can add 3 to 5 inches to the girl’s height.

Once growth hormone treatment is stopped, around 12 years of age, it is common to begin estrogen replacement therapy. The estrogen therapy helps the girl develop breasts and start a monthly period, but due to a lack of ovarian development that cannot be corrected she will still remain infertile. Some TS women have found success with in vitro fertizilation, however the procedure is highly risky and not typically recommended.

Cognitive Problems and Turner Syndrome

Unlike many chromosomal disorders, Turner Syndrome is not associated with mental retardation. However, some women do report learning difficulties, especially with spatial concepts such as mathematics. Researchers believe studying the effects of Turner Syndrome may hold clues to gender’s role in brain development.

Living with Turner Syndrome

Clearly these young women face many challenges in living with such a disorder. Though they may have increased health risks and face some learning difficulties, with proper treatments and counseling, all evidence suggests these girls can live full, healthy lives. Early diagnosis is critical for these girls to develop into their full potential.

References

The copyright of the article Turner Syndrome: Symptoms and Treatments in Human Genetics is owned by Stephanie Cox. Permission to republish Turner Syndrome: Symptoms and Treatments in print or online must be granted by the author in writing.

Nov 18, 2008 10:52 AM

Guest :

I am a high school student researching this. This is a shame. Hopefully one day, scientists will be able to correct this.

Nov 18, 2008 6:59 PM

Guest :

Hey my name is Kelli and I was diagnosed 14 years ago with this condition. If you need any info please dont hesitate to contact me at nursesrule2006@embarqmail.com

Nov 18, 2008 7:00 PM

Guest :

Hey my name is Kelli and I was diagnosed 14 years ago with this condition. If you need any info please dont hesitate to contact me at nursesrule2006@embarqmail.com

Dec 16, 2008 7:49 PM

Guest :

Hi. My 14 year old daughter Kelly has Turner syndrome but it does not define who she is because of the way we raised her. Kelly is an over-achiever all on her own though. Kelly was diagnosed at 6 months started hormone therapy at 2 and just this year the estrogen depot estradiol. I read a study that showed the girls grew a bit better with the once a month shot of the syntheic hormone. Kelly started out in early intervention getting all therapies. She got private PT, OT & Speech and the same in school for many years. She still gets speech and OT. She has an IEP to meet her individual education needs. Kelly is very self motivated and earns A's at high school most of the time. She volunteers, competes, fundraises for her own children's hospital and recently took an oath of office for our city's youth board. Kelly is working toward her brown belt in karate this year. She started at age 5. She is pretty and smart but is known for her sweet, kind nature. Kelly has blessed our lives so much. I was helping her with a health project when I came across this article. I have never written about her and my only motivation was to offer some hope.

Feb 20, 2009 5:35 PM

Guest :

hi my name is selma and i was diagnosed whe i was 10 i started growth hormones right away . today im 18 years old i stopped the hormones four years ago. i do have thyroid and i do have problmes with math but other than that i have lived a very normal life thanks to my parents. i did get teased at school alot but im over that now.
if you have any questions email me at lauren_graham1@hotmail.com

Mar 11, 2009 5:49 PM

Guest :

sorry for my sisters comments they were quit harsh... we lost a sister that we never met due to turners syndrome and she never really gotten use to it so i appologize and i really do hope we find a cure for this horrible disease

Mar 15, 2009 7:15 AM

Guest :

Hi my name is tasha i am 23 i was disagnosed at birth. I have heart and theorid issues, i started my treatment at an early age. I attened community college for early childhood eduaction. I am liveing a normal life to this day. I enjoy spending time with my family and my boyfriend.

Apr 14, 2009 11:53 AM

Guest :

that disease really stinks im also researching turner syndrome it is a very bad thing and i hope that the females who have it get better

Aug 19, 2009 9:58 PM

Guest :

Hi my nmae is Denise, My grandaughter is having her first baby, and they have told her that the baby has turners. shes 17 weeks along, they are going to do the amnio. in 7weeks, Im so comcern that will put her in labor. This came out in her blood test and also ultrasound.Im scared for my grandaughter and grandbaby.

Sep 1, 2009 1:05 PM

Guest :

I disagree with all the negative comments on here. It's not a very bad disease...it's not a disease at all, it's a syndrome. I have an 11 month old daughter who has been recently diagnosed with a category of Turner Syndrome. She's healthy, smart on target with milestones and as happy as ever. YOU NEED TO KNOW that there are many categories and side effects to Turner Syndrome. These girls don't need pity, they need encouragement and love, just the same as every child!

Sep 1, 2009 1:05 PM

Guest :

Sep 5, 2009 10:59 AM

callie ng :

My 14 year old daughter, Shannen has this condition. Other than short, she is healthy and active. The only problem is that she has no friend at school. Her peers always tease her. I know she is upset and lonely. We are from Singapore and I hope to find her a friend with similar condition to motivate her.
If you are one, please don't hesitate to contact me at callie_sg88@yahoo.com.sg