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Turner Syndrome: Causes, Symptoms, Treatment, and Coping Mechanisms

Updated on October 9, 2018
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Hi, I'm a freelance writer who is extremely concerned with holistic health and well being. Feel free to browse my health articles.

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A webbed neck and puffy feet. A person who has such features may have Turner Syndrome.

The number of women who have this condition is small but needs acknowledgment. This article aims to give them due attention.

What is Turner Syndrome?

This little-understood condition occurs when a female is missing part of the X Chromosome. She typically has a short stature and swollen feet. Dr. Henry Turner discovered it in 1938. He worked with seven girls with developmental abnormalities.

TS is a genetic condition, but it is unlike the rest. It isn't a result of a flaw in inherited genes. Instead, chromosomes become stunted during gestation.

Women with Turner Syndrome only have menstrual periods and develop breasts only with hormone replacement. Many of them cannot have children without the help of reproductive technology.

Women with this condition have an average or better intelligence but may lack the spatial visualization needed to solve mathematical problems.

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Turner Syndrome: A Case Study

Monica (not her real name) is an Asian woman who developed a female's physical attributes at the usual rate when she was a little girl. Though she was small-built, she wasn't much shorter than her peers.

Her situation became uncomfortable when she was in her teens. She watched with disappointment as her friends grew taller than her, developed as women, and formed relationships with the opposite sex. Conversely, she dealt with weight issues and had a short, dumpy appearance.

Her family was embarrassed by her short stature and sought help. The alternatives they considered included prosthetic leg extensions and a form of acutherapy known as Pilipala Dao in Mandarin. The procedure involved long, painful massage sessions that bore little fruit.

Monica, now a few decades older, is happily married, but without children. Doctors told her that she has Gonadal Dysgenesis (underdeveloped ovaries without eggs). Hormone therapy enabled her to have regular periods, but she cannot conceive.

Turner Syndrome: Causes

Turner's syndrome has a few causes. They aren't preventable because they aren't hereditary, but a result of a chromosome with a short arm. This description is a summary of the following causes.

1. Monosomy

The X chromosome is absent in some cases, usually because of a fault in either the father's sperm or the mother's egg. The absence results in every cell of the body having only one X chromosome.

2.Mosaicism

Errors in cell division while the fetus develops may lead to them having an extra X chromosome. Others have just one.

3.Abnormal X Chromosomes

Some X chromosomes in the body may miss parts. Cells may have one altered and one regular copy. The error may also happen during cell division during the early stages of fetal development.

4. Y chromosome material.

In some cases of Turner Syndrome, some cells have only one X chromosome while others have the X chromosome and some Y chromosome material. Those with Y chromosome material risk developing gonadoblastoma.

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Symptoms of Turner Syndrome

The symptoms of Turner Syndrome aren't apparent but will manifest themselves.
Here are some traits you will observe if someone has Turner Syndrome. Note that TS is more noticeable during a girl's teen years.

1. Below average height

First of all, the child's growth rate will be well below average. If she is 20 cm(8 in) shorter than her peers, a test for TS is justifiable.

2. No puberty

Though some teenagers develop at a slower rate than others, it would be odd if they didn't show signs of puberty by the age of 14 or 15. Consider giving them a test for TS.

3. Learning and social difficulties

Does the teenager in question find it tiresome to make friends? TS can cause social difficulties. Also, she may have trouble with spatial concepts. It is common for girls with TS to have problems solving mathematical equations.

4. Medical Diagnosis

A doctor will be able to confirm your suspicions. He will administer Karyotype Genetic Testing, a blood test which will uncover Turner Syndrome. The sooner the doctor can verify the condition, the faster treatments can begin.

Turner Syndrome: Symptoms

The symptoms of Turner Syndrome aren't apparent but will manifest themselves.
Here are some traits you will observe if someone has Turner Syndrome. Note that TS is more noticeable during a girl's teen years.

1. Below average height

First of all, the child's growth rate will be well below average. If she is 20 cm(8 in) shorter than her peers, a test for TS is justifiable.

2. No puberty

Though some teenagers develop at a slower rate than others, it would be odd if they didn't show signs of puberty by the age of 14 or 15. Consider giving them a test for TS.

3. Learning and social difficulties

Does the teenager in question find it tiresome to make friends? TS can cause social problems. Also, she may have trouble with spatial concepts. It is common for girls with TS to have issues solving mathematical equations.


Turner Syndrome:Possible Treatments

4. Medical Diagnosis

A doctor will be able to confirm your suspicions. He will administer Karyotype Genetic Testing, a blood test which will uncover Turner Syndrome. The sooner the doctor can verify the condition; the faster treatments can begin.

Turner Syndrome: Possible Treatments

Sadly, there's no cure for Turner Syndrome. Some treatments can minimize its symptoms.

1. Hormone Injections

These can raise a girl's height by a few inches, but a doctor must administer them early.

2. Estrogen replacement therapy (ERT)

ERT, if given soon enough, can start secondary sexual development, including that of the breasts and hips. Estrogen and progesterone will help girls who haven't menstruated by age 15.

Coping with Turner Syndrome

You may have Turner Syndrome, and have to deal with its symptoms. You may be a parent who feels the stress of having a child with this condition. Coping with TS is never easy, but these strategies may ease feelings of disappointment and loss.

1. Emotional Support

A person with TS needs the security that kinship and friendship provide. She can rest easy knowing that her friends and family accept her for who she is.

2. Focus on the Positive

It also helps to view TS as a positive instead of an adverse condition. Being small-built has its advantages. A Turner Syndrome patient can easily squeeze onto crowded buses.

3. Self-Acceptance

A girl or woman with TS should never see herself as different from others. Other than her small size, she can live a fulfilling life.

4. Ask for help

Girls with TS shouldn't feel embarrassed to ask for help when necessary. It's no shame to ask a store assistant to retrieve products from high shelves.

5. Live life fully

Having Turner Syndrome isn't the end of the world. A woman with this condition has cognitive capabilities similar to or better than others. She cannot conceive but has other options, e.g., adoption and in-vitro fertilization.


In all, Turner Syndrome is never the end. A girl should embrace it without limiting beliefs.

© 2018 Michelle Liew

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    • midget38 profile imageAUTHOR

      Michelle Liew 

      37 hours ago from Singapore

      Hi R Talloni, Thanks for your comment and feedback! I just wish to draw attention to the plight of girls who suffer from this. They will feel comforted knowing that you empathize.

    • RTalloni profile image

      RTalloni 

      10 days ago from the short journey

      Thanks for this interesting introduction to Turner Syndrome. Useful in that you answer questions most of us wouldn't ordinarily be able form correctly, making this post valuable in so many ways.

    • ChitrangadaSharan profile image

      Chitrangada Sharan 

      10 days ago from New Delhi, India

      Thanks for sharing such an informative article about the Turner Syndrome. I had no idea about this, but now I can identify it with some of the cases I have seen.

      Just wish that some kind of early diagnosis and treatment is discovered soon in such cases.

      A very useful, informative and well written article. Thanks for sharing!

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