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Turner Syndrome

What is Turner syndrome (TS)?
Turner syndrome is a genetic condition that occurs in females who have only one X chromosome, instead of the usual two. Sometimes they are missing part of the second X-chromosome. Missing all or part of one X chromosome can cause:

Not all girls/women with TS show all of these or other features.

To learn more about genetics and to better understand how genes cause syndromes, see YourChild: Genetic Syndromes.

How common is TS?
Turner syndrome affects about 1 in 2500 females.

How do we test for Turner syndrome?
If your daughter has some of the physical features listed, then she should be tested for TS. She can have a blood test done (karyotype) to check for the absence of all or part of one X chromosome. She may need to have an ultrasound to check her uterus and ovaries. The chance of having another child with TS is very small. You may still want to talk to a genetic counselor.

What is the treatment for Turner syndrome?
There is no cure for TS but there are lots of treatments to help your daughter in many ways. It is very important to make sure that your daughter receives a complete evaluation and regular follow-up visits with health care professionals experienced in caring for girls and women with TS. The skills required to care for persons with TS can not be found in any single doctor or other health care professional.

Below is a guide to medical care for girls and women with TS, based on the Turner Syndrome Study Group’s clinical care guidelines [1]:

Cardiovascular
At diagnosis:

Follow-up:

Medical
At diagnosis:

Follow-up:

Psychological/Educational
At diagnosis:

Follow-up:

For more information on health care, see the Turner Syndrome Consensus Study Group’s clinical practice guideline on the care of girls and women with Turner syndrome. This may be helpful to share with your pediatrician.  It’s also available as a pdf document

Growth hormone is sometimes given to increase the height of a girl with Turner syndrome.  Estrogens (female hormones) can also be given starting at about 13 years of age to promote the development of secondary sex characteristics (for example, pubic hair and breasts), however girls with Turner syndrome will commonly be infertile (not able to make eggs for a baby) even after hormone therapy.

Girls with Turner syndrome have a higher than average chance of having a Nonverbal Learning Disabililty (NLD) and/or ADHD.  Parents and schools should watch for school problems and be ready to test for them and help

Parents can have the same dreams and expectations for a daughter with Turner syndrome that they would have for any child.

Where can I find out more and get support?

References

Written and compiled by Kyla Boyse, R.N.  Reviewed by David E. Sandberg, Ph.D.
Updated May 2010

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U-M Health System Related Sites:
U-M Pediatrics
C.S. Mott Children's Hospital

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