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:
- Short stature (height)
- Loose folds of skin on the neck (webbed neck)
- Heart or kidney problems
- Repeated ear infections with possible hearing loss
- The lack of puberty; underdeveloped breasts, no menstruation (no periods)
- Poor development of the ovary; lack of eggs for fertility
Not all girls/women with TS show all of these or other features.
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 :
- Cardiology exam by an expert in congenital heart disease
- Thorough blood pressure check
- Image studies of heart, aortic valve, aortic arch, and pulmonary veins by echocardiogram (for infants/young girls) or MRI (for older girls/adults)
- Remain under the care of a cardiologist for treatment and monitoring
- Periodic imaging, as recommended
- MRI when old enough to cooperate with the procedure
- Try to find a center with expertise in TS with a team approach, including members in these pediatric specialties:
- Occupational therapy
- Orthopedic surgery
- Speech therapy
- Cardiology exam, as outlined above
- Kidney ultrasound
- Have an audiologist check hearing
- Check for scoliosis/kyphosis
- Check growth and pubertal development
- Depending on the age of the girl or woman at diagnosis:
- Check for hip dislocation
- Eye exam
- Thyroid function test
- Check for orthodontic problems
- Ovarian function/hormone check
- Blood tests for kidney and liver function, blood sugar, cholesterol, blood counts, etc.
- Bone density test
- All ages
- Ongoing cardiovascular exams, as recommended
- Yearly blood pressure check
- Ear/nose/throat (ENT) and audiology every 1-5 years
- Girls aged 4-5 years
- Check social skills
- School age
- Liver and thyroid yearly
- Celiac screen every 2-5 years
- Dental and orthodontic as needed
- Older girls/adults
- Cholesterol and blood sugar yearly
- Liver and thyroid yearly
- Celiac screen, when recommended
- At appropriate age, check pubertal development and psychosocial adjustment
- Teaching about the condition and how to find support groups
- In girls diagnosed at age 4-10
- Educational/psychosocial testing
- School age
- Educational and social progress yearly
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.
- YourChild: Genetic Syndromes
- YourChild: Chronic Conditions
- YourChild: Siblings of Children with Special Needs
- YourChild: Non-verbal Learning Disability
- YourChild: Learning Disabilities—this page explains how to get help through the school system for a child with learning difficulties.
- YourChild: Disorders of Sex Development
- Turner Syndrome information from the National Institute of Child Health and Human Development—includes clinical features, genetic features, and Turner research at NIH.
- Turner Syndrome information for parents
- Turner Syndrome information for teens
- Growth Hormone Treatment for Short Kids is a commentary by a UMHS psychologist Dr. David E. Sandberg.
- Get the Facts: Growth Hormone Issues in Children and Adults, a brochure from the Hormone Foundation, includes information specific to Turner syndrome.
- The Turner Syndrome Society of the United States works to support people affected by Turner syndrome, further research, provide forums for exchange of support and information, and increase public awareness of the condition. They have local chapters.
- Information from the Turner Syndrome Society (including many resources for teens under “Resources submitted by members”)—includes information about deciding when and how to tell you have Turner syndrome, relationships, preparing for college, and how to navigate your way through a social gathering.
- Spanish language resources from the Turner Syndrome Society
- The MAGIC Foundation provides support services for the families of children with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child's growth, including Turner syndrome.
- Turner Syndrome Clinical Studies at the US National Institutes of Health.
- The National Organization for Rare Diseases (NORD) is dedicated to helping people with rare or “orphan” diseases through education, advocacy, research and service.
Written and compiled by Kyla Boyse, R.N. Reviewed by David E. Sandberg, Ph.D.
Updated May 2010