Because many girls with triple X syndrome are healthy and have a normal appearance, they may remain undiagnosed all their lives, or the diagnosis may be discovered while checking other issues. Triple X syndrome can be confirmed by genetic testing — chromosome analysis using a blood sample.
Before genetic testing, it's important to receive genetic counseling to get comprehensive information about triple X syndrome.
The chromosome error that causes triple X syndrome can't be repaired, so the syndrome itself has no cure. Treatment is based on symptoms and needs. Options that may be helpful include:
- Periodic screenings. Your daughter's doctor may recommend periodic screenings throughout childhood. If any developmental delays, learning disabilities or health problems occur, she can then receive prompt treatment.
- Early intervention services. These services may include speech, occupational, physical or developmental therapy, starting in the early months of life or as soon as needs are identified.
- Educational assistance. If your daughter has a learning disability, she can receive educational help to learn techniques and strategies to be successful in school and daily life.
- Supportive environment and counseling. Girls with triple X syndrome may be more prone to anxiety, as well as behavior and emotional problems. So make sure your daughter has a supportive environment. And psychological counseling may help teach you and your family how to demonstrate love and encouragement, and discourage behaviors that might negatively impact learning and social functioning.
- Assistance and support in daily functioning. If your daughter has developmental delays, this assistance and support may include help with activities of daily living, social opportunities and employment.
Coping and support
It's quite possible for your daughter to lead a full and happy life. However, sometimes help and support is needed. Both you and your daughter may benefit from these strategies:
- Connect with others. Support groups provide help and support for people with X and Y chromosome disorders and their families. They offer information and advice on coping, as well as ways to meet and talk with others in similar situations. Ask your daughter's doctor or therapist if there is a local support group for similar types of disorders. You can also contact AXYS — association for X and Y chromosome variations.
- Look for disability support resources. Coping with a learning disability is challenging. Get information on available services and sources of support. One example is the National Center for Learning Disabilities. Ask your daughter's school or therapist for information on additional resources.
- Find ways to relieve stress. It's natural to feel overwhelmed at times. Talk about your concerns with a trusted friend or family member to help relieve your stress. Take some time for yourself doing something you like to do. Seek the help of outside caregivers who can give you a break from time to time.
Preparing for your appointment
Here's some information to help you get ready for your appointment, and what you might expect from your doctor. Preparing ahead of time can help you make the most of your time with the doctor. You may want to bring a family member or friend to the appointment for support and to help you remember information.
What you can do
Before your appointment, make a list of:
- Any symptoms you've noticed in your daughter, including any that may seem unrelated to the reason for the appointment
- Your daughter's developmental milestones and when she met them, such as learning to say her first word or learning to walk
- Key personal information about your pregnancy, including any significant illnesses you may have experienced or any medications that you may have used
- Any problems your daughter may be having with learning, emotions or behavior
- Questions to ask your child's doctor
Some basic questions to ask the doctor include:
- What's the most likely cause of my daughter's symptoms?
- What kinds of tests does she need? Do these tests require any special preparation?
- How might this condition affect her?
- What treatments are available, and which do you recommend?
- My daughter has other health conditions. How can we best manage these conditions together?
- What services are available if my daughter has developmental delays or learning disabilities?
- Are there any brochures or other printed materials that I can have? What websites do you recommend?
Don't hesitate to ask any other questions during your appointment.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Be ready to answer them to reserve time to go over points you want to focus on. Your doctor may ask:
- When did you first notice your daughter's symptoms?
- Does anything seem to improve the symptoms?
- What, if anything, appears to worsen the symptoms?
- Did your daughter achieve developmental milestones on time, such as learning to talk or walk?
- Has your daughter had any problems in school or other settings?
Aug. 16, 2017
- Triple X syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed Sept. 11, 2015.
- Trisomy X. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/trisomy-x/. Accessed Sept. 11, 2015.
- Triple X syndrome. Merck Manual Consumer Version. http://www.merckmanuals.com/home/children-s-health-issues/chromosomal-and-genetic-abnormalities/triple-x-syndrome. Accessed Sept. 11, 2015.
- Van Rijn S, et al. The social behavioral phenotype in boys and girls with an extra X chromosome (Klinefelter syndrome and trisomy X): A comparison with autism spectrum disorder. Journal of Autism and Developmental Disorders. 2014;44:310.
- Otter M, et al. Triple X syndrome: A review of the literature. European Journal of Human Genetics. 2010;18:265.
- Van Rijn S, et al. Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX. Genes, Brain and Behavior. 2015;14:200.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Sept. 25, 2015.
- Pichurin PN (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 20, 2015.