Diagnosis

Because many girls and women with triple X syndrome are healthy and show no outward signs of the condition, they may remain undiagnosed all their lives, or the diagnosis may be discovered while checking other issues. Triple X syndrome may also be discovered during prenatal testing to identify other genetic disorders.

If triple X syndrome is suspected based on signs and symptoms, it can be confirmed by genetic testing — chromosome analysis using a blood sample. In addition to genetic testing, genetic counseling can help you gain comprehensive information about triple X syndrome.

Treatment

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. The doctor may recommend periodic screenings throughout childhood and into adulthood. If any developmental delays, learning disabilities or health problems occur, prompt treatment can be provided.
  • 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 child has a learning disability, educational help to learn techniques and strategies to be successful in school and daily life can be provided.
  • Supportive environment and counseling. Girls and women with triple X syndrome may be more prone to anxiety, as well as behavioral and emotional problems. So make sure your child 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 child has problems that impact daily functioning, this assistance and support may include help with activities of daily living, social opportunities and employment.

Coping and support

It's quite possible for girls and women with triple X syndrome to lead full and happy lives. However, sometimes help and support are needed. Both you and your child 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 child's doctor or therapist if there is a local support group for people with 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 child'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. 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 child, including any that may seem unrelated to the reason for the appointment
  • Your child's developmental milestones and when they were met, such as learning to say first words 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 child 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 child's symptoms?
  • What kinds of tests does my child need? Do these tests require any special preparation?
  • How might this condition affect my child?
  • What treatments are available, and which do you recommend?
  • My child has other health conditions. How can we best manage these conditions together?
  • What services are available if my child 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 child's symptoms?
  • Does anything seem to improve the symptoms?
  • What, if anything, appears to worsen the symptoms?
  • Did your child achieve developmental milestones on time, such as learning to talk or walk?
  • Has your child had any problems in school or other settings?

Your doctor or mental health professional will ask additional questions based on responses, symptoms and needs. Preparing and anticipating questions will help you make the most of your time with the doctor.

Jan. 18, 2019
  1. National Library of Medicine. Triple X syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/triple-x-syndrome. Accessed Sept. 11, 2018.
  2. 47 XXX syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome. Accessed Sept. 11, 2018.
  3. Bacino CA. Sex chromosome abnormalities. https://www.uptodate.com/contents/search. Accessed Sept. 11, 2018.
  4. Wigby K, et al. Expanding the phenotype of triple X syndrome: A comparison of prenatal versus postnatal diagnosis. American Journal of Medical Genetics. Part A. 2016;170:2870.
  5. About AXYS. Association for X and Y Chromosome Variations. https://genetic.org/about/. Accessed Sept. 14, 2018.
  6. Mission and history. National Center for Learning Disabilities. https://www.ncld.org/mission-and-history. Accessed Sept. 14, 2018.
  7. Freilinger P, et al. Behavioral and psychological features in girls and women with triple-x syndrome. American Journal of Medical Genetics Part A. 2018;176:2284.
  8. Wick MJ (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 19, 2018.
  9. Chromosome Disorder Outreach. https://chromodisorder.org/. Accessed Jan. 6, 2019.