Basic information for topics, such as “What is it?” is available in the About Turner syndrome section. Answers to other frequently asked questions (FAQs) specific to Turner syndrome are in this section.
Turner syndrome is usually not inherited, but it is genetic. It is caused by a random error that leads to a missing X chromosome in the sperm or egg of a parent.
Very few pregnancies in which the fetus has Turner Syndrome result in live births. Most end in early pregnancy loss.1
Most women with Turner syndrome cannot get pregnant naturally. In one study, as many as 40% of women with Turner syndrome got pregnant using donated eggs.2 However, pregnant women with Turner syndrome are at increased risk for high blood pressure during pregnancy, which can result in complications, including preterm birth and fetal growth restriction.
Women with Turner syndrome also are at risk for aortic dissection during pregnancy. This happens about 2% of the time. An aortic dissection is a tear in or damage to the inner wall of the aorta, the major artery carrying blood to the heart. Damage to the aorta's inner wall causes blood to flow rapidly into the lining of the aorta. This can restrict the main flow of blood through the aorta or cause the aorta to balloon—a condition called an aneurysm (pronounced AN-yuh-riz-uhm). An aneurysm can rupture, which can be life-threatening.3
Turner syndrome cannot be prevented. It is a genetic problem that is caused by a random error that leads to a missing X chromosome in the sperm or egg of a parent. There is nothing the father or mother can do to prevent the error from occurring. However, there are many options for treatment.
Ear malformations and hearing problems are common in people with Turner syndrome. They may need hearing aids as children or adults. Girls with Turner syndrome may be prone to ear infections.4
Some girls with Turner syndrome have a constriction, or narrowing, of the aorta. Many girls with Turner syndrome have an abnormal valve between the heart and the aorta. The abnormal valve usually does not cause symptoms, but it can lead to infection of the valve or damage to the aorta.5 Heart defects are the major cause of premature death in people with Turner syndrome.6
Many people with Turner syndrome have abnormalities in their kidneys. However, these usually do not cause problems.5 The only reported effect has been an increased risk for urinary tract infections.
People with Turner syndrome are at high risk for type 2 diabetes. Researchers are not sure why this is so, but because diabetes can cause many medical complications, women with Turner syndrome should be checked regularly for diabetes.
Many women with Turner syndrome have osteoporosis, a condition that causes bone fractures. Women with Turner syndrome are at higher risk for osteoporosis because their bodies do not make enough estrogen. Estrogen is a hormone that helps to maintain bone density. Women who are given estrogen can lower their risk of osteoporosis.
Many women with Turner syndrome also have a thyroid disorder. The most common is hypothyroidism, an underactive thyroid. Symptoms include decreased energy, intolerance to cold, and dry skin. This condition is easily treated with medication.
Some people with Turner syndrome have gluten intolerance, also called celiac disease.5
Turner syndrome is not considered a disability, although it can cause certain learning challenges, including with learning mathematics and with memory.7 Most girls and women with Turner syndrome lead normal, healthy, productive lives with proper medical care.
If your daughter has been diagnosed with Turner syndrome, you may be wondering what to expect as she grows up. A few of these questions, with answers, are listed here.
- Will she mature normally?
- Most girls with Turner syndrome do not mature typically. They may not develop breasts or start getting a period. Estrogen treatment can replace hormones that the body doesn't naturally produce, spurring development and preventing osteoporosis.
- Will she have problems in school?
- Some girls with Turner syndrome have difficulty with arithmetic, visual memory, and visio-spatial skills (such as determining the relative positions of objects in space). They may also have some trouble understanding nonverbal communication (body language, facial expression) and interacting with peers.8
- What care will she need as she grows up?
- Girls and women with Turner syndrome usually require care from a variety of specialists throughout their lives.
- Will she be able to have a normal sex life as an adult?
- Women with Turner syndrome can enjoy normal sex lives.
- Will she be able to have children?
- Most women with Turner syndrome cannot get pregnant naturally. Those who can are at risk for blood pressure-related complications, which can lead to premature birth or fetal growth restriction. Pregnancy also is associated with increased risk for maternal complications, including aortic dissection and rupture.
- Morgan, T. (2007). Turner syndrome: Diagnosis and management. American Family Physician, 76, 405-410.
- Bodri, D., Vernaeve, V., Figueras, F., Vidal, R., Guillén, J. J., & Coll, O. (2006). Oocyte donation in patients with Turner's syndrome: A successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Human Reproduction, 21, 829-832.
- Practice Committee of the American Society for Reproductive Medicine. (2012). Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome. Fertility and Sterility, 97, 282-284.
- Bondy, C. A. (2007). Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. Journal of Clinical Endocrinology & Metabolism, 92, 10-25.
- Turner Syndrome Society. (n.d.). About Turner Syndrome. https://www.turnersyndrome.org/about-turnersyndrome .
- BMJ Evidence Centre. (n.d.). Best practice: Turner syndrome. Retrieved June 27, 2012, from http://bestpractice.bmj.com/best-practice/monograph/1106/diagnosis/step-by-step.html
- Turner Syndrome Society. (n.d.). Turner Topic: Patient Guide to Turner Syndrome. http://docs.wixstatic.com/ugd/8fb9de_4377c0963dfc4e649e5055e68038eae6.pdf (PDF 706 KB)
- Stanford School of Medicine Center for Interdisciplinary Brain Sciences Research. (n.d.). Turner syndrome. Retrieved June 26, 2012, from https://cibsr.stanford.edu/publications.html#turner-syndrome