Basic information for topics, such as “What is it?” and “How many people are affected?” is available in the Condition Information section. In addition, Frequently Asked Questions (FAQs) that are specific to a certain topic are answered in this section.
Is Turner syndrome inherited?Can Turner syndrome be prevented?What complications can occur with Turner syndrome?Is Turner syndrome considered a disability?My daughter has been diagnosed with Turner syndrome. Now what?
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.
Only about 1% of pregnancies in which the fetus has Turner syndrome result in live births. The others end in miscarriage.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
About 5% to 10% of girls with Turner syndrome have a constriction of the aorta. This is the main blood vessel that moves blood out of the heart to the rest of the body. The constriction can be corrected with surgery. About 30% of 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
About 33% of 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.
About 33% of women with Turner syndrome have thyroid disorders. 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.
Between 4% and 6% of 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 problems learning mathematics and with memory.7 Most girls and women with Turner syndrome lead a normal, healthy, productive life 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.
For more information, visit the NICHD Turner syndrome website or read the guide for families (PDF - 1.4 MB) produced by the Turner Syndrome Society.
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