Turner syndrome

Turner syndrome is a genetic condition that only girls develop. It can affect their growth and development and sometimes their hearts. Working together, our genetic and cardiac specialists offer the support and treatment necessary for Turner syndrome to restore your child’s heart function and general well-being.

What is Turner syndrome?

Usually female children have two complete X chromosomes, which contain some of their DNA. Turner syndrome is a condition where female children are missing a partial or full X chromosome.

With Turner syndrome, these genetic differences result in many changes to the body which may include:

• Being unusually short
• Heart defects
• Hearing problems
• Delayed sexual development
• Cognitive challenges

What causes Turner syndrome?

Turner syndrome is a genetic condition, but it isn’t inherited from a parent. Rather, Turner syndrome occurs because of unexpected chromosome changes that develop in the egg or sperm. Because these changes happen at random, it’s unlikely that a family will have more than one child with Turner syndrome.

Turner syndrome symptoms

Children with Turner syndrome may experience a wide range of symptoms, such as:

• Obstructed blood flow
• High blood pressure
• Thyroid problems
• Hearing and vision problems
• Kidney problems
• Higher levels of cholesterol and other fats called lipids
• Problems with bone development
• Learning difficulties

Turner syndrome isn’t always immediately apparent. In some cases, it’s not diagnosed for several years – not until a child seems noticeably short for their age. In other cases, Turner syndrome isn't identified until the typical age for puberty. The changes that usually occur during puberty may be delayed in someone with Turner syndrome.

Turner syndrome diagnosis

We can often diagnose Turner syndrome before birth with a simple blood test. Health care providers may include this test in standard, noninvasive prenatal screening. We may also recommend Turner syndrome screening if a prenatal ultrasound shows that your baby has heart or kidney abnormalities or fluid buildup (edema).

We diagnose Turner syndrome in babies, children and teenagers with genetic testing to examine their chromosomes. We also check for heart conditions with diagnostic tests, including:

• Blood tests
• Echocardiogram
• MRI

Turner syndrome treatment at Advocate Children’s Hospital

Our cardiac geneticists can help your child manage Turner syndrome in many ways, including hormone therapy, to support growth and sexual development. If your child has a congenital heart defect such as coarctation of the aorta, we offer surgery and other treatments to help. Learn more about our cardiovascular genetics program.