What is Turner syndrome?

Turner syndrome is a genetic condition. It occurs when a girl is born with only 1 X chromosome instead of 2 or is missing part of an X chromosome. About 1 in every 2,000 girls has Turner syndrome.

Girls with Turner syndrome tend to be shorter than average, and most do not go through typical sexual development (puberty). They may have other health problems, such as:

  • Congenital heart defects: About half of the girls with Turner syndrome also have some type of structural problem with their heart, such as bicuspid aortic valve or coarctation of the aorta
  • High blood pressure (hypertension)
  • Thyroid problems (hypothyroidism)
  • Hearing and vision problems
  • Structural differences in the kidneys
  • Problems with the fat levels (lipids) in the blood
  • Lymphedema (especially in the feet and hands)
  • Differences in bone development
  • Learning difficulties, but otherwise usually have normal intelligence

As an adult, they also have a higher-than-average risk of diabetes, obesity, coronary artery disease and stroke.

There is no cure for Turner syndrome. But with appropriate medical care, girls with this condition live full and productive lives.

Turner Syndrome at Seattle Children’s

Most families have never heard of Turner syndrome before their daughter is born with it. Our team is experienced in caring for girls with Turner syndrome from birth through age 21.

Contact the Heart Center at 206-987-2015, select option 1 and ask for the Turner Syndrome Clinic.

  • Our Turner Syndrome Clinic brings a team of specialists together to give your child and family coordinated, complete care. At a single visit, your daughter will see doctors specializing in:

    • Hearing (audiology)
    • Heart (cardiology)
    • Hormones (endocrinology)
    • Genetics

    As needed, we will arrange visits with other clinics, such as:

    • Adolescent gynecology
    • Bones, joints and muscles (orthopedics)
    • Ear, nose and throat (otolaryngology)
    • Kidney (nephrology)
    • Nervous system (neurodevelopmental medicine)
    • Nutrition

  • We treat your whole child, not just her symptoms. Members of the Turner syndrome team have special training in their field and in the unique needs of children.

    But you know your child best. We understand Turner syndrome affects different girls in different ways and will work with you and your child to develop a care plan that meets her specific needs. You and your child are active partners in making treatment choices.

    As your daughter reaches adulthood, we’ll help with the transition to adult-focused providers.

  • Seattle Children’s Turner syndrome clinic is part of the Turner Syndrome Global Alliance and the Turner Syndrome Registry.

Services We Offer

At each appointment, you and your child will meet with the endocrinologist, cardiologist and geneticist/genetic counselor to coordinate care and medicines and to answer your questions.

Services provided through the clinic include:

  • Hearing screening and care
  • Hormone therapy to address growth and development
  • Heart screening and treatment, including echocardiography
  • Lifestyle management for a healthy heart
  • Genetic counseling
  • Reproductive counseling
  • Screening for autoimmune thyroid disease
  • Bone health management

The Turner syndrome clinic meets 12 times a year:

  • Eight times a year at Seattle Children’s main campus
  • Four times a year at Seattle Children’s outreach clinic at Providence Women and Children’s Pavilion in Everett (does not include audiology)

Clinic visits are 2 to 3 hours.

Meet Your Team

Members of the Turner syndrome clinic have special training and experience working with girls who have Turner syndrome and their families. The team includes:

Pediatric endocrinologists

Pediatric cardiologist

Geneticist

We will coordinate with specialists in other medical disciplines as needed.

Resources for Patients and Families

Contact Us

Contact the Heart Center at 206-987-2015, select option 1 and ask for the Turner syndrome clinic.