Turner Syndrome

UI Stead Family Children’s Hospital experts provide lifelong care for those with Turner syndrome to help them manage their symptoms and improve their quality of life.

Call us at 1-319-356-2229 for Turner syndrome care

Turner syndrome is a condition that only affects individuals assigned female at birth and occurs when one of the X chromosomes is missing or partially missing. Because of the range in symptoms that can occur, Turner syndrome can be diagnosed anytime between infancy and young adulthood.

At University of Iowa Stead Family Children’s Hospital, we provide coordinated, comprehensive care for your child that follows the most updated guidelines.

Because Turner syndrome can cause a variety of medical and developmental symptoms, our specialists collaborate to provide individualized, expert care that best supports each child's unique needs.

Turner syndrome symptoms and diagnosis

Symptoms of Turner syndrome can vary. Some symptoms are apparent at birth, while others may not develop until your child is a teenager or young adult. These include:

Short stature
Lack of ovarian development, leading to absence or inability to progress through puberty
Webbed neck
Chronic middle ear infections
Hearing loss
Distinctive heart and kidney abnormalities
Autoimmune disorders (thyroid or celiac disease)
Difficulties with spatial reasoning, nonverbal skills, memory, and attention

How our experts diagnose Turner syndrome

If a doctor suspects your child has Turner syndrome, they will administer a blood test known as a karyotype. This test will look at your children's complete set of chromosomes to determine if one or part of an X chromosome pair is missing.

If the karyotype returns normal but there is a strong suspicion for this condition, your doctor may order additional genetic testing to confirm or rule out a diagnosis.

Turner syndrome treatment from UI Stead Family Children’s Hospital

Because symptoms vary between individuals, each treatment plan is tailored to the unique needs of the patient. The primary treatments for most girls and women with Turner syndrome include:

Growth hormone: This is often needed to treat short stature. It can help improve health and bone growth.
Estrogen therapy: This helps facilitate progression through puberty but may continue throughout the patient's life.

Other treatments may be introduced based on specific health conditions that may arise, such as heart or kidney abnormalities, hearing loss, and mental health issues.

Turner syndrome clinic

Our Turner syndrome clinic is held at the Pediatric Subspecialty Clinic at UI Stead Family Children's Hospital on the first Wednesday of the month.

During this visit, your child will meet with multiple members of our team—typically specialists in endocrinology, nutrition, and psychology—within the same day. They may also meet with other physicians, as needed.

At the visit, the doctor will ask questions regarding your child's growth, nutrition, development, and puberty. Emotional health and challenges in school or with peer interactions will also be assessed. Height and weight measurements, blood pressure, and heart rate will be obtained, and a focused exam, blood work, or X-rays may also be performed.

Turner syndrome research opportunities

If you are interested in learning more about available research opportunities, please speak to your provider, or consider registering with the Turner Syndrome Research Database, a secure registry at the University of Iowa that provides information regarding active and upcoming research opportunities to Turner syndrome patients.