Located on the seventh floor of the Novak Center for Children’s Health in downtown Louisville, the Norton Children’s Turner Syndrome Clinic brings together many specialists who treat children with this rare genetic disorder.
If your child has been diagnosed with Turner syndrome, ask your health care provider about the care we provide.
For more information, call (502) 588-3400.
Treatment can allow girls and teens to overcome many of the symptoms of Turner syndrome, such as short stature and lack of sexual development.
Specialists with Norton Children’s Endocrinology, Norton Children’s Heart Institute and Norton Children’s Genetic Center — all affiliated with the UofL School of Medicine — work with your family, and a nurse coordinator and social worker provide guidance and support to your child’s care.
Your child also is connected to the comprehensive network of health care providers at Norton Children’s, who will collaborate with you and your care team on any issues that may arise.
Turner syndrome may not always be apparent, and with treatment there may be few, if any, outward signs of the condition. Most girls who don’t get treatment are shorter than their peers, with an average final adult height of 4 feet, 7 inches.
Girls typically are born with two X chromosomes. Boys typically have an X chromosome and a Y chromosome. Turner syndrome occurs when a girl is born with only one X chromosome, called monosomy X, or a partial second X chromosome. About 1 in every 2,000 to 2,500 girls has Turner syndrome. Most children do not inherit Turner syndrome.
Treatment can address short stature and undeveloped secondary sexual characteristics, such as lack of breast development and no menstruation, that often accompany Turner syndrome.
Turner syndrome symptoms can be addressed effectively or resolved through appropriate medical intervention.
Complications of Turner syndrome can include kidney, heart, vision and thyroid conditions. High blood pressure, obesity, Type 2 diabetes and abnormal bone development also may be a part of Turner syndrome.
A child with Turner syndrome is more likely to have congenital heart defects, such as valve abnormalities including bicuspid aortic valve, coarctation of the aorta and atrial or ventricular septal defect.
At the Norton Children’s Turner Syndrome Clinic, our board-certified and fellowship-trained specialists have the experience and expertise to manage symptoms, give your child the support she needs and put her on a path to healthy adulthood.
The physical signs of Turner syndrome can be difficult to spot. The condition is diagnosed through a physical exam. Some girls may have many features of the condition; others may have few.
A blood test that looks at chromosome makeup is the only way to know for certain. Results that show 45 chromosomes instead of the usual 46 chromosomes indicate Turner syndrome.
Physical signs of Turner syndrome can include:
At the Norton Children’s Turner Syndrome Clinic, our specialists are at the forefront of Turner syndrome treatment. Your child will get a customized plan to guide them through their growth that may include the following.
Hormone replacement therapy addresses a deficiency in certain hormones that often accompanies Turner syndrome. Medication to replace these hormones can help with puberty and the onset of breast development and menstruation.
Short stature, another characteristic of Turner syndrome, can be helped with growth hormone therapy. These regular injections can help improve growth and increase final adult height.
Monitoring growth, evaluating heart health, checking hormone levels and assessing any other specific needs are part of regular medical check ups at the Turner Syndrome Clinic.
Turner syndrome sometimes can affect a child emotionally. Support from family, friends and health professionals is crucial to help children with Turner syndrome thrive. The Turner Syndrome Clinic nurse coordinator and social worker can help make sure your child gets the support and educational resources she needs.
You can help your child develop daily living skills and cope with new or challenging situations.