Turner syndrome is a genetic problem. Common problems from it are short height, absent or delayed puberty, and infertility. The condition can also lead to heart and blood vessel problems. These can be life-threatening.
Turner syndrome happens in girls and women. Girls and women have two X chromosomes. Turner syndrome is caused by a missing, partially missing, or changed X. It is not usually inherited from a parent.
Rarely, a parent carries changed chromosomes without knowing it. This can result in Turner syndrome in a daughter. It can only be inherited from a parent when both parent X chromosomes have been passed on.
There are no known risks that raise the risk of this health problem.
Problems may be:
- Swelling of the hands and feet
- Folds of skin at the neck
- Low hairline in back
- A broad chest with widely spaced nipples
- Problems feeding
- Short stature
- Learning problems
- Slowed sexual growth, which includes
- Lack of breast growth
- Absent periods
Copyright © 2002 Nucleus Communications, Inc. All rights reserved.http://services.epnet.com/getimage.aspx?imageiid=24622462si55550940.jpgFemale Reproductive OrgansNULLjpgFemale Reproductive OrgansNULL\\filer01\Intellect\images\si55550940.jpgCopyright © 2002 Nucleus Communications, Inc. All rights reserved.20NULL2002-10-012553912462_22503Copyright © Nucleus Medical Media, Inc.
Adults with Turner syndrome often cannot have children.
Turner syndrome may be found before birth using prenatal screenings, such as:
- Blood tests
- An ultrasound to look at the unborn baby
- An echocardiogram—to check heart function in the baby before or after birth
The doctor may also suspect Turner syndrome based on a child's features at birth. A blood test will be done to confirm it.
In adults, the doctor will ask about symptoms and past health. A physical exam will be done. This may be enough to suspect the diagnosis. A blood test will be done to confirm it.
There is no known cure. Monitoring will be needed throughout life.
The goal of treatment is to manage symptoms. Options are:
- Growth hormone—may help some children raise their adult height
- Hormone replacement therapy (HRT)—can help start puberty and spur growth; may also be taken until menopause to keep bones strong
There are no known guidelines to prevent this health problem.
- Gravholt CH, Viuff MH, et al. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019;15(10):601-614.
- Turner syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/turner-syndrome.
- Turner syndrome. Kids Health—Nemours Foundation website. Available at: https://www.kidshealth.org/en/parents/turner.html.
- Turner syndrome. National Institute of Child Health and Human Development website. Available at: https://www.nichd.nih.gov/health/topics/turner.
- Daniel A. Ostrovsky, MD
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