Turner syndrome is a genetic disorder in girls caused by a missing or defective X (female) chromosome. It occurs in 1 of 2,000-2,500 live female births.
What are the symptoms?
There are many different physical features associated with Turner syndrome. Not all girls have all symptoms, and in many cases the signs are hard to detect. Girls with Turner syndrome may have:
- short stature (affects almost all girls with Turner, to different degrees)
- failure of ovaries to develop (90-95% of girls)
- webbed neck (25%) or short neck (40%)
- abnormal fingernails and toenails (70%)
- low hairline at neck (40%)
- heart defect (30%)
- kidney or urinary tract defect (30%)
- hearing disorders (50-90%)
- frequent ear infections in childhood (75%)
- shortening of bones in the hands (35%)
- lower jaw smaller than normal (60%)
- drooping eyelids (ptosis), wandering eyes (strasbismus)
How is it diagnosed?
If a physician suspects a girl may have Turner syndrome because she is not growing at a normal rate, and perhaps has one or more of the other signs of the syndrome, a chromosome analysis will be done. Finding the specific chromosome problem of the syndrome is the only definitive diagnosis.
How is it treated?
There are two main medications given to girls with Turner syndrome. One is human growth hormone, used to increase the girl's growth rate and help her be taller. The other medication is estrogen, a female hormone, to replace the estrogen which would normally have been produced by the ovaries. Another female hormone, progesterone, is also given when the girl grows older, to help her have a normal monthly menstrual cycle.
Since a girl with Turner syndrome usually does not have ovaries, she cannot produce eggs and become pregnant when she grows up. However, some women with Turner syndrome can use in vitro fertilization to become pregnant, using donated eggs. Other women choose to adopt children in order to have a family.
Early diagnosis important
The signs and symptoms of Turner syndrome may be hard to recognize. However, it is important for girls with the syndrome to be identified as soon as possible so that hormone treatments can offer the most benefits possible. Early diagnosis and treatment will help prevent some of the chronic health problems that can occur in women with the syndrome, such as osteoporosis and diabetes.
Information for this article was taken from:
- Ross, J. L., St. Dennis-Feezle, L. K., Weber, C. (2002). Turner syndrome: Toward early recognition and improved outcomes. Accessed at Medscape.com.
- Turner Syndrome Society. Turner Syndrome.
