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Turner Syndrome

  • Melanie Haiken, M.A.
  • Posted March 11, 2013

Some girls are born with a genetic condition known as Turner Syndrome, which causes a group of related symptoms including short stature, late sexual development, and infertility. First recognized in 1938 by a doctor named Henry Turner, the condition occurs when one of the two X chromosomes is either missing or abnormal, with some genetic material missing.

Turner Syndrome is relatively common, occurring in about one of every 2,500 baby girls born. However, the severity of the syndrome varies widely and many girls are not recognized to have the condition until they reach puberty and fail to develop breasts or get their periods. Girls with Turner Syndrome may also have some noticeable physical characteristics such as a webbed neck -- in which the head is attached closely to the shoulders -- or eyelids that look droopy.

Effects of Turner Syndrome

If left untreated, girls with Turner Syndrome will remain very short -- typically 4' 8" or less -- and will not reach full sexual maturity. Their ovaries don't develop normally, resulting in infertility. Some additional complications can occur, including skeletal abnormalities, hearing loss, liver dysfunction, heart and kidney abnormalities, and thyroid dysfunction. If your doctor suspects Turner Syndrome, he will conduct a blood test to screen for the genetic anomaly that causes the condition.

Unlike some other genetic conditions, Turner Syndrome does not cause mental retardation or decreased intelligence. However some girls with Turner Syndrome have learning disabilities, especially in areas involving spatial skills, such as math. They may struggle with tasks such as puzzles and map-reading, or those involving visual organization.

There is no direct connection between Turner Syndrome and psychological difficulties, but girls with Turner Syndrome may struggle with low self-esteem and negative body image due to their differences from other girls. "The features associated with Turner Syndrome can be highly visible," says Dr. David Sandberg, a professor of psychiatry at the University of Buffalo in New York. "It can affect their ability to connect with others." Sandberg says some girls with Turner Syndrome have difficulty with intimacy and "don't develop the same depth of friendships as other girls. They recognize this, and it's hard on them." Sandberg advises parents to encourage their daughters' social development by "getting them involved in group activities where the burden isn't on them to initiate." Sandberg also advises all parents of girls with Turner Syndrome to have them evaluated for learning disabilities.

Treatment options

Although there is no complete cure for Turner Syndrome, many of the characteristics of the syndrome can be treated. If your doctor suspects Turner Syndrome, he will conduct a blood test to screen for the genetic anomaly that causes the condition. Sex hormones such as estrogen and progesterone can be administered at puberty to bring on sexual development and treatment with growth hormone is very effective in bringing girls with Turner Syndrome close to normal height. The infertility associated with Turner Syndrome occurs because the ovaries don't develop fully. While the infertility itself can't be cured, girls with Turner Syndrome can undergo in vitro fertilization and carry a baby to term. Girls with Turner Syndrome who are hypothyroid can be treated with thyroid hormone, which will also promote bone growth.

As they mature and realize that they are different from their peers, girls with Turner Syndrome may feel isolated, which can lead to depression and self esteem problems. It can help to put them in touch with other girls who have the condition through one of the Turner Syndrome organizations. The Turner Syndrome Society is a good place to start: www.Turner-Syndrome-us.org or 800-365-9944.

References

Endocrine Society's Turner Syndrome web page: http://www.endo-society.org/pubrelations/patientInfo/turner.htm

Turner Syndrome Society: http://www.turner-syndrome-us.org/http://www.turnerssyndrome.org

Sandberg, Professor of Pediatric Psychiatry and Psychology Children's Hospital of Buffalo (New York)

Turner Syndrome: A Guide for Families -- Pamphlet (43 pages) produced by the Turner Syndrome Society

Nemours Foundation. Turner Syndrome. January 2005. http://www.turnersyndrome.org/

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