Turner syndrome, a medical disorder that affects about 1 in every 2,500 girls, is a genetic condition in which a female does not have the usual pair of two X chromosomes. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function.
Turner syndrome (TS) was first described in 1938 by Dr. Henry Turner, an endocrinologist, who noted a set of common physical features in some of his female patients. It is the result of a chromosomal abnormality in which a female infant is born with only one X chromosome (instead of two) or is missing part of one X chromosome.
In most cases, untreated females with this disorder are short in stature (average final adult height is 4 feet 7 inches) and may have a variety of associated physical features and medical problems.
Because females with TS don't have proper ovarian development, they usually don't develop all of the secondary sexual characteristics expected during adolescence and are infertile as adults. However, advances in medical technology, including hormonal therapy and in vitro fertilization, can help women with this condition.
Girls with TS usually have normal intelligence, but some may experience learning difficulties, particularly in mathematics. Many also have a problem with tasks requiring spatial skills, such as map reading or visual organization. Hearing problems are also more common in girls with Turner syndrome.
Although they aren't at increased risk for psychological problems, some girls do have problems with body image or self-esteem and some may also be hyperactive.
Despite the physical differences and other problems that can occur, with appropriate medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.
Upon physical examination, a doctor may note certain physical features of Turner syndrome, which can include:
Girls with TS can vary widely in their characteristics or symptoms. Some have many features or symptoms; others have only a few.
A special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical characteristics may be noted at birth, which can alert a doctor to the possibility of TS and prompt him or her to order a karyotype. Results that indicate TS will reveal 45 chromosomes (only one X chromosome) instead of the normal 44 autosomes and 2 X chromosomes (XX) typically found in females. In some girls with TS, two X chromosomes are present, but one is misshapen or missing a piece.
Because TS is a chromosomal disorder, there's no cure for the condition. However, a number of treatments can help:
Most girls with Turner syndrome have normal intelligence. However, some have learning problems, and early consultation with a developmental pediatrician may help them.
Girls with TS can be screened to determine whether cognitive problems may affect their education. Also, a special battery of tests called psychoeducational evaluation can be used to identify specific problems. Your daughter's doctor can help you determine whether this testing is appropriate for her.
The Turner Syndrome Society of the United States stresses the importance of assessing your daughter's intellectual, learning, motor skills, and social maturity before enrolling her in kindergarten. If learning problems are identified, early preventive and intervention strategies, if needed, can help.
Although your daughter may have specific medical problems and different physical characteristics caused by Turner syndrome, you can do many things to help her develop daily living skills and cope with new or challenging situations (note: height-related issues may be less important to girls who undergo improved growth with growth hormone treatment):
Remember that although Turner syndrome can affect your daughter in many ways, it's only a small part of her total physical, emotional, and intellectual being.
Don't hesitate to enlist the help of her doctor, developmental pediatrician, or other medical specialists and mental health professionals. And don't let your daughter's diagnosis or medical problems define who she is.
Reviewed by: Judith Ross, MD
Date reviewed: September 2011
|Turner Syndrome Society of the United States This nonprofit organization's mission is to increase public awareness and understanding of Turner syndrome and provide a forum where those affected by Turner syndrome can become acquainted with others.|
|Genetic Science Learning Center (GSLC) GSLC is a joint project of the University of Utah Eccles Institute of Human Genetics and School of Medicine and the Utah Museum of Natural History, which helps people understand how genetics affect their lives and society.|
|Human Growth Foundation The Human Growth Foundation is a resource for kids and teens with growth problems.|
|Genetic Testing Advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses.|
|Growth Disorders Everyone grows and matures differently. Usually, this is totally normal. A growth disorder, however, means that a kid has abnormal growth - for example, growing a lot slower or a lot faster than other kids the same age.|
|What Is a Growth Disorder? The other kids in the class have been getting taller and developing into young adults, but your child's growth seems to be lagging behind. Could a growth disorder be the cause?|
|Turner Syndrome Turner syndrome is a genetic disorder that affects about 1 in every 2,500 females. Read this article to learn more about the condition and how doctors treat Turner syndrome.|
|Congenital Heart Defects Congenital heart defects involve abnormal or incomplete development of the heart. Learn about the different types of congenital heart defects.|
|Encouraging a Healthy Body Image A healthy and positive body image means liking your body, appreciating it, and feeling grateful for its qualities and capabilities. Parents can help kids develop a healthy body image.|
|Birth Defects Many parents assume that all birth defects are severe or even fatal, but many are treatable, often immediately after birth - and sometimes even before the baby is born.|
|Growth Problems In most cases, teens who are small are just physically maturing a bit more slowly than their friends. Occasionally, though, there's a medical reason why some kids and teens stop growing. Find out about growth problems and how doctors can help.|
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