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 related 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 (the physical changes or features that usually develop at puberty) during adolescence and are infertile (the inability to become pregnant) as adults. However, advances in medical technology, including hormonal therapy and in vitro fertilization, can help women with this condition.
Other health problems that may happen with TS include kidney and heart abnormalities, high blood pressure, obesity, diabetes mellitus, vision problems, thyroid problems, and abnormal bone development.
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 also might be hyperactive.
Despite these physical differences and other problems, with appropriate medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.
During a physical examination, a doctor may look for 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 Turner syndrome show 45 chromosomes instead of the normal 46. 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 set of tests (called psychoeducational evaluation) can identify specific problems. A girl's doctor can help determine whether this testing is appropriate for her.
The Turner Syndrome Society of the United States stresses the importance of assessing a girl'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 due to 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 have 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: Elana Pearl Ben-Joseph, MD
Date reviewed: October 2014
Originally reviewed by: Judith Ross, MD
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