Turner syndrome is a genetic disorder that consists of a broad spectrum of features that vary in individuals, but usually have the common findings of short stature (average adult height: 4 feet 8 inches) and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.
Turner syndrome only occurs in girls and women. Females normally have two X chromosomes. Chromosomes are hereditary material in each cell of the body, that determine characteristics like gender and height. Turner syndrome is most commonly caused by a missing X chromosome. It affects 1 out of 2,000 live female births. It is usually sporadic, meaning that it is not inherited from a parent. In rare cases, a parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter; this is the only situation in which Turner syndrome is inherited.
A risk factor is something that increases your chance of getting a disease or condition. There are no known risk factors for Turner syndrome, other than being female.
There are many possible manifestations of this syndrome, but the main features include:
Other physical features can include:
Other health conditions that can occur include:
Depending on its severity, Turner syndrome may first be diagnosed in infancy, childhood, or adolescence.
There is no known cure for Turner syndrome. However, there are treatments for many of the associated problems. These include:
If given early enough in childhood, growth hormone can improve growth and increase final adult height by a few inches. However, not all children have a good response to growth hormone. Bone-lengthening surgery can increase the final height of children with Turner syndrome who have not responded adequately to growth hormone. However, this lengthy treatment requires multiple surgeries, long periods of disability, and risks many potential complications.
Estrogen replacement therapy induces the normal physical changes of adolescence, including breast growth and menstrual periods. Women with Turner syndrome usually take estrogen-progesterone treatment until at least menopause to protect their bones from osteoporosis.
Other medical problems are carefully monitored and treated, including:
From 5%-10% of children with Turner syndrome are found to have a severe constriction of the major blood vessel coming out from the heart, a condition known as "coarctation of the aorta". This can be surgically corrected as soon as it is diagnosed.
As many as 15% of adults with Turner syndrome are reported to have "bicuspid aortic valves," meaning that the major blood vessel from the heart has only two rather than three components to the valve regulating blood flow. It requires careful medical monitoring, since bicuspid aortic valves can deteriorate or become infected. In general, it is advised that all persons with Turner syndrome undergo annual cardiac evaluations.
In the absence of severe heart defects at birth, women survive into adulthood with normal intelligence. However, girls and women with Turner syndrome may have difficulty with specific visual-spatial coordination tasks (eg, mentally rotating objects in space) and learning math (geometry, arithmetic).
In 2006 the Turner Syndrome Consensus Study Group met to formalize a set of guidelines for life-long management of this disorder. Some specific recommendations (in addition to those above) include:
RESOURCES:
American Academy of Pediatrics
http://www.aap.org/
Turner Syndrome Society of the United States
http://www.turnersyndrome.org/
CANADIAN RESOURCES:
Caring for Kids
The Canadian Paediatric Society
http://www.caringforkids.cps.ca/
Turner's Syndrome Society of Canada
http://www.turnersyndrome.ca/
References:
Bondy C. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab. 2006 Oct 25. Available at http://jcem.endojournals.org/cgi/rapidpdf/jc.2006-1374v1.
Hahn SB, Park HW, Park HJ, Seo YJ, Kim HW. Lower limb lengthening in Turner dwarfism. Yonsei Med J . 2003 Jun 30;44(3):502-7.
Medline Plus website. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000379.htm .
National Institute of Child Health and Human Development website. Available at: http://turners.nichd.nih.gov/ClinFrIntro.html .
The Nemours Foundation website. Available at: http://www.nemours.org/index.html .
Turner Syndrome Society website. Available at: http://www.turnersyndrome.org .
Last reviewed November 2008 by Rosalyn Carson-DeWitt, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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