Turnerîs Syndrome is a chromosomal condition causing short stature and infertility in women and girls. Other manifestations of this syndrome include: webbing of the skin of the neck, absent or retarded development of secondary sexual characteristics, absence of menstruation, coarctation (narrowing) of the aorta, and abnormalities of the eyes and bones. The condition is either diagnosed at birth because of the associated anomalies, or at puberty when there is absence of menses and delayed development of normal secondary sexual characteristics.
Almost all girls with Turner's Syndrome do not enter puberty naturally. Usually their ovaries have deteriorated and no estrogen is being produced. The result is incomplete sexual development and infertility. Teens will begin taking small amounts of estrogen in order to develop secondary sexual characteristics and begin a monthly cycle. Turnerîs Syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in women. Best estimates put the frequency of Turnerîs Syndrome at 1 in 2,500 or 1 in 2,000 liveborn females. There is no known difference in frequency based upon race, location or socio-economic factors.
Turnerîs Syndrome is not associated with any environmental or any other factors generally associated with genetic problems. Despite many efforts, no real causes have been found to be linked to this condition. It appear be a random event that can happen to anyone. As a chromosomal condition, there is no "cure" for Turnerîs Syndrome as antibiotics can cure a strep throat. However much can be done. According to the Turnerîs Syndrom Society of the U.S.,
- Growth hormone, either alone or with a weak androgen, will improve growth velocity and probably final adult height. Growth hormone is approved by the Food and Drug Administration for treatment of Turnerîs Syndrome and is covered by many insurance plans. The average height of a woman with Turner's Syndrome is 4'8" tall. It may take her until age twenty to reach this height without medical intervention. This medicine may add up to four inches to her adult height and accelerate her growth. Not only are the added inches helpful, but reaching her height sooner helps her feel more like her peers.
- Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. They are also important for maintaining good tissue and bone integrity.
- Modern reproductive technologies have also been used to help women with Turner Syndrome become pregnant should they so desire. A donor egg is used to create an embryo through in-vitro fertilization, which is carried by the woman with Turnerîs Syndrome.
An article in the November 95 Fertility and Sterility looked at the outcome of ovum donation in Turner's syndrome patients. The pregnancy rates were about 25%. The article indicated that women with Turner's may not develop a normal endometrium and the prematurity risk may be increased. Also, there is a risk of aortic disection in pregnancy. The hormones needed to prepare the endometrium are very simply estrogen (orally, transdermally or by injection) and then progesterone (shots, gel or suppositories). After 10-12 weeks all these hormones are generated by the placenta so the patient gets off all meds by this time.
Heart problems, kidney problems or thyroid problems are the most frequent health problems in women with this disorder. However, these are usually not too serious. They do require good, consistent medical care and management by a qualified sub-specialist. Also, not everyone has every problem associated with this condition.
There is no connection between Turnerîs Syndrome and mental retardation. There may be some differences in learning style that make verbal learning come more easily, and math or spatial problems a bit more difficult. However with determination and patience any differences can usually be surmounted or compensated for. As with anything else, positive reinforcement and encouragement enable Turnerîs Syndrome women to lead productive, successful lives in the career path of their choice.
For more information:
Turner's Syndrome Society
1313 Southeast 5th Street, Suite 327
Minneapolis, Minnesota 55414 USA
Tel: (800) 365-9944
Fax: (612) 379-3619
Fertil Steril 1995 Nov;64(5):995-8
Press F, Shapiro HM, Cowell CA, Oliver GD
Department of Obstetrics
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