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Turner Syndrome

Diagnosis

TS is generally diagnosed in utero, at birth or around the time a girl would normally be expected to go through puberty. During pregnancy, a fetus with TS can be diagnosed by an amniocentesis, or identified by abnormal ultrasound findings, such as a heart defect or kidney abnormality. If a baby girl shows physical signs of TS when she is born, she will be given a karyotype, a blood test which analyzes her chromosomal makeup by counting and identifying any abnormally shaped chromosomes or chromosomes that have missing pieces. In some cases, there are no recognizable signs that a girl has TS until she hasn't gone through puberty when she would normally be expected to.

Treatment

Because it a chromosomal condition that forms during fertilization, there is no cure for TS. There are a number of treatments, however, that can help correct some of the problems and minimize the symptoms of the condition.

  • Growth hormone - If started early enough, growth hormone treatment can improve growth and affect a girl's final adult height. Covered by most insurance plans and approved by the Food and Drug Administration for treatment of TS, growth hormone can help many girls reach a final height in the average range of a woman without TS.


  • Estrogen replacement - Since TS was first described by Dr. Turner in the late 1930s, estrogen replacement therapy has been used to promote development of secondary sexual characteristics, such as breasts, pubic hair and eventually menstrual periods. Estrogen replacement therapy is also beneficial in maintaining good tissue and bone integrity, and is typically started when a girl is about 12 or 13 years old.


  • Advanced reproductive technologies - Modern fertility techniques, such as in vitro fertilization, can make it possible for women with TS to become pregnant. A donor egg can be used to create an embryo which can be carried to term and delivered by a woman with TS as long as she has proper medical support.

Living with TS

TS can affect people in many ways, but the condition does not define a person's entire life. Women and girls with the condition may have a different style of learning, in which verbal skills come more easily while math or special learning is more difficult, but the majority of those with TS are able to attend regular classes and lead successful lives. For more information, visit the Turner Syndrome Society's Web site.

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