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Embryology
Explain what the clinical signs would be in a Turner syndrome patient
Turner syndrome patients are females born with a missing or incomplete X chromosome. As a result of this chromosomal abnormality, Turner syndrome girls have ovaries that function improperly, and because of their 'syndrome' they are infertile. Their lack of estrogen means they are at risk for health difficulties such as osteoporosis and thyroid problems later in life. They tend to be shorter, and physically, they have folds of skin from the tops of their shoulders to the sides of their neck, a lower hairline, and lower-set ears when compared with other women (Turner Syndrome," Medline 2007).
Because it is a chromosomal abnormality, there is no formal cure for Turner syndrome, but there are some treatments for its symptoms ("Turner Syndrome," Medline, 2007). Growth hormone often helps girls grow taller. Hormone replacement can stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. But fertility problems are only one of the health issues individuals with Turner syndrome must face. They also have twice the risk of Type II Diabetes, as "it appears that the muscles of many persons with Turner syndrome fail to utilize glucose efficiently ("Clinical Features of Turner Syndrome," NIH, 2007). Abnormally shaped kidneys, which may need surgical correction, can lead to high blood pressure, although even women without this problem can suffer both high blood pressure and kidney problems. "10% of children with Turner syndrome are found to have a severe constriction of the major blood vessel coming out from the heart," which must be surgically corrected ("Clinical Features of Turner Syndrome," NIH, 2007). Turner syndrome children also may exhibit certain minor difficulties learning math and spatial concepts, although their verbal ability is usually unaffected ("Clinical Features of Turner Syndrome," NIH, 2007).
Works Cited
Clinical Features of Turner Syndrome." Published by the National Institute of Health
NIH). 2007. 18 Sept 2007. http://turners.nichd.nih.gov/ClinFrIntro.html
Turner Syndrome." Medline. 2007. 18 Sept 2007. http://www.nlm.nih.gov/medlineplus/turnersyndrome.html
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