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Turner Syndrome

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Turner Syndrome Turner Syndrome also known as Ullrich- Turner Syndrome or Gonadal dysgenesis, is a chromosomal disease that affects only females wherein one of the two X-chromosomes is defective or completely absent. . The name “Turner Syndrome” comes from an endocrinologist, Dr. Henry Turner, who first described the collection of findings in 1938 (Chen et al., 2006). The first published report of a female with a 45,X karyotype was in 1959 by Dr. Charles Ford and colleagues in Harwell, Oxfordshire (Chen et al., 2006). It was found in a 14-year-old girl with signs of Turner syndrome. Having one X-chromosome was identified soon after this. The prevalence of Turner syndrome is widely reported as being approximately one per 2,000 live female births, …show more content…

Turner syndrome may be suspected through ultrasound test. It can be confirmed by prenatal testing with chronic villous sampling or amniocentesis in order to obtain cells from the unborn baby for chromosomal analysis. The diagnosis is then confirmed by a blood test called a karyotype. A karyotype1 is used to analyze the chromosomal composition of the female. There has been a recent study that’s has demonstrated an accurate test for early diagnosis of Turner …show more content…

Ullrich- Turner Syndrome can affect proper development of several body systems. There are a number of expected complications that will occur including heart problems, cardiovascular disease, hearing loss, kidney problems, immune disorders, dental problems, visual impairments, skeletal problems, pregnancy issues and thyroid issues. Defects in the main blood vessel leading out of the heart (aorta) increase the risk of a tear in the inner layer of the aorta (aortic dissection). A defect in the valve between the heart and the aorta may also increase the risk of a narrowing of the valve that cause heart problems. Cardiovascular disease is due to the increase of developing diseases of the heart and blood vessels. Hearing loss is due to the gradual loss of nerve function. One-third of girls with Turner syndrome can increase the chance in urinary tract infections and hypertension dealing with kidney problems. Immune disorders result in low production of hormones important for controlling heart rate, growth and metabolism. Girls with TS are more than likely to suffer from crowded and poor teeth because of the shape of the mouth and palate. Strabismus, eyes to not work parallel and appear to be looking in different directions, are more common among young girls with TS. Problems with growth can increase abnormal curvature of the spine known as scoliosis, and brittle bones known as osteoporosis. Women with TS who become pregnant develop gestational diabetes and aortic dissection.

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