Turner's Syndrome: A Case Study
Early discovery is key when fighting a disease like Turner’s syndrome. In 1938 a gentleman named Henry Turner diagnosed the first set of patients with he believed was, “Turner’s syndrome” (Turner Syndrome Society of the United States, n.d.). At this time Mr. Turner was looking to explain why these, seven, people had been suffering from dwarfism and a developmental defect sexually. Unfortunately, there were probably thousands of people who were not diagnosed, and lacked the information needed for treatments. That is until Mr. Turner used his new found knowledge to diagnose his first set of people even though they lacked the knowledge to help with their symptoms (Turner Syndrome Society of the United States, n.d.). Although evidence was found
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This disease is not one of simple stature, in-fact there are many different ways that a woman can be affected by this disease. One-way is that the woman can only have one X-chromosome present; this is called monosomy X (Turner’s syndrome, 2012). Another way that someone can have this syndrome is that both X-chromosomes are present, but one has been rearranged or has missing genetic material; this is called mosaicism (Turner syndrome, 2012). Lastly, there are a small percentage of Turner syndrome cases that the Y-chromosome is present, which increases the risk for a cancer called gonadoblastoma; this condition is called Y-chromosome material (Turner syndrome, 2012). Thankfully, all of these conditions can be found before birth and treatment can be administered once the child is born (Turner’s syndrome, 2012). For doctors to diagnose this condition before birth a large quantity of fluid is pulled from the back of the neck or an ultrasound can monitor for kidney or heart abnormalities (Mayo Clinic Staff, 2014). After the child is born there are many more indicators that doctors can look for including a wide neck, a receding or small lower jaw, and low-set ears (Mayo Clinic Staff, 2014). During the stage of puberty and beyond a doctor can look for abnormalities in growth, learning disabilities, or a failure to begin puberty. Looking for signs, likes these and the many not listed, can be very important because starting hormone therapy is necessary for the girl to continue a normal
This disease is not one of simple stature, in-fact there are many different ways that a woman can be affected by this disease. One-way is that the woman can only have one X-chromosome present; this is called monosomy X (Turner’s syndrome, 2012). Another way that someone can have this syndrome is that both X-chromosomes are present, but one has been rearranged or has missing genetic material; this is called mosaicism (Turner syndrome, 2012). Lastly, there are a small percentage of Turner syndrome cases that the Y-chromosome is present, which increases the risk for a cancer called gonadoblastoma; this condition is called Y-chromosome material (Turner syndrome, 2012). Thankfully, all of these conditions can be found before birth and treatment can be administered once the child is born (Turner’s syndrome, 2012). For doctors to diagnose this condition before birth a large quantity of fluid is pulled from the back of the neck or an ultrasound can monitor for kidney or heart abnormalities (Mayo Clinic Staff, 2014). After the child is born there are many more indicators that doctors can look for including a wide neck, a receding or small lower jaw, and low-set ears (Mayo Clinic Staff, 2014). During the stage of puberty and beyond a doctor can look for abnormalities in growth, learning disabilities, or a failure to begin puberty. Looking for signs, likes these and the many not listed, can be very important because starting hormone therapy is necessary for the girl to continue a normal