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Genetic Disorders Klinefelter’S Syndrome and Albinism

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Genetic Disorders Klinefelter’S Syndrome and Albinism 06 분당분원 - 손승연 (Chrity) 손승연 Genetic Disorders Klinefelter’s Syndrome and Albinism Dedication First of all, I spent a lot of time completing my thesis. erefore, I would like to dedicate my thesis to myself. Secondly, my parents provided me many ideas on this particular topic and tried to let me work on my thesis as comfortably as possible. us, I dedicate my thesis to my parents. Next, my teacher, Mi-Ran Lee has advised me on my writing and read this long thesis just for me to improve my skills. ere- fore, I dedicate my thesis to Miss Lee. (Or, maybe in the near future, Mrs. Lee!) Most importantly, there are numerous professionals that provided me the information I needed to write my thesis. I also dedicate my thesis to all of them. Everyone thanks a lot. List Of Tables (Table 1) Symptoms of the variants of Klinefelter’s Syndrome1 Chromosome complement Phenotype Klinefelter syndrome but tends to be milder - e presence of a proportion of normal cells reduces the risk of developmental delay 46XY/47XXY and fertility may be possible - Testosterone treatment may not be indicated - Boys tend to be taller with long lower extremities 48XXYY - IQ is generally reduced with speech and motor delay more commonly occurring - May result in a more abnormal phenotype with hypertelorism, epicanthic folds, simple ears and mild prognathism. 48XXYY - Stature is tall and there may be skeletal abnormalities including clinodactyly, elbow abnormalities, and radioulnar synostosis. - Mild to moderate mental retardation associated with a passive personality is oen observed (Table 2) Features of Klinefelter’s Syndrome1 Growth and · Neonates with Klinefelter syndrome are generally unremarkable with normal growth parameters feeding · Height velocity tends to be increased by 5 years of age ; therefore, individuals tend to be taller than their peers, with an increase in leg length · Slight delay in motor development possible - approximately two thirds have a delay in walking · Language milestones may also be delayed, particularly when compared to siblings Development · By 4 years of age, verbal-intellectual skills lag behind nonverbal skills and behavior · Overall IQ tends to be lower than that of siblings · However, development is variable with some boys showing no delay at all · Shyness, lack of assertiveness and immaturity are common features - the delay in language skills is thought to be a contributing factor · Aggressive behaviour has been reported due to frustration, but is not characteristic Personality · Some report an increased incidence of attention decit and hyperactivity disorder characteristics · Adolescents may lack condence, which can limit academic and physical success · Due to problems in childhood, some individuals may experience social and emotional problems later in life · Sexual development is normal in infancy and childhood · e normal adolescent elevation of testosterone tends to plateau at 14 years of age. Serum levels remain low and so by mid-puberty, FSH and LH gonadotrophin levels have risen · Testicular growth is arrested, resulting in a reduced testicular size throughout adulthood Endocrine · Progressive hyalinisation and brosis and reduced number of Leydig cells result in low levels of testosterone and infertility · Sexual function is normal but the ejaculate contains no sperm · Gynacomastia can occur in adolescents, which may or may not regress · Although facial, axillary and pubic hair growth is observed, this is to a lesser extent than would be expected in normal males 1 NHS Evidence. “Klinefelter Syndrome.” NHS Evidence. Oct 2005. < http://www.library.nhs.uk/geneticconditions/viewresource.aspx?resID=104897 > 08 분당분원 - 손승연 · Increased incidence of mitral valve prolapse, as well as an increased risk of cardiovascular disease due to increased cholesterol levels - can be reduced with testosterone treatment Cardiovascular · Research indicates an increased incidence of chronic leg ulcers, possibly associated with testosterone deciency or vascular abnormality · ere is an increased incidence of certain autoimmune diseases including systemic Immunological lupus erythematosis, diabetes mellitus and thyroid disturbances · Recent studies have not shown an overall increased risk of cancer in klinefelters syndrome. however there is an increased incidence (<1%) of extragonadal germ cell tumours : Neoplasia - Usually occur in the mediastinum - Individuals may present with respiratory symptoms, particularly between adolescence and the age of 30 - In younger boys these tumours may result in precocious puberty Dental · Taurodontism (enlarged tooth size with reduced root size) and early tooth decay may occur (Table 3) Patients of Albinism2 (Table 4) Patients of Albinism3 (Table 5) Albino Dolphin4 2 Author Unknown. “Albinism.” Google. Date Unknown. <http://images.google.co.kr/imglanding?imgurl=http://farm2.static.ickr.com/1359/613261448_645a634f_m.jpg&imgrefurl= http://deputy-dog.com/2007/06/albinism-in-popular-culture.html&usg=__DbatM1vj87gKAPWqDjBYRr-FwVo%3D&h=240&w= 240&sz=36&hl=ko&um=1&tbnid=2YPMKeUDGPiM:&tbnh=110&tbnw=110&prev=/images%3Fq%3Dalbinism%26complete%3 D1%26hl%3Dko%26lr%3D%26sa%3DN%26um%3D1%26newwindow%3D1&q=albinism&complete=1&lr=&sa=N&um=1&neww indow=1&start=9> 3 Author Unknown. “Albinism.” Google. Date Unknown. <http://images.google.co.kr/imglanding?imgurl=http://www.cnb.uam.es/~montoliu/albinism.gif&imgrefurl=http://www.cnb. uam.es/~montoliu/albinism.html&usg=__Taq8VqlRxEehS9nH965HrzJLpqA%3D&h=423&w=480&sz=183&hl=ko&um=1&tbnid =vkN4iMcIpwanxM:&tbnh=114&tbnw=129&prev=/images%3Fq%3Dalbinism%26complete%3D1%26hl%3Dko%26lr%3D%26 sa%3DN%26um%3D1%26newwindow%3D1&q=albinism&complete=1&lr=&sa=N&um=1&newwindow=1&start=0#start=0&i mgurl=http://www.cnb.uam.es/~montoliu/albinism.gif> 4 Author Unknown. “Albino.” Google. Date Unknown. <http://images.google.co.kr/imglanding?imgurl=http://www.wildlifeextra.com/images/albino-dolphin.jpg&imgrefurl=http:// www.wildlifeextra.com/go/news/albino-dolphin376.html&usg=__jQDinOieIDuU9vvK1LVqyRIVIlY%3D&h=256&w=500&sz=91 &hl=ko&tbnid=pWapocojMFn3vM:&tbnh=67&tbnw=130&prev=/images%3Fq%3Dalbino%26gbv%3D2%26ndsp%3D20%26h l%3Dko%26sa%3DN%26start%3D20%26newwindow%3D1&q=albino&gbv=2&ndsp=20&sa=N&start=21&newwindow=1> Abstract Because most genetic disorders are rare, the patients oen get much attention, which is more negative than positive. I think that those patients getting such treatments are unfair. erefore, I made up my mind to have accurate knowledge about the genetic disorders and understand them with objectivity, especially Klinefelter’s syndrome and albinism. First, I introduced what are genetic disorders. Second, I researched about the frequency, causes, symptoms, and treatments of Klinefelter’s syndrome. ird, I researched about frequency, causes, diagnosis, symptoms, treatments, and lives of the patients of albinism. Introduction In the book named <Classic Myths of Yun-Gi Lee>, the story of Hermaphroditus and Salma- cis is mentioned. Hermaphroditus was the son of Hermes and Aphrodite, as seen in his name. When he was een years old, he reached one lake while traveling around. e nymph named Salmacis, who was living in that lake fell in love with him but was rejected. She prayed to the Gods that they have to become one, and they really become one, with both the properties of male and female. I had read it very interestingly, because it explained the origin of modern day hermaphro- dite, an organism having both male and female reproductive organs. I’m fascinated by the fact that the patients of Klinefelter syndrome is in a way similar to Hermaphroditus, and I decided to research Klinefelter’s syndrome more. I love fantasy novels, especially those with characters who have colorful hair and eyes. en one day, my school science teacher told us about albinism. She said that because of the problems in their pigment, people with albinism are dierent in appearance with us, such as white hair and red eyes. When I heard it, I was surprised that people who seem like they just popped up from the fantasy books actually exist. I came back home and browsed Albinism on the Internet. ere are some images, and I thought it was beautiful but in the same time can be painful to the patients. Klinefelter’s syndrome and albinism are both rare genetic disorders. I assume not much people have seen the patients of Klinefelter’s syndrome or albinism around them. As a result, the patients receive much attention, which is more negative than positive. And of course, they suer a lot from such interest. I saw the videos in YouTube, which are taken by one girl (ID 10N3star) who has 10 분당분원 - 손승연 albinism. She talks about basic information and common misconceptions of albinism. From her candid speeches, I realized that perceptions of people are more serious than what I thought. I think that those patients getting such treatments are unfair. ey didn’t want the genetic disorders; it’s just the abnormalities in their genes, and those are out of their willpower. erefore, I made up my mind to have accurate knowledge about the genetic disorders and understand them with objectivity. Of various genetic disorders, I chose Klinefelter’s syndrome and albinism, which are usually well-known by people and are more likely to happen than other genetic disorders. First, I introduced what genetic disorders are. Second, I researched about the frequency, causes, symptoms, and treatments of Klinefelter’s syndrome. ird, I researched about frequency, causes, diagnosis, symptoms, treatments, and lives of the patients of albinism. Body Genetic Disorder A genetic disorder is an illness caused by abnormalities in genes or chromosomes. Most disorders are quite rare and aect one person in every several thousands or millions. Genetic disorders may also be complex, multifactorial or polygenic, this means that they are likely associated with the eects of multiple genes in combination with lifestyle and environmental factors. Multifactoral disorders include heart disease and diabetes. Although complex disor- ders oen cluster in families, they do not have a clear-cut pattern of inheritance.
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