What is it?
Did you know Klinefelter Syndrome is likely to happen once for every 500 to 1000 baby boys born? This means that it is a syndrome, which can be easily spotted in society, considering its great frequency, more than that is known to be one of the most common syndromes worldwide (Britannica School Edition). The Klinefelter Syndrome is a chromosomal mutation named after doctor Henry Klinefelter, who found several symptoms the mutation had (Britannica School Edition). This chromosomal mutation can also be described as XXY, used as a way to depict a male who possesses an extra X in most of its chromosomes and its chromosome composition is not 46,XY but 47, XXY (Genetics Home Reference). The mutation generates many physical problems within the male that was born with this chromosomal mutation. In terms of physical dysfunctions Klinefelter’s Syndrome produces a male to have small and firm testes considering the lack of testosterone production. This reduced amount of testosterone being produced also causes the male’s body to obtain breast enlargement scientifically called gynecomastia (Britannica School Edition). Furthermore reduced facial and corporal hair as well as infertility is also results of the scarce amount of testosterone that is produced by a male when having Klinefelter Syndrome (National Institutes of Health) . The syndrome provokes the male to be taller than other normal people their age when being either a teenager or an adult though it also makes the male’s bones very weak and the male’s energy level to be very low in comparison to a XY male (Britannica School Edition). The Klinefelter syndrome physically is not very evident when a male is an adult though many are infertile and or produce very little sperm (Britannica School Edition).
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The mutation can also be noted to affect the language, social and brain condition of a male though this depends on the chromosome composition. As I stated before the Klinefelter Syndrome occurs when a male receives an extra X in the chromosome therefore becoming a XXY human being. This chromosome composition is the most classic Klinefelter Syndrome though there are other mutations that can be seen and that are not as common but have more negative impacts. These are 48,XXYY or 48,XXXY or 49,XXXXY and finally 49,XXXYY and they are the one’s that can bring a greater impact in the male (Genetics Home Reference). The problems the mutation generates in the language are the fact that 25 to 85 percent of the XXY males have trouble reading, understanding what is said (National Institutes of Health). In terms of social when the male is a baby it tends to be very tranquil and quiet and as the male grows it becomes more shy and each time less confident and much less active (National Institutes of Health). When the male is a teenager it may suffer problems in school ad sports though as an adult everything becomes normal and they have a lot of social life (National Institutes of Health).
How does it occur?
The chromosomal mutation, Klinefelter Syndrome, occurs by the simple idea of having at least one extra X chromosome in the male’s chromosomal composition (Hows Health). Not only does it occur when you have one extra X chromosome but it also occurs when you have more than two X’s and one Y in your chromosomal build up, as the examples I listed above such as XXXY (Hows Health). Most of us may wonder how someone may end up with an extra X chromosome. Well this occurs in the meiosis process when the X and Y homologues chromosomes stay together and therefore do not separate, this being called a nondisjunction process (Hows Health). What happens next is that a sperm is produced containing X and Y chromosomes and that sperm fertilizes the woman’s egg with a X chromosome therefore when they combine you end up having XXY, this then is considered to be the male’s fault considering that what went wrong was the sperm (Hows Health). The extra X chromosome can also be the females fault when in the meiosis process, when instead of having X and Y stay together in the sperm you have X and X failing to separate in the egg (Hows Health). Therefore the egg has X and X chromosomes, this then leads the offspring to have a XXY composition after the sperm with a Y chromosome bonds with the egg (Hows Health). The rare Klinefelter Syndrome’s or variations to the syndrome occur in a very unique manner this means that in humans and mammals there is something called the X-inactivation, this inactivation allows only one X to be expressed on the chromosomal composition (National Human Genome Research). What happens in the variations is that the X-inactivation fails in its work and allows more than one X chromosome to be expressed in a male and that’s when the variations appear (National Human Genome Research). Then also other extra factors that lead this chromosomal syndrome to occur are the parents’ age, race, season the baby was conceived and technological assistance for birth. It has been proven that the older the parents are the more likely the disjunction process is within the conception of the offspring (Genetics Home Reference). Also studies show that Vietnamese parents are more likely to have babies conceive this chromosomal syndrome rather than other races. The season is also something vital considering that it is thought that through may to July the chance of a baby to have Klinefelter syndrome is greater (Genetic Home Reference). Finally the assistance reproductive technology has been something that has been seen to provoke more chromosomal abnormalities within an offspring (Genetic Home Reference).
As all chromosomal syndromes the Klinefelter Syndrome has many limitations regarding the effects and everything that surrounds the syndrome. The limitations the syndrome portrays are plenty and they are evident and present from the very beginning of an offspring’s life. When the offspring is a baby it possess weak muscles this then is a limitation considering that most of the basic physical activities are learned when we are babies (Texas Department of State Health). This then does not permit the baby to learn how to throw a ball or be able to move on its own and little by little become independent. This then connects to the very slow motor development the baby has in its early years considering that it does not have strength and more forth it is hard for the baby to coordinate (Texas Department of State Health). This then is a limitation considering they learn how to walk and sit up at later stages giving them a disadvantage over other babies who will be able to practice sports and move around freely before they do. As well as this lack of interaction when they are babies heavily damages their growth in later stages of their life considering that they did not build the base of their life properly. The Klinefelter Syndrome also provokes baby males to have a delay while speaking this means that they are not able to talk until later stages of their life (Texas Department of State Health). This makes it hard for the males to express themselves especially with the needs most babies have and also it creates a malfunction on the baby that can be noted at puberty when other problems arise. Finally in the early years of their life the male does not have a proper testicle development this means that not much testosterone will be produced and the reproductive system can be damaged (Texas Department of State Health). This then signalizes a great disruption on the male’s growth throughout their future life considering that the testicles are a vital part in a male’s development.
Furthermore, limitations to the syndrome can also be noted when a male is a teenager and an adult considering negative effects occur within a male. First of all the body composition the male receives meaning long legs, short torso and wide hips, are a limitation taking into account the fact that this inhibits the male from being great at sports (Genetics Home Reference). Moreover it may be the cause for which many are bothered and this causes a sense of insecurity within them something that may stop them from doing many things. Then also the reduced size of the penis and the reduced size of the testicles are also negative considering that the male can’t reproduce and or make babies (Genetics Home Reference). Sometimes it is also hard for them to have sex and this may damage their relationship considering that sex involves a great part of marriage. Moreover, the small testicles are a signal that the male can’t produce much testosterone, which is also a limitation, considering every male needs testosterone to be fully a male. The reduced amounts of testosterone causes change in the male and also make the male have female traits rather than manly traits. A reduced quantity of energy level caused by the Klinefelter Syndrome is considered a limitation especially in the teenage stage of a male contemplating the fact that they do not have the energy to exercise or study (Genetics Home Reference). This therefore generates a bad physical development as well as an untrained mind and also a lack of strength to do anything. Finally the syndrome causes males to have problems reading, writing, spelling and doing math, therefore making it hard for them to succeed in school, more than that making it hard for them to become normal beings capable of succeeding in life.
Finally in terms of limitations the Klinefelter Syndrome provokes, a great part of it is the increased tendency of having other lethal problems. The syndrome increases the chances of having varicose veins and also other complications that relate to blood vessels being negative for the health and inhibiting many activities the male may want to do (National Human Genome). There is also an increased chance of the male receiving breast cancer and different cancers of the blood, which can be detrimental to the health and normal life of a male (National Human Genome). Furthermore, there is an increased risk of lung cancer and also chronic bronchitis with male’s who possess the Klinefelter Syndrome, which can end with the male’s life and heavily affect the male’s breathing (National Human Genome). Finally sexual dysfunction is something that has a high percentage of happening when a male has the Klinefelter Syndrome (National Human Genome).
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On the other hand the Klinefelter Syndrome also has some benefits on its side regardless of it being such a detrimental syndrome for many males. First of all the Syndrome can be diagnosed through the Chromosome analysis that confirms if a male has the Klinefelter syndrome, this works by having blood removed from the male and then with that counting the number of chromosomes the male possess (CNN, Klinefelter Syndrome). This then is a benefit considering that it can be identified since early ages and therefore treated in the early stages reducing the negative effects. Also there are a variety of treatments that can be made in order to counter back the symptoms of the syndrome and also improve the overall male condition. An excellent treatment is the Testosterone Replacement therapy that consists in the fact of giving testosterone through injections to the male at the age he is starting puberty (CNN, Klinefelter Syndrome). This then results in the fact that the male develops normally meaning his voice gets deep, his penis grows, he gets hair and also increasing muscles mass as well as reduced breast tissue growth. Breast tissue removal is another treatment that is beneficial towards male with Klinefelter Syndrome taking into account that it is a plastic surgery that removes the extra tissue of the breast making it look normal therefore avoiding the breast enlargement effect as a lifelong issue (CNN, Klinefelter Syndrome). Another beneficial treatment in regard with the syndrome is the Fertility treatment that consists of having sperm being removed out of the testicles with a special needle, a biopsy, needle and then injecting it directly to the egg this way allowing a male to have a child (CNN Klinefelter Syndrome).
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Other benefits can also be seen throughout other types of treatments; these that do not require surgery but specialist help. The first one is speech and physical therapy that basically covers everything having to do with the speech and physical problems a person with Klinefelter Syndrome lives with (CNN, Klinefelter Syndrome). There are many centers that have different specialist who truly help people who have these problems and little by little the Klinefelter Syndrome males have less evident problems. In relation to this treatment another benefit is the fact that there is Educational Support for the male and this is positive considering that most of these have problems learning, this program gives them the opportunity to improve and therefore lead normal lives when being older (CNN, Klinefelter Syndrome). Psychological counseling is also a beneficial treatment for the Klinefelter Syndrome male possessor considering that it allows them to express their feelings and combat their fear and the terrible feelings they have within themselves (CNN, Klinefelter Syndrome). How is it related to economics?
The Klinefelter Syndrome can be closely related to economics, considering that much money and investment is input within this simple syndrome. Economic is seen in the Klinefelter Syndrome starting from the very existence of the syndrome, the reason why this is, starts from the simple fact that research had to be made. In order to have research made you have to have investors paying in order for scientists to be able to work and therefore discover the syndrome, as well as you have to have an investment on the scientists for them to be able to find this syndrome. This then can start from the government or the state paying for scientists to do research and or also companies such as the Genome Company doing research. Then also the Klinefelter Syndrome requires many treatments such as the testosterone replacement, Breast tissue removal, physical therapy, extra school help and many others that require money to be first of all studied and improved as well as implied. Also for a patient to receive those they need money and most likely a huge investment on their body in order for them to live a normal life. Furthermore, considering that many people have syndromes such as the Klinefelter Syndrome you have many insurance companies that arise in order for people to invest there for whichever need they might have. Finally the Klinefelter Syndrome is a syndrome that may arise a variety of problems if not treated carefully therefore, the investment on the body is necessary and if this is not made a higher price is paid when the needs become more serious therefore many medicines and doctors benefit from this considering the huge amount the patient needs to pay if it wants to survive.
How is it related to social?
Moreover, the Klinefelter Syndrome relates deeply to social being because it touches deeply the inclusion and responsibility the country has in relation to its citizens. First of all the Klinefelter Syndrome brought together many components this means it bonded diverse areas of knowledge and put them together. This means that different people such as scientists, therapists, doctors, pharmaceutical and even teachers are being employed and given jobs considering this syndrome, therefore what it is doing is generating jobs to many people from society. This then opens a new business of special teachers and doctors and pharmaceutical products and therefore you have more employees and also employees who maybe did not have a job or needed money and therefore everyone is benefitting. Even though many adults, most parents, are getting paid and being able to educate and feed their children, many are unemployed, with the growing knowledge of this syndrome more and more adults are receiving jobs. The Klinefelter Syndrome patients are also being included considering that they are taken into account in society and treated with a variety of different facilities for them to live a normal life once they are adults. Though many of these people who are treated required money and a good economy in order to pay all those treatments, so there are thousands of poor people who do not benefit from the services. This connects in a profound manner with social inclusion and the responsibility the country has considering that the country should provide facilities for people to treat themselves. It is important for the country to invest on health and therefore integrate the less favored people for them not to be excluded from the medical advantages that are proposed. More so it has been seen that the more developed countries are the one’s who invest on medical issues and that is why social and economy are so vital in relation to the syndrome considering that if this two components are done well then every single person in the country benefits. Source >>https://geneticmutationruebe3.wikispaces.com/Klinefelters+Syndrome