Klinefelters+Syndrome

Klinefelter Syndrome:  =Watch!=

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= = Klinefelter ’s syndrome, or karyotype 47,XXY, is a com mon genetic disorder that affects males of all racial and ethnic groups. It is caused by a chromosomal error in which an extra X chromosome is inherited along with the normal XY chromosomes. This type of error is classified as a // trisomy //, where there is a third chromoso me that does not correspond. This happens due to //nondisjunction*// during meiosis.
 * What it is: **

= = *//nondisjunction//: failure of paired chromosomes to separate, disjoin, during cell division. Both chromosomes go to a single daughter cell and non e to the other (remember that there are always 2 daughter cells per every mother cell). = =

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<-- The karyotype*, with one extra X chromosome, confirms the disorder. Thre are 47 chromosomes.

//Karyotype//*: analysis of the patient's chromosomes taken from a blood sample. = =

= = 1. Physical development: = = 2. Language development: = = 3. Social development: = =
 * Klinefelter ’s syndrome affects the victim in 3 main ways: **
 * Babies: weak muscles; seat, crawl and walk later than other children; small or undescended testicles.
 * Age of 4: taller, less muscle coordination than other boys
 * Puberty: less testosterone, more female sex hormones; taller (due to long legs); less muscular, less facial and body hair, broader hips, larger bones, low energy levels
 * Adulthood: infertility, look similar to normal men but taller, more likely to get certain health problems
 * Learn to talk late
 * Take longer to learn how to read and write
 * Speech and auditory impediments (trouble using language to express themselves, trouble to process what they hear)
 * Babies: quiet, undemanding and less active
 * Teens: quiet and shy, have trouble to fit in
 * Adults: live similar lives to regular men
 * Problems in: critical thinking skills, problem solving, ability to plan, impulse control, response time, multi-tasking

= = Based on studies conducted in the 1970’s, the XXY chromosome arrangement occurs as frequently as 1 in 500 to 1 in 1000 male births. It is one of the most common genetic anomalies known. = = Nevertheless, although the syndrome’s cause (an extra sex chromosome) is common, the syndrome itself (symptoms and characteristics) is uncommon. There are many men born with the extra chromosome who live their lives without getting any symptoms, therefore they don’t even suspect that they have an extra chromosome! = = Basic symptoms: = =
 * Breast enlargement, also known as // gynecomastia // (occasional)
 * Overweight (very likely)
 * Taller than friends and brothers (very likely)
 * Overweight (likely)
 * Lack of facial and body hair
 * Rounded body type
 * Infertility
 * Language impairment
 * Learn to speak much later than do other children
 * Have difficulty learning to read and write
 * Most tend to have overall difficulty with language throughout their lives, but they can speak and converse normally

= = **History:** = = 1942:  A team of doctors of the Massachusetts General Hospital in Boston published a report about 9 men who had sparse facial and body hair, enlarged breasts, small testes and were unable to produce sperm. The leader of the team was Dr. Klinefelter, whose name accounts for the name of the syndrome. = = Late 1950s: Researchers discovered that men with Klinefelter ’s syndrome had an extra X chromosome. Therefore their chromosome configuration was XXY, instead of the usual XY. = = Early 70s: Researchers world-wide made inquiry to identify males having the extra chromosome by checking the chromosomes of many newborn babies. The Institute of Child Health and Human Development checked the chromosomes of over 40,000 babies. = =

= = = = While Klinefelter syndrome is genetic, it is not usually hereditary in the conventional sense. Klinefelter syndrome is not inherited, it does it "run in families.", but instead it is usually the result of a random event that occurs during the formation of reproductive cells. = =
 * How it occurs and why: **

No one knows what puts a couple into risk of conceiving an XXY child as there is no way to detect a carrier of this disorder. Advanced maternal age increases the risk only a slight bit. Plus, half of the time the extra chromosome comes from the father. = = Cells destined to become sex cells (sperm, egg) undergo the process of meiosis. In this process, the 46 chromosomes in the cell separate and therefore produce two new cells with 23 chromosomes each. Nevertheless, beforemeiosis is completed chromosomes pair with their corresponding chromosomes and exchange genetic material. In women, the X chromosomes pair up; in men X and Y chromosome pair up. After this process, the chromosomes usually separate and the meiosis continues. However, somet imes the X&X or the X&Y chromosome fail to pair up and exchange genetic information. This is why they move into the same cell, producing an egg with XX or a sperm with XY chromosomes. = = XXY male is conceived when: == = =
 * When a sperm having both an X and a Y chromosome fertilizes an egg having a single X chromosome
 * A normal Y- bearing sperm fertilizes an egg having two X chromosomes

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 * Benefits: **
 * Although there are many men that have an extra X chromosome, not a lot have Klinefelter ’s syndrome symptoms. In fact, many men live their lives without even suspecting that they have an extra chromosome.


 * It is not a life threatening disease.


 * There are many support groups and online communities willing to help XXY males and families with an XXY son.

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 * For the most part, symptoms are treatable:
 * When necessary, breast size can be reduced by surgery
 * Testosterone Replacement Therapy: Regular injections of testosterone (male hormone), beginning at puberty can promote strength and facial hair growth as well as bring out a more muscular body structure and a deeper voice.
 * Fertility treatment increase the possibility of this men fathering children.
 * Language disability can be compensated. Chances of success are greater if begun in early childhood. There are several possible educational strategies to help boys with this syndrome.
 * As adults, they might difficulty with reading and writing, but they can still be successful workers and have normal lives with friends, family and a job!

= = = = = = = = = = = = = = Social: = = XXY males usually have a harder time integrating into the community that surrounds them since they have several social and linguistic impairments. Growing up with Klinefelter ’s is not easy as it can be very frustrating (especially for those boys that are not diagnosed) because usually males with this disease are shy and lack self-confidence. Kids can be mistaken for being naturally dumb and lazy when they really have no control over that matter. Also, some have temperament problems and therefore being even less sociable. Nonetheless, symptoms can be controlled and the victim can learn to cope with them so that they lead a relatively normal life, having friends, family and other normal social relationships. = =
 * Limitations: **
 * Gives males a feminized physique and they are infertile
 * They have speech and hearing impairments, which also affects their learning ability. This can make them socially shy and lack confidence. Often, they are mistaken for being dumb and lazy.
 * Unfortunately, there is no cure because currently there is no treatment to change a person’s chromosomal pattern.
 * XXY males have higher chances of getting certain diseases (autoimmune disorders, vein diseases, osteoporosis, tooth decay and even breast cancer). Since Klinefelter ’s syndrome usually comes accompanied with overweight, they also have more chances to suffer diabetes.
 * Factors that affect it: (social, economic, cultural ,ethical,) **

= = Ethical: = = Although not directly related to victims of the disease, this factor is still relevant because it is the people around the XXY males who have to face ethical challenges. For instance, in 2002 the elective abortion rates showed that about 50% of pregnancies in the United States diagnosed with Kinfleter’s syndrome resulted in abortion. So, this raises obvious questions: how much of an ethical act was abortion in these cases? How ethical is abortion itself? = = Furthermore, this factor is also relevant because it is the other people on the community whose behavior towards them shows a bit of a lack of ethics: they discriminate these men/ boys without knowing what their condition entails. Even parents themselves often have unsupportive approaches toward their child since they just consider him “naturally dumb and lazy” and the fact that there could be something abnormal in his genetics does not cross their mind. Moreover, some parents are concerned that their sons may grow up to be homosexual and therefore view them very much differently than if they had normal son. This concern is unfounded indeed, as there is no evidence that XXY males are any more inclined toward homosexuality than are other men. = =

= = = =  Works Cited = = Bock, Robert. “Understanding Klinefelter Syndrome.” //National Inst. of Child Health & Human Development//. National Insts. of Health, 15 Aug. 2006. Web. 13 Mar. 2012. . = = “Klinefelter Syndrome.” //Genetic Science Learning Center//. Learn.Genetics, 2012. Web. 13 Mar. 2012. . = = “Klinefelter Syndrome - Topic Overview.” //WebMD//. Healthwise, 7 Feb. 2011. Web. 13 Mar. 2012. . = = “Klinefelter- The Disease.” //eMedTV//. eMedTV, 22 Oct. 2006. Web. 13 Mar. 2012. . = = Richmond, Daniel. //Klinefelter’s Syndrome by Daniel Richmond//. //YouTube//. N.p., 19 Jan. 2010. Web. 13 Mar. 2012. . = = = =  Works Cited = = Cartoon. //National Institute of Child Health & Human Development//. National Institutes of Health, 15 Aug. 2006. Web. 13 Mar. 2012. . = = Carver, Billy. “Re: Klinefelter syndrome and color blindness.” Cartoon. //MadSci Network//. Vanderbilt U., 23 Apr. 2007. Web. 13 Mar. 2012. . = = Leja, Darryl. “Klinefelter Syndrome.” Cartoon. //AAFP (American Academy of Family pf Physicians)//. National Human Genome Research Institute, National Institutes of Health, 1 Dec. 2005. Web. 13 Mar. 2012. . = = Moritzbiopd4. “KLINEFELTER’S SYNDROME.” //Klinefelter’s Syndrome//. Wikispaces, n.d. Web. 13 Mar. 2012. . = =
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