Hadly Hentschel
Rachel Reed
May 22, 2011
Klinefelter’s Syndrome
Klinefelter’s syndrome also known as the XXY syndrome is one of the most common genetic diseases that occurs in males. It affects every 1 in 500-1000 males. The variants of the syndrome are rarer, it only happens to about every 1 in 50,000 or fewer births. Most males are born with just an X and Y chromosome, but in this case there is an extra X chromosome. Some males who have the syndrome never experience the symptoms, but for more extreme cases they can have problems like poor upper body strength, appear to be taller than most people and uncontrolled shaking.
Klinefelter’s syndrome was discovered in 1942 by a man named Harry Klinefelter. He had studied 9 men who had enlarged breast, little facial hair/ pubic hair, small testes and had a problem producing sperm. In the 1950’s researches discovered men with Klinefelter’s had an extra sex chromosome. The arrangement is XXY instead of XY like normal males. In the 1970’s researchers discovered the extra chromosome by screening a large number of newborns. More than 40,000 infants had the syndrome. It is one of the most common genetic abnormalities. Some are able to live their whole like without ever knowing they had Klinefelter’s.
Most with the syndrome seem to be normal at birth but as they progress into mid puberty, their testosterone level is lower then average. This causes them to have small testicles, an inability to make sperm and wider hips. Around 25%-95% of them have some sort of language disability such as trouble expressing feelings and thoughts, learning to talk late, trouble processing what they hear and trouble reading. Socially most of the males tend to be quieter, less self confident, less active and more obedient then other boys. As teens they have trouble “fitting in” in school with sports and the other kids.
The condition itself can not be inherited. It randomly occurs during the formation of reproducing cells. There is an error in cell division that is called “non disjunction”, which means a reproductive cells that has an abnormal amount of chromosomes. If there is an “atypical” reproductive cell that helps the child, the child will have one or more X in each body cell.
Doctors diagnose it with blood test or parental testing. The blood testing is called a “karyotype”. The test looks at the persons chromosomes to determine whether they have Klinefelter’s or not. Recently kids who have the syndrome have been diagnosed before they were born. They test it with a CUS. (chorionic villis sampling) A fluid sample is placed around the fetus to examine the chromosome number. The procedure needs to be done in the 1st trimester of the pregnancy. Neither procedure is used commonly, it is only used when there is history with the genetic defects.
Most males have 46 XY chromosomes, but in this case the chromosomes are arranged like 47XXY as an extra copy of the gene. The individuals that have an extra X chromosome are described as have mosaic Klinefelter’s syndrome. Those who have the mosaic Klinefelter’s, have more mild signs and symptoms depending on the X chromosome. The variants of Klinefelters are caused by several extra copies of the X chromosome in the body. As the number of sex chromosomes increases so does the risk of birth defects, learning abilities and other health issues. The genetic cause of Klinefelter’s is one or more copies of an X chromosome.
In genetic diseases there are 3 different levels of disorders. Level 1 is a single gene disorder. Level 2 is chromosomal abnormalities. Level 3 is multifactorial disorders. Klinefelter’s is a level 2 because it has a extra chromosome which would make it a chromosomal abnormality. The syndrome affects every 1 in 500-100 males. The variants of it are rarer, it occurs in every 1 in 50,000 or fewer male births.
Many who have Klinefelter’s may never get any symptoms and be able to live their life normally, but those who have more severe cases will get the symptoms. The symptoms include poor upper body strength and being clumsy. ⅓ of the males with Klinefelters end up having enlarged breast. Most are taller than average and have longer limbs. Also includes uncontrolled shaking. 50% of the men have dyslexia. The more X chromosomes there are, the greater the disability is.
There is no cure for klinefelter’s syndrome. The prognosis has a better chance though, if you want to seek help you have to be in monetary health and get the treatment as early as possible. If men do get the treatment, they will be able to have a full active life and live to the expected life span. Men with the syndrome are at risk for breast cancer, obesity, osteoporosis, non-Hodgkin's lymphomas and auto immune diseases. The treatment men can get is educational treatment, therapeutic treatment and medic treatment.
The syndrome can affect different stages of physical, language and social development. It’s important to seek treatment as early as possible, this way those with Klinefelter’s can have successful careers and normal social relationships. The risk of having a child born with Klinfelter’s is not about anything the parents do or do not do. Although women over 35 have a slightly higher risk factor for having a child born with the syndrome. Other options to help men with Klinfelter’s are thing like testosterone replacement therapy, breast tissue removal, speech and physical therapy, educational counseling, fertility treatment and psychological counseling.
Bibliography
worldhealthtalk.net/genetic-disorders/ Anonymous, May 6, 2010
May 3, 2011 inernet
The Gale Encycolpedia of Genetic Disorders Blachford, L. Stacey, New york 2001,
May 3, 2011 book
ghr.nlm.nih.gov/condition/klinefelters-syndrome U.S National Library of Medicine, 2010
May 3, 2011 internet
genetics.emedtv.com/klinefelter-syndrome/klinefelter-syndrome-and-infertility.html
Clinareo, Inc. 2006 May 3, 2011 internet
Rachel Reed
May 22, 2011
Klinefelter’s Syndrome
Klinefelter’s syndrome also known as the XXY syndrome is one of the most common genetic diseases that occurs in males. It affects every 1 in 500-1000 males. The variants of the syndrome are rarer, it only happens to about every 1 in 50,000 or fewer births. Most males are born with just an X and Y chromosome, but in this case there is an extra X chromosome. Some males who have the syndrome never experience the symptoms, but for more extreme cases they can have problems like poor upper body strength, appear to be taller than most people and uncontrolled shaking.
Klinefelter’s syndrome was discovered in 1942 by a man named Harry Klinefelter. He had studied 9 men who had enlarged breast, little facial hair/ pubic hair, small testes and had a problem producing sperm. In the 1950’s researches discovered men with Klinefelter’s had an extra sex chromosome. The arrangement is XXY instead of XY like normal males. In the 1970’s researchers discovered the extra chromosome by screening a large number of newborns. More than 40,000 infants had the syndrome. It is one of the most common genetic abnormalities. Some are able to live their whole like without ever knowing they had Klinefelter’s.
Most with the syndrome seem to be normal at birth but as they progress into mid puberty, their testosterone level is lower then average. This causes them to have small testicles, an inability to make sperm and wider hips. Around 25%-95% of them have some sort of language disability such as trouble expressing feelings and thoughts, learning to talk late, trouble processing what they hear and trouble reading. Socially most of the males tend to be quieter, less self confident, less active and more obedient then other boys. As teens they have trouble “fitting in” in school with sports and the other kids.
The condition itself can not be inherited. It randomly occurs during the formation of reproducing cells. There is an error in cell division that is called “non disjunction”, which means a reproductive cells that has an abnormal amount of chromosomes. If there is an “atypical” reproductive cell that helps the child, the child will have one or more X in each body cell.
Doctors diagnose it with blood test or parental testing. The blood testing is called a “karyotype”. The test looks at the persons chromosomes to determine whether they have Klinefelter’s or not. Recently kids who have the syndrome have been diagnosed before they were born. They test it with a CUS. (chorionic villis sampling) A fluid sample is placed around the fetus to examine the chromosome number. The procedure needs to be done in the 1st trimester of the pregnancy. Neither procedure is used commonly, it is only used when there is history with the genetic defects.
Most males have 46 XY chromosomes, but in this case the chromosomes are arranged like 47XXY as an extra copy of the gene. The individuals that have an extra X chromosome are described as have mosaic Klinefelter’s syndrome. Those who have the mosaic Klinefelter’s, have more mild signs and symptoms depending on the X chromosome. The variants of Klinefelters are caused by several extra copies of the X chromosome in the body. As the number of sex chromosomes increases so does the risk of birth defects, learning abilities and other health issues. The genetic cause of Klinefelter’s is one or more copies of an X chromosome.
In genetic diseases there are 3 different levels of disorders. Level 1 is a single gene disorder. Level 2 is chromosomal abnormalities. Level 3 is multifactorial disorders. Klinefelter’s is a level 2 because it has a extra chromosome which would make it a chromosomal abnormality. The syndrome affects every 1 in 500-100 males. The variants of it are rarer, it occurs in every 1 in 50,000 or fewer male births.
Many who have Klinefelter’s may never get any symptoms and be able to live their life normally, but those who have more severe cases will get the symptoms. The symptoms include poor upper body strength and being clumsy. ⅓ of the males with Klinefelters end up having enlarged breast. Most are taller than average and have longer limbs. Also includes uncontrolled shaking. 50% of the men have dyslexia. The more X chromosomes there are, the greater the disability is.
There is no cure for klinefelter’s syndrome. The prognosis has a better chance though, if you want to seek help you have to be in monetary health and get the treatment as early as possible. If men do get the treatment, they will be able to have a full active life and live to the expected life span. Men with the syndrome are at risk for breast cancer, obesity, osteoporosis, non-Hodgkin's lymphomas and auto immune diseases. The treatment men can get is educational treatment, therapeutic treatment and medic treatment.
The syndrome can affect different stages of physical, language and social development. It’s important to seek treatment as early as possible, this way those with Klinefelter’s can have successful careers and normal social relationships. The risk of having a child born with Klinfelter’s is not about anything the parents do or do not do. Although women over 35 have a slightly higher risk factor for having a child born with the syndrome. Other options to help men with Klinfelter’s are thing like testosterone replacement therapy, breast tissue removal, speech and physical therapy, educational counseling, fertility treatment and psychological counseling.
Bibliography
worldhealthtalk.net/genetic-disorders/ Anonymous, May 6, 2010
May 3, 2011 inernet
The Gale Encycolpedia of Genetic Disorders Blachford, L. Stacey, New york 2001,
May 3, 2011 book
ghr.nlm.nih.gov/condition/klinefelters-syndrome U.S National Library of Medicine, 2010
May 3, 2011 internet
genetics.emedtv.com/klinefelter-syndrome/klinefelter-syndrome-and-infertility.html
Clinareo, Inc. 2006 May 3, 2011 internet