Klinefelter's Syndrome
Klinefelter's syndrome is a chromosomal condition that affects only males. It is the result of an extra X chromosome. Klinefelter's syndrome is also known as the 47 syndrome or the XXY syndrome.
History
Klinefelter's syndrome was named after Harry Klinefelter, who in 1942, worked with a man by the name of Fuller Albright in Boston, Massachusetts at Massachusetts General Hospital. Klinefelter and some of his staff published an article stating that just about nine men were showing signs of small testes, larger breasts size (gynecomastia), thin face and body hair, and the inability to make sperm. They were then classified as Klinefelter's patients.
Later on in the 1950's, it was then discovered that the cause of Klinefelter's syndrome was actually an extra X chromosome. The extra X chromosome is also the cause of the increase of physical feminism in these, and many other patients.
Later on in the 1950's, it was then discovered that the cause of Klinefelter's syndrome was actually an extra X chromosome. The extra X chromosome is also the cause of the increase of physical feminism in these, and many other patients.
Diagnosing
In order to identify if a patient has Klinefelter's syndrome or not, a chromosomal analysis (karyotyping) takes place.
The procedure is as followed:
1.Blood is drawn
2.White blood cells are separated
3.White blood is mixed with tissue culture medium
4.Incubated
Checked for abnormal chromosomes, like an extra X chromosome
When the analysis takes place, the doctor looks at a specific number of cells in order for a diagnosis of genetic conditions in the full and mosaic states to happen.
The procedure is as followed:
1.Blood is drawn
2.White blood cells are separated
3.White blood is mixed with tissue culture medium
4.Incubated
Checked for abnormal chromosomes, like an extra X chromosome
When the analysis takes place, the doctor looks at a specific number of cells in order for a diagnosis of genetic conditions in the full and mosaic states to happen.
Symptoms
Symptoms of Klinefelter's syndrome include:
- Small testes.
- Decreased facial hair compared to a usual male.
- Gynecomastia (some breast tissue development).
- Decreased pubic hair compared to a usual male.
- A tall, thin body with disproportionately long arms and legs.
- Obesity - this may cause a thicker waistline but it is often partially disguised by wider than normal hips.
- A delay in the age of first walking.
- Dyspraxia (which causes co-ordination problems).
- Speech and language delay or difficulties.
- Attention problems.
- Mild learning disabilities.
- Dyslexia or reading problems.
In addition:
- May also have problems getting an erection and have a low libido (sex drive).
- Anxiety and depression may be a problem.
- 'Thin bones' (osteoporosis) may develop in young or middle age rather than the usual older age for this condition.
- May also be less muscular than other men.
- Almost all men who are 47, XXY will be infertile.
Prognosis
The main form of treatment for a patient with Klinefelter's syndrome is testosterone therapy. Testosterone therapy:
- Increases strength and builds a more muscular body type.
- Increases facial and pubic hair growth.
- Increases libido (sex drive).
- Enlarges the testes.
- Improves mood and self-esteem.
- Protect against 'thin bones' (osteoporosis).
Pedigree and Inheritance
Since Klinefelter's can not be passed on because patients can not reproduce, there is no way to track Klinefelter's syndrome through a family's genetic history.
Also, as stated before, Klinefelter's syndrome can not be inherited. It is actually a mutation caused by chromosomal nondisjunction that results from a failure to correctly distribute the correct number of chromosomes to each daughter cell during meiosis. Some can refer to XXY syndrome as a chromosomal disorder.
Also, as stated before, Klinefelter's syndrome can not be inherited. It is actually a mutation caused by chromosomal nondisjunction that results from a failure to correctly distribute the correct number of chromosomes to each daughter cell during meiosis. Some can refer to XXY syndrome as a chromosomal disorder.
Prevelance
http://i45.tinypic.com/14vik3k.gif
The link above will connect you to a dot map that represents individual countries and their estimated population with Klinefelter's syndrome.
USA: 1 out of 500 or 0.20% men have Klinefelter's
But on the other hand, in European countries it is almost very rare for a man to have Klinefelter's.
1 out of 2,000 men have Klinefelter's
The link above will connect you to a dot map that represents individual countries and their estimated population with Klinefelter's syndrome.
USA: 1 out of 500 or 0.20% men have Klinefelter's
But on the other hand, in European countries it is almost very rare for a man to have Klinefelter's.
1 out of 2,000 men have Klinefelter's
To your left you can see a graph. This graph represents the estimated population with Klinefelter's syndrome. Theoretically speaking, the reason that the Asian continent has a higher bar is because of the mere fact that this continent has the highest population counts in many of the individual countries within the continents borders. For example, both China and India make up the two highest likely rates for Klinefelter's syndrome.