Klinefelter+Syndrome

**Klinefelter Syndrome, or 47, XXY Syndrome**

\ˈklīn-ˌfel-tər- ˈsin-ˌdrōm also -drəm\ (Not to be confused with XYY syndrome) 

 **Introduction**

Klinefelter Syndrome is the most common sex chromosomal syndrome and approximately 1 in 500–1000 males. Over 3000 affected males are born yearly in the US (Chen, 2006). People typically have either two X chromosomes, XX female, or one X and one Y, XY male. The term “Klinefelter Syndrome” describes a group of disorders characterized by the addition of at least one extra X chromosome to a 46, XY male karyotype. It usually presents itself as a 47, XXY karyotype, but other forms include 48, XXXY, 48, XXYY, 49, XXXXY, and mosaicism for 47, XXY (Robinson, Bender, Linden 2001).


 * Characteristics of Klinefelter Syndrome include (Chen 2006):**

Microorchidism, or under-developed testes Gynecomastia, or female-type development of breast tissue Risk of developing breast cancer: at least twenty times higher than normal Long arms and legs Large hands and feet Short trunk Less than normal facial, body, and pubic hair Pubic hair is distributed in same manner as women Infertility Erectile Dysfunction Wider hips Shoulders equal length with hips Decreased libido High pitched voice Taurodonism, or enlarged molars Slightly increased risk of autoimmune disorder a. Systemic Lupus Erythematosis b. Thyroid Disease c. Rheumatoid Arthritis d. Sjogren Syndrome e. Diabetes Mellitus Mild developmental, learning, and behavioral difficulties a. Delayed speech and language acquisition b. Academic and reading difficulties c. Attention deficit disorder d. Poor self-esteem e. Insecurity f. Shyness g. Poor judgment h. Inappropriate assertive activity i. Decreased ability to deal with stress j. Fatigue k. Weakness Central Nervous System a. Normal intelligence in most cases b. Subnormal intelligence or mental retardation associated with a higher number of X chromosomes c. Diminished short term memory d. Prone to epilepsy and essential tremor e. Psychiatric disorders involving anxiety, depression, neurosis, and psychosis: more common than general population


 * Diagnosis**

Diagnosis can happen in a prenatal check-up or as an adult. Most of the time men go through their lives not knowing they have Klinefelter Syndrome until they notice fertility issues and go in for a fertility and chromosome check-up (Lewis 2007). This condition is not hereditary. It usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body's cells ( @http://ghr.nlm.nih.gov/condition/klinefelter-syndrome, 2011). Testing for Klinefelter includes karyotyping, semen count, and blood tests.


 * Treatment**

Treatment for males diagnosed with Klinefelter Syndrome includes getting testosterone injections, cosmetic surgery for men with enlarged breast, physical and therapeutic therapy, and some men with medical assistance from an infertility specialist or endocrinologist. The testosterone treatment will help:

a. Corrects hormone imbalance b. Improves self-image c. Positive effect on mood and behavior d. Increase in masculinity e. Increase in strength f. Increases libido g. Increase in facial and pubic hair h. Diminish fatigue and irritability

The best time to have testosterone injection is between the ages of 10-12 so that the young boy can have a somewhat normal puberty (Chen 2006).




 * Misconceptions**

Klinefelter Syndrome can also be seen as Klinefelter’s Syndrome. This is incorrect because Dr. Harry Klinefelter was only one of the doctors who discovered it, he did not have the syndrome, or own the medical rights to it. Out of respect for his report they did name it after him.

Just because a man is diagnosed with Klinefelter Syndrome does not mean he can function in society. There has been no correlation between Klinefelter and homosexuality.


 * See Also**

Popular actor Ryan Reynolds in 2008 starred in the film Chaos Theory about a man who pre-planned ever facet of his life until any possible thing that could go wrong in his life did go wrong. In order to prove to his wife that he was not the father of another woman’s child he went to his doctor and found out he couldn’t have fathered the other woman’s child because he had Klinefelter Syndrome. He lost it when he realized that meant he was also not the father of his daughter. From that point on he does anything and everything that he never would have done before. In the end he decides to stay with his wife and raise the girl as his own ( @http://www.imdb.com/title/tt0460745/.

B. Cassidy, S, & E. Allanson, J. (2001). Management of genetic syndromes. New York, NY: Wiley-Liss.
 * Works Cited**

Chen, H. (2006). Atlas of genetic diagnosis and counseling. Humana Pr Inc.

Http://healthinformation.centracare.com/library/healthguide/en us/images/media/medical/hw/h9991414_001.jpg

Klinefelter syndrome - Genetics Home Reference. (2011, April 7). Genetics Home Reference - Your guide to understanding genetic conditions. Retrieved April 11, 2011, from @http://ghr.nlm.nih.gov/condition/klinefelter-syndrome

Lewis, R. (2007). Human genetics. New York, NY: McGraw-Hill Higher Education.

Public Medical Health. "Klinefelter syndrome - PubMed Health." National Center for Biotechnology Information. N.p., n.d. Web. 11 Apr. 2011. < @http://www.ncbi.nlm.nih.gov/pubm