User:Mr. Ibrahem/Klinefelter syndrome
| Mr. Ibrahem/Klinefelter syndrome | |
|---|---|
| Other names | XXY syndrome, Klinefelter's syndrome, Klinefelter-Reifenstein-Albright syndrome |
 | |
| 47,XXY karyotype | |
| Pronunciation | |
| Specialty | Medical genetics |
| Symptoms | Often few[1] |
| Usual onset | At fertilisation[2] |
| Duration | Long term |
| Causes | Two or more X chromosomes in males[3] |
| Risk factors | Older mother[4] |
| Diagnostic method | Genetic testing (karyotype)[5] |
| Treatment | Physical therapy, speech and language therapy, counseling[6] |
| Prognosis | Nearly normal life expectancy[7] |
| Frequency | 1:500 to 1:1,000 males[4][8] |
Klinefelter syndrome (KS), also known as 47, XXY is the set of symptoms that result from two or more X chromosomes in males.[3] The primary features are infertility and small poorly functioning testicles.[3][9] Often, symptoms may be subtle and many people do not realize they are affected.[1] Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex.[1] Often it is only at puberty that these symptoms are noticed.[5] Intelligence is usually normal; however, reading difficulties and problems with speech are more common.[1] Symptoms are typically more severe if three or more X chromosomes are present (48,XXXY syndrome or 49,XXXXY syndrome).[1]
Klinefelter syndrome occurs randomly.[4] The extra X chromosome comes from the father and mother nearly equally.[10] An older mother may have a slightly increased risk of a child with KS.[4] The condition is not typically inherited from one's parents.[4] The underlying mechanisms involves at least one extra X chromosome in addition to a Y chromosome such that the total chromosome number is 47 or more rather than the usual 46.[9] KS is diagnosed by the genetic test known as a karyotype.[5]
While no cure is known, a number of treatments may help.[7] Physical therapy, speech and language therapy, counselling, and adjustments of teaching methods may be useful.[6] Testosterone replacement may be used in those who have significantly lower levels.[6] Enlarged breasts may be removed by surgery.[6] About half of affected males have a chance of fathering children with the help of assisted reproductive technology, but this is expensive and not risk free.[6] XXY males appear to have a higher risk of breast cancer than typical, but still lower than that of females.[11] People with the condition have a nearly normal life expectancy.[7]
Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births.[4][8] It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s.[12] In 1956, identification of the extra X chromosome was first noticed.[13] Mice can also have the XXY syndrome, making them a useful research model.[14]
References[edit]
- ^ a b c d e "What are common symptoms of Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-10-25. Archived from the original on 2 April 2015. Retrieved 15 March 2015.
- ^ "Klinefelter syndrome". rarediseases.info.nih.gov. Archived from the original on 15 April 2019. Retrieved 15 April 2019.
- ^ a b c "Klinefelter Syndrome (KS): Overview". nichd.nih.gov. Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-11-15. Archived from the original on 18 March 2015. Retrieved 15 March 2015.
- ^ a b c d e f "How many people are affected by or at risk for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2012-11-30. Archived from the original on 17 March 2015. Retrieved 15 March 2015.
- ^ a b c "How do health care providers diagnose Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2012-11-30. Archived from the original on 17 March 2015. Retrieved 15 March 2015.
- ^ a b c d e "What are the treatments for symptoms in Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-10-25. Archived from the original on 15 March 2015. Retrieved 15 March 2015.
- ^ a b c "Is there a cure for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2012-11-30. Archived from the original on 17 March 2015. Retrieved 16 March 2015.
- ^ a b "Klinefelter syndrome". Genetics Home Reference. National Library of Medicine. 2012-10-30. Archived from the original on 2012-11-15. Retrieved 2012-11-02.
- ^ a b Visootsak J, Graham JM (October 2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Kanakis GA, Nieschlag E (September 2018). "Klinefelter syndrome: more than hypogonadism". Metabolism. 86: 135–144. doi:10.1016/j.metabol.2017.09.017. PMID 29382506.
- ^ Brinton LA (June 2011). "Breast cancer risk among patients with Klinefelter syndrome". Acta Paediatrica. 100 (6): 814–8. doi:10.1111/j.1651-2227.2010.02131.x. PMC 4024394. PMID 21241366.
- ^ "Klinefelter Syndrome (KS): Condition Information". nichd.nih.gov. 2013-11-15. Archived from the original on 18 March 2015. Retrieved 15 March 2015.
- ^ Odom, Samuel L. (2009). Handbook of developmental disabilities (Pbk. ed.). New York: Guilford. p. 113. ISBN 9781606232484. Archived from the original on 2017-09-10. Retrieved 2020-08-05.
- ^ Conn, P. Michael (2013). Animal models for the study of human disease (First ed.). San Diego: Elsevier Science & Technology Books. p. 780. ISBN 9780124159129. Archived from the original on 2017-09-10. Retrieved 2020-08-05.