Klinefelter syndrome
| Dem name after | Harry Klinefelter  |
|---|---|
| Time of discovery anaa invention | 1942 |
| Health specialty | medical genetics |
| Drug or therapy used for treatment | testosterone |
| WordLift URL | http://data.medicalrecords.com/medicalrecords/healthwise/male_with_klinefelter_syndrome |
| ICD-9-CM | 758.7 |
| NCI Thesaurus ID | C34752 |
Klinefelter syndrome (KS), dem sanso know as 47,XXY, be a chromosome anomaly wer a male get an extra X chromosome.[1] De complications commonly dey include infertility den small, poorly functioning testicles (if present). Dem often dey notice dese symptoms at puberty per, although dis be one of de most common chromosomal disorders. De birth prevalence of KS insyd de State of Victoria, Australia na dem estimate am to be 223 per 100,000 males.[2] Na dem name am after American endocrinologist Harry Klinefelter, wey identify de condition insyd de 1940s, along plus ein colleagues at Massachusetts General Hospital.[3][4][5][6]
De syndrome be defined by de presence of at least one extra X chromosome in addition to a Y chromosome, wey dey yield a total of 47 anaa more chromosomes rada dan de usual 46. Klinefelter syndrome dey occur randomly. De second X chromosome dey cam from de poppie den mommie nearly equally. An older mommie fi get a slightly increased risk of a kiddie plus KS. De syndrome be diagnosed by de genetic test dem know as karyotyping.[3][7][8][9]
References
[edit | edit source]- ↑ "Klinefelter syndrome". National Health Service. 20 February 2023. Archived from the original on 17 January 2024. Retrieved 29 January 2024.
- ↑ Herlihy, Amy S.; Halliday, Jane L.; Cock, Megan L.; McLachlan, Robert I. (2011). "The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison". Medical Journal of Australia. 194 (1): 24–28. doi:10.5694/j.1326-5377.2011.tb04141.x. PMID 21449864.
- 1 2 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.
- ↑ "How many people are affected by or at risk for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 17 March 2015. Retrieved 15 March 2015.
- ↑ Klinefelter, Harry Fitch Jr. (September 1986). "Klinefelter's syndrome: historical background and development". Southern Medical Journal. 79 (9): 1089–1093. doi:10.1097/00007611-198609000-00012. PMID 3529433.
- ↑ Visootsak, Jeannie; Graham, John M (2006-10-24). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1 (1): 42. doi:10.1186/1750-1172-1-42. ISSN 1750-1172. PMC 1634840. PMID 17062147.
- ↑ "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.
- ↑ "Klinefelter Syndrome". Mayo Clinic. Archived from the original on 8 September 2020. Retrieved 27 August 2020.
- ↑ Kanakis, George A.; Nieschlag, Eberhard (September 2018). "Klinefelter syndrome: more than hypogonadism". Metabolism. 86: 135–144. doi:10.1016/j.metabol.2017.09.017. PMID 29382506. S2CID 3702209.
Read further
[edit | edit source]- Cover VI (2012). Living with Klinefelter Syndrome, Trisomy X and 47,XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosomes (PDF). Virginia Isaacs Cover. ISBN 978-0-615-57400-4.
External links
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