Human chromosomal condition
Medical condition
Klinefelter syndrome Other names XXY syndrome, Klinefelter's syndrome, Klinefelter-Reifenstein-Albright syndrome 47,XXY karyotype Pronunciation Specialty Medical genetics Symptoms Varied; include above average height , weaker muscles , poor coordination , less body hair , breast growth , small testicle size , less interest in sex , infertility [ 1] Complications Infertility , intellectual disability ,[ 2] autoimmune disorders , breast cancer , venous thromboembolic disease , osteoporosis Usual onset At fertilisation [ 3] Duration Lifelong Causes Nondisjunction during gametogenesis or in a zygote [ 4] Risk factors Older age of mother [ 5] Diagnostic method Genetic testing (karyotype )[ 6] Prevention None Treatment Physical therapy , speech and language therapy , Testosterone Supplementation, counseling [ 7] Prognosis Nearly normal life expectancy [ 8] Frequency 1 in 500–1000[ 5] [ 9] Named after Harry Klinefelter
Klinefelter syndrome (KS ), also known as 47,XXY , is a chromosome anomaly where a male has an extra X chromosome .[ 10] These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders , occurring in one to two per 1,000 live births. It is named after American endocrinologist Harry Klinefelter , who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital .[ 4] [ 5] [ 11] [ 12]
The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome , yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally. An older mother may have a slightly increased risk of a child with KS. The syndrome is diagnosed by the genetic test known as karyotyping .[ 4] [ 6] [ 13] [ 14]
^ "What are common symptoms of Klinefelter syndrome (KS)?" . Eunice Kennedy Shriver National Institute of Child Health and Human Development . 25 October 2013. Archived from the original on 2 April 2015. Retrieved 15 March 2015 .
^ Simonetti L, Ferreira LG, Vidi AC, de Souza JS, Kunii IS, Melaragno MI, et al. (2021). "Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern" . Frontiers in Genetics . 12 : 724625. doi :10.3389/fgene.2021.724625 . PMC 8488338 . PMID 34616429 .
^ "Klinefelter syndrome" . rarediseases.info.nih.gov . Archived from the original on 15 April 2019. Retrieved 15 April 2019 .
^ a b c 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 .
^ a b c "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 .
^ a b "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 .
^ "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 .
^ "Is there a cure 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 16 March 2015 .
^ "Klinefelter syndrome" . Genetics Home Reference . National Library of Medicine . 30 October 2012. Archived from the original on 15 November 2012. Retrieved 2 November 2012 .
^ "Klinefelter syndrome" . National Health Service . 20 February 2023. Archived from the original on 17 January 2024. Retrieved 29 January 2024 .
^ Cite error: The named reference smedj1986
was invoked but never defined (see the help page ).
^ 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 .
^ "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 .