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Xu, C. Klinefelter Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4396 (accessed on 25 September 2026).
Xu C. Klinefelter Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4396. Accessed September 25, 2026.
Xu, Camila. "Klinefelter Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4396 (accessed September 25, 2026).
Xu, C. (2020, December 23). Klinefelter Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4396
Xu, Camila. "Klinefelter Syndrome." Encyclopedia. Web. 23 December, 2020.
Klinefelter Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/klinefelter-syndrome

Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development.

genetic conditions

References

  1. Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype inKlinefelter syndrome: a review of the literature including genetic and hormonalfactors. Dev Disabil Res Rev. 2009;15(4):284-94. doi: 10.1002/ddrr.83. Review.
  2. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advancesin the Interdisciplinary Care of Children with Klinefelter Syndrome. Adv Pediatr.2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. Review.
  3. Frühmesser A, Kotzot D. Chromosomal variants in klinefelter syndrome. Sex Dev.2011;5(3):109-23. doi: 10.1159/000327324.
  4. Giltay JC, Maiburg MC. Klinefelter syndrome: clinical and molecular aspects.Expert Rev Mol Diagn. 2010 Sep;10(6):765-76. doi: 10.1586/erm.10.63. Review.
  5. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review:Klinefelter syndrome--a clinical update. J Clin Endocrinol Metab. 2013Jan;98(1):20-30. doi: 10.1210/jc.2012-2382.
  6. Herlihy AS, Gillam L. Thinking outside the square: considering gender inKlinefelter syndrome and 47, XXY. Int J Androl. 2011 Oct;34(5 Pt 2):e348-9. doi: 10.1111/j.1365-2605.2010.01132.x.
  7. Nieschlag E, Ferlin A, Gravholt CH, Gromoll J, Köhler B, Lejeune H, Rogol AD, Wistuba J. The Klinefelter syndrome: current management and research challenges. Andrology. 2016 May;4(3):545-9. doi: 10.1111/andr.12208.
  8. Nieschlag E. Klinefelter syndrome: the commonest form of hypogonadism, butoften overlooked or untreated. Dtsch Arztebl Int. 2013 May;110(20):347-53. doi:10.3238/arztebl.2013.0347.
  9. Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, ForestaC, Lenzi A. Consensus statement on diagnosis and clinical management ofKlinefelter syndrome. J Endocrinol Invest. 2010 Dec;33(11):839-50. Review.
  10. Sokol RZ. It's not all about the testes: medical issues in Klinefelterpatients. Fertil Steril. 2012 Aug;98(2):261-5. doi:10.1016/j.fertnstert.2012.05.026.
  11. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK ClinicalCytogenetics Group. Cancer incidence and mortality in men with Klinefeltersyndrome: a cohort study. J Natl Cancer Inst. 2005 Aug 17;97(16):1204-10.
  12. Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr.2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x.Review.
  13. Tartaglia N, Cordeiro L, Howell S, Wilson R, Janusz J. The spectrum of thebehavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome).Pediatr Endocrinol Rev. 2010 Dec;8 Suppl 1:151-9. Review.
  14. Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D,Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy:XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017Apr;38(3):197-207. doi: 10.1097/DBP.0000000000000429.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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