2011 Jun. Testosterone is the hormone that directs male sexual development before birth and during puberty. Close S, Fennoy I, Smaldone A, Reame N. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. [Medline]. 1988 Jun. 7:113-26. [Full Text]. 2018 Feb 6. The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. 97(16):1204-10. Users with questions about a personal health condition should consult with a qualified healthcare professional. The clinical phenotype of KS was first described in males with tall stature, small testes, gynecomastia, and azoospermia with the genetic etiology of supernumerary X chromosomes identified in 1959. … Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Pediatr Endocrinol Rev. 3 EPIDEMIOLOGY 7 4 CAUSES OF KLINEFELTER SYNDROME 8 5 PATHOPHYSIOLOGY 10 6 SYMPTOMS OF KLINEFELTER SYNDROME 11 7 DIAGNOSIS 13 8 TREATEMENT 15 9 CONDITIONS THAT CAN BE ASSOCIATED WITH KLINEFELTER SYNDROME 17 10 KLINEFELTERS SYNDROME VARIATIONS (48, XXYY; 48, XXXY; and 49, XXXXY) 18 11 CONCLUSION 26 12 BIBLIOGRAPHY 28 INTRODUCTION Klinefelter syndrome … J Natl Cancer Inst. J Am Heart Assoc. [Medline]. Hum Reprod Update. Prenat Diagn. Moreover, mental capacity diminishes with additional X chromosomes. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. 2:164-67. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. 2004 Feb. 216. (XXY) 19. Allyse M, Minear MA, Berson E, et al. Epub 2013 May 17. Review. Hum Reprod. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. 1959 Jan 31. 2006 Mar 1. 10.1016/j.fertnstert.2012.05.026. 1997 Apr. Frühmesser A, Kotzot D. Chromosomal variants in klinefelter syndrome. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome. 2004 Dec. 89(12):6208-17. Epub 2012 Nov 1. Review. [Medline]. Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and GenomicsDisclosure: Nothing to disclose. 2007 Jan. 99(1):141-6. 1997 Oct. 68(4):718-20. [Medline]. 2006 Jul. A case of Klinefelter's syndrome is described. Deebel NA, Galdon G, Zarandi NP, et al. Birth Defects Orig Artic Ser. Fertil Steril. van Rijn S, Swaab H. Vulnerability for psychopathology in Klinefelter syndrome: age-specific and cognitive-specific risk profiles. Hum Reprod Update. Yencilek F, Baykal C. 46 XX male syndrome: a case report. Autoimmun Rev. Screening for cancer (especially of the breast), deep vein thrombosis, and glucose intolerance is indicated + + Most cases of KS occur through sporadic chromosomal nondisjunction during parental gametogenesis in either the sperm or the egg. The extra X chromosomes are maternally derived in 60% of cases. Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype. Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN. Review. Dev Disabil Res Rev. It is thought that less than 10 percent of individuals with Klinefelter syndrome have the mosaic form. The syndrome was first identified with a specific chromosomal abnormality in 1959 by British researcher Patricia A. Jacobs and her colleagues. [Medline]. 75 (6):1102-5. 2012 Aug. 98(2):261-5. Eur J Hum Genet. All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. Acta Paediatr. [Medline]. Horowitz M, Wishart JM, O'Loughlin PD, Morris HA, Need AG, Nordin BE. Reubinoff BE, Abeliovich D, Werner M, Schenker JG, Safran A, Lewin A. 4(4):192-204. [Medline]. A form of primary testicular failure occurs in males with Klinefelter Syndrome, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. In these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). [Full Text]. The spectrum of the Aberrant recombination and the origin of Klinefelter syndrome. Other than a thin build and disproportionately long arms and legs, the phenotype is normal. Men with Klinefelter syndrome present with sequels of hormonal and spermatogenic testicular failure like infertility, low testosterone, erectile dysfunction, and low bone mineral density. Dev Disabil Res Rev. Am J Med Genet C Semin Med Genet. It was diagnosed in a patient who visited his doctor due to chronic testicular pain. [Medline]. Mantovani V, Dondi E, Larizza D, et al. 2009 Mar. (1942), the syndrome was later identified as the most common chromosome disorder, presenting a supernumerary X chromosome (Jacobs and Strong, 1959) with … Chang S, Christiansen CF, Bojesen A, Juul S, Munster AB, Gravholt CH. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Klinefelter Syndrome is seen in males with an extra X chromosomes. To use the sharing features on this page, please enable JavaScript. An extra X chromosome in some of the cel… Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter syndrome and 47, XXY. A study by van Rijn et al indicated that information processing becomes more difficult in individuals with a 47,XXY karyotype as the social load related to the task increases. The population frequency is 1: 1000 males. [Medline]. [Medline]. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. Epub 2011 Apr 8. Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. Fertil Steril. [Medline]. 2001 Nov. 76(5):1054-6. Karyotype is typically 47, XXY but other sex chromosome anomalies cause variations of Klinefelter syndrome. [Medline]. Clin Genet. 1981 Apr. [Medline]. The primary features are infertility and small poorly functioning testicles. [Medline]. 69(6):317-26. often overlooked or untreated. Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Dtsch Arztebl Int. Epub 2012 Jun 15. Review. 2011 Jun. 2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. Epub 2011 Mar 31. Bojesen A, Gravholt CH. [Full Text]. 5 (5):[Medline]. Klinefelter Syndrome is a topic covered in the 5-Minute Clinical Consult.. To view the entire topic, please sign in or purchase a subscription.. 5-Minute Clinical Consult (5MCC) app and website powered by Unbound Medicine helps you diagnose and manage 900+ medical conditions. What is the prognosis of a genetic condition? In any event, if patients with Klinefelter syndrome wish to have children the initial step is to interrupt testosterone substitution, as testosterone suppresses residual spermatogenesis. N Engl J Med. How are genetic conditions treated or managed? Expert Rev Mol Diagn. Sokol RZ. Klinefelter syndrome is not inherited; the addition of an extra X chromosome occurs during the formation of reproductive cells (eggs or sperm) in one of an affected person's parents. J Assist Reprod Genet. Jan;98(1):20-30. doi: 10.1210/jc.2012-2382. 1959. Fertility: assessment and treatment for people with fertility problems. 1990. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical Osteoporosis and Klinefelter's syndrome. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Westlander G, Ekerhovd E, Granberg S, Hanson L, Hanson C, Bergh C. Testicular ultrasonography and extended chromosome analysis in men with nonmosaic Klinefelter syndrome: a prospective study of possible predictive factors for successful sperm recovery. 2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. [Full Text]. 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. Adv Pediatr. Acta Paediatr. Apr;38(3):197-207. doi: 10.1097/DBP.0000000000000429. Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function. [Medline]. As a result, some of the body's cells have the usual one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY). These conditions include 48,XXXY syndrome, 48,XXYY syndrome, and 49,XXXXY syndrome. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Nieschlag E, Ferlin A, Gravholt CH, Gromoll J, Köhler B, Lejeune H, Rogol AD, Often, symptoms are subtle and subjects do not realize they are affected. [Medline]. Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. Acta Paediatr. Hum Pathol. Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: [Medline]. Genet Med. [Medline]. Giedd JN, Clasen LS, Wallace GL, et al. [Medline]. [Full Text]. Adolescent male with gynecomastia and Klinefelter syndrome. 4 (3):545-9. Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human GeneticsDisclosure: Nothing to disclose. Clin Pediatr (Phila). 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