J Clin Endocrinol Metab. 13:781-782. behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. [Full Text]. Sokol RZ. 7 (3):e00645. Extragonadal germ cell tumors are often associated with Klinefelter syndrome. Several conditions resulting from the presence of more than one extra sex chromosome in each cell are sometimes described as variants of Klinefelter syndrome. 169 (2):150-7. The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. Nieschlag E, Ferlin A, Gravholt CH, et al. J Pediatr. J Natl Cancer Inst. 26 (1):58-72. Background: Klinefelter syndrome (KS) is one of the major causes of nonobstructive azoospermia (NOA). Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. [Medline]. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. Review. Klinefelter syndrome occurs if boys are born with an extra X chromosome. 2008. Review. 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). Testicular sperm recovery in nine 47,XXY Klinefelter patients. The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. 4(4):192-204. The extra X chromosomes are maternally derived in 60% of cases. Eur J Endocrinol. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. BJU Int. [Medline]. Other than a thin build and disproportionately long arms and legs, the phenotype is normal. [Medline]. [Medline]. IN 1942 HARRY KLINEFELTER described a syndrome characterized by gynecomastia; small, firm testes with hyalinization of the seminiferous tubules; elevated gonadotropins; and azoospermia ().With an estimated mean prevalence of 152 per 100,000 males, Klinefelter syndrome (KS) is one of the most common sex chromosome anomalies ().It is also the among most frequent genetic causes of … Physiologically, males inherit one … J Clin Endocr Metabl. Similarly, if a sperm cell with both an X chromosome and a Y chromosome (XY) fertilizes an egg cell with a single X chromosome, the resulting child will have Klinefelter syndrome. 37 (5):497-501. 1996 Aug. 11(8):1650-3. [Medline]. Fertility: assessment and treatment for people with fertility problems. Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. 2000 Oct. 74(4):832-3. All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, et al. 2007 Apr. 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 Natl Cancer Inst. 2. 100(6):866-70. Often, symptoms are subtle and subjects do not realize they are affected. [Medline]. Rovenský J. Rheumatic diseases and Klinefelter's syndrome. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. 2005. Giltay JC, Maiburg MC. Nieschlag E, Ferlin A, Gravholt CH, Gromoll J, Köhler B, Lejeune H, Rogol AD, Adv Pediatr. 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. 2015 May 30. A case of human intersexuality having possible XXY sex-determining mechanism. 81 (6):795-806. Wikstrom AM, Painter JN, Raivio T, Aittomaki K, Dunkel L. Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome. 93(1-3):399-402. Boys and men with Klinefelter syndrome are still genetically male and often will not realize they have this extra X chromosome (47, XXY), but occasionally it can cause problems that may require treatment, problems such as a small penis, small testes and infertility. [Full Text]. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. Nieschlag E. Klinefelter syndrome: the commonest form of hypogonadism, but Damani MN, Mittal R, Oates RD. Please confirm that you would like to log out of Medscape. Hum Pathol. The activity of these extra genes may disrupt many aspects of development, including sexual development before birth and at puberty, and are responsible for the common signs and symptoms of Klinefelter syndrome. 2011 Jun. Acta Paediatr. Males have an X and a Y sex chromosome (XY).Klinefelter syndrome can be caused by: 1. 2018 Feb. 20 (2):214-22. U.S. Department of Health and Human Services. Klinefelter's syndrome pathophysiology. The X chromosome carries genes that have a role in many organ systems, playing a part, for example, in testes function, brain development, and growth. It isn't an inherited condition.Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. 10.3238/arztebl.2013.0347. 2016 May 20. 1992 Jan. 36 (1):113-8. These conditions include 48,XXXY syndrome, 48,XXYY syndrome, and 49,XXXXY syndrome. 2006 Mar 1. van Rijn S, de Sonneville L, Swaab H. The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). Birth Defects Orig Artic Ser. Salzano A, Arcopinto M, Marra AM, et al. 27(2):137-48. [Medline]. 68(3):150-5. During cell division, an error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form. 2007 Jul. (XXY) 19. [Guideline] Centre for Women's and Children's Health. 2011 Oct;34(5 Pt 2):e348-9. Mantovani V, Dondi E, Larizza D, et al. 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