Orphanet J Rare Dis. [Medline]. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. [Full Text]. Testosterone is the hormone that directs male sexual development before birth and during puberty. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug ReferenceDisclosure: Nothing to disclose. Hum Reprod. 2007 Jul. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility. [Medline]. Brain Behav. Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. 2020 Jan 1. [Medline]. 1996 Aug. 11(8):1644-9. Pediatrics. Beberapa tanda dan gejala paling khas dari sindrom Klinefelter adalah ukuran testis yang kecil dan tidak turun ke kantung zakar, serta payudara yang membesar (gynecomastia).Kondisi ini disebabkan karena produksi hormon testosteron (hormon seks pria) yang berkurang.. Tanpa pengobatan yang tepat, kekurangan … 100(6):908-16. 2015 May 30. (1942), the syndrome was later identified as the most common chromosome disorder, presenting a supernumerary X chromosome (Jacobs and Strong, 1959) with … 26(4):59-115. 37 (5):497-501. 2001 Jun. Eur J Endocrinol. Adolescent male with gynecomastia and Klinefelter syndrome. [Medline]. [Medline]. Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. 2005. Close S, Fennoy I, Smaldone A, Reame N. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. Staessen C, Coonen E, Van Assche E, et al. Dev Disabil Res Rev. [Medline]. 140(5):471-81. 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. Klinefelter's syndrome was a casual finding, as chronic testicular pain is not described as a clinical symptom of this disease. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly93d3cubWVkc2NhcGUuY29tL2Fuc3dlcnMvOTQ1NjQ5LTExNDkxNi93aGF0LWlzLXRoZS1wYXRob3BoeXNpb2xvZ3ktb2Yta2xpbmVmZWx0ZXItc3luZHJvbWU=. factors. 2:615-24. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Sex Dev. 2007 Apr. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA,. 75 (6):1102-5. Incidence of chromosomal aberrations in childrenborn after assisted reproduction through intracytoplasmic sperm injection. 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. 2011;5(3):109-23. doi: 10.1159/000327324. The syndrome was first identified with a specific chromosomal abnormality in 1959 by British researcher Patricia A. Jacobs and her colleagues. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 65(1):92-7. 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. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. The recurrence risk is not increased above that of the general population. Nature. Klinefelter syndrome in clinical practice. 2011 Jun. [Medline]. 2001 Nov. 69(5):1046-54. Other than a thin build and disproportionately long arms and legs, the phenotype is normal. All material on this website is protected by copyright, Copyright © 1994-2020 by WebMD LLC. Clin Endocrinol (Oxf). Bojesen A, Gravholt CH. [Full Text]. Genital anomalies in Klinefelter's syndrome. 2014 Mar. Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. It was clinically described for the first time by Kleinfelter in 1942. 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. 1997 Oct. 68(4):718-20. Epub 2013 May 17. Review. Hong DS, Reiss AL. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. J Dev Behav Pediatr. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. 10.1111/j.1365-2605.2010.01132.x. 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. All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. 2009 Mar. The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. Children with Klinefelter syndrome may have low muscle tone (hypotonia) and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking. Other physical changes associated with Klinefelter syndrome are usually subtle. 2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. J Pediatr. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. [Full Text]. Physiologically, males inherit one … 13:781-782. Dtsch Arztebl Int. Consensus statement on diagnosis and clinical management of [Medline]. The spectrum of the Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Klinefelter syndrome is quite common, affec… 1998. 2007 Oct. 13 (10):745-50. Adv Pediatr. Mol Hum Reprod. Acta Paediatr. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). 2018 Feb. 20 (2):214-22. N Engl J Med. Last Updated on Fri, 18 Sep 2020 | Testosterone Levels. 2011 Jun. Klinefelter's syndrome is reviewed by comparing it with this clinical case. 2004 Dec. 89(12):6208-17. [10]. Horm Res. It isn't an inherited condition.Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. Epub 2011 Apr 8. How can gene mutations affect health and development? Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center This review is aimed to provide the practicing urologist with an important source of clinically relevant information about Klinefelter syndrome. 2016 Jul. [Medline]. Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in 2001 Sep. 16(9):1909-11. van Rijn S, de Sonneville L, Swaab H. The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). 2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. 26 (1):58-72. 2005 Aug 17. [Medline]. Acta Paediatr. 2006 Apr. Klinefelter Syndrome Instructional Tutorial Video: https://youtu.be/XzDxbVyvaM4 CanadaQBank.com BJU Int. 1998 Jan. 13(1):124-7. Ron-El R, Raziel A, Strassburger D, Schachter M, Bern O, Friedler S. Birth of healthy male twins after intracytoplasmic sperm injection of frozen-thawed testicular spermatozoa from a patient with nonmosaic Klinefelter syndrome. Sokol RZ. 10.3238/arztebl.2013.0347. [Medline]. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical 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. [Medline]. Hormone testing. 183(4657):302-3. J Clin Endocr Metabl. Semin Reprod Med. [Medline]. Pathophysiology 2) Karyotyping – The set of chromosomes in a person with Klinefelter syndrome (Doctor Tipser) The extra chromosome is retained because of a nondisjunction event during paternal or maternal meiosis I (gametogenesis). Non-invasive prenatal testing: a review of international implementation and challenges. 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. Diagnosing Klinefelter SyndromeThe greatest chances to make Klinefelter’sdiagnosing are in following times of life: Before or shortly after birth Early childhood Adolescence Adulthood.For males in which Klinefelter syndrome is suspected, aspecial blood test is recommended to confirm theKlinefelter syndrome diagnosis. Andrology. Nearly half of all men with Klinefelter syndrome develop metabolic syndrome, which is a group of conditions that include type 2 diabetes, high blood pressure (hypertension), increased belly fat, high levels of fats (lipids) such as cholesterol and triglycerides in the blood. The extra X chromosomes are maternally derived in 60% of cases. Fertil Steril. Moreover, mental capacity diminishes with additional X chromosomes. Van Opstal D, Los FJ, Ramlakhan S, et al. Ross JL, Kushner H, Kowal K, et al. 7:113-26. Screening for cancer (especially of the breast), deep vein thrombosis, and glucose intolerance is indicated + + Estop AM, Munne S, Cieply KM, Vandermark KK, Lamb AN, Fisch H. Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis. Zöller B, Ji J, Sundquist J, Sundquist K. High Risk of Venous Thromboembolism in Klinefelter Syndrome. 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. Vorona E, Zitzmann M, Gromoll J, Schuring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. Schizophr Res. Birth Defects Orig Artic Ser. 2011 Jun. Often, symptoms are subtle and subjects do not realize they are affected. [Medline]. Genetics Home Reference has merged with MedlinePlus. Palermo GD, Schlegel PN, Sills ES, et al. Venous thromboembolic disease in Klinefelter's syndrome. Luis O Rohena, MD, MS, FAAP, FACMG Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.). 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. Klinefelter syndrome--a clinical update. 1992 Jan. 36 (1):113-8. [Medline]. Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. [Full Text]. [Medline]. 5 (5):[Medline]. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. In these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). 2010 Sep;10(6):765-76. doi: 10.1586/erm.10.63. Klinefelter's syndrome pathophysiology. Klinefelter syndrome and 47, XXY. An extra X chromosome in some of the cel… 93(1-3):399-402. J Clin Endocrinol Metab. Acta Paediatr. 49,XXXXY syndromes: not just variants of Klinefelter syndrome. MedlinePlus also links to health information from non-government Web sites. Hum Reprod. Clinical review: Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Salzano A, Arcopinto M, Marra AM, et al. 2007 Jan. 99(1):141-6. The Klinefelter syndrome: current management and research challenges. [Full Text]. J Endocrinol Invest. The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Paduch DA, Fine RG, Bolyakov A, Kiper J. 2006 Nov. 6(1):33-6. Ottesen AM, Garn ID, Aksglaede L, Juul A, Rajpert-De Meyts E. A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Review. Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. 2011 Jun. Jacobs PA, Strong JA. 2. [Medline]. Adv Pediatr. 69(6):317-26. [Medline]. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. 37(4):477-80. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. To use the sharing features on this page, please enable JavaScript. Klinefelter HF Jr, Reifenstein EC Jr, Albright F. Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. [9] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. 175 (1):R27-40. Females have two X sex chromosomes (XX). [Full Text]. J Pediatr. 2000 Oct. 74(4):832-3. 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. 2006 Oct 24. 2006 Jul. Sokol RZ. Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta 1959 Jan 31. Am J Med Genet A. Close S, Sadler L, Grey M. In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome. Expert Rev Mol Diagn. Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, et al. Epub 2012 Nov 1. Review. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading. Genet Med. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. [Medline]. Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. (Rarely, other cells may have additional chromosome abnormalities.) 2008 Nov. 18(6):621-7. [Medline]. Samango-Sprouse C, Stapleton EJ, Lawson P, et al. 2017 Mar 10. [Full Text]. Hum Reprod. Learn more. 2011 Oct;34(5 Pt 2):e348-9. 97(16):1204-10. Bardsley MZ, Falkner B, Kowal K, Ross JL. Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. [Medline]. 2017 Mar. Bonduelle M, Aytoz A, Van Assche E, Devroey P, Liebars I, VanSteirteghem A. [Medline]. 2015 Sep. 167 (3):650-7. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis. Epub 2011 Mar 31. 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. 2005 Aug 17;97(16):1204-10. Some people with features of Klinefelter syndrome have an extra X chromosome in only some of their cells; other cells typically have one X and one Y chromosome. If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs … Epub 2012 Jun 15. Review. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. [Medline]. [Medline]. Luis O Rohena, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human GeneticsDisclosure: Nothing to disclose. 81 (6):795-806. Klinefelter syndrome: clinical and molecular aspects. 13(7):1887-92. Curr Opin Urol. Fertil Steril. Allyse M, Minear MA, Berson E, et al. [Medline]. Prenat Diagn. [Medline]. Please confirm that you would like to log out of Medscape. Aguirre D, Nieto K, Lazos M, et al. Lahlou N, Fennoy I, Ross JL, Bouvattier C, Roger M. Clinical and hormonal status of infants with nonmosaic XXY karyotype. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. 2009 Sep. 182(3):1108-13. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances Giedd JN, Clasen LS, Wallace GL, et al. 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