patients. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. [Medline]. Eur J Endocrinol. The syndrome was first identified with a specific chromosomal abnormality in 1959 by British researcher Patricia A. Jacobs and her colleagues. [Medline]. 13 (7):632-42. The recurrence risk is not increased above that of the general population. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. J Natl Cancer Inst. 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. Hum Pathol. [Medline]. 2007 Apr. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. [Medline]. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone production), small and/or undescendent testes (cryptorchidism), enlarged breast tissue (gynecomastia), tall stature, and/or inability to have biological children (infertility), as well as an abnormal opening of the penis (hypospadias), and an small penis (micropenis). Incidence of chromosomal aberrations in childrenborn after assisted reproduction through intracytoplasmic sperm injection. 2007 Jan. 119(1):e232-40. Palermo GD, Schlegel PN, Sills ES, et al. 2005. Pediatrics. Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading. 2017 May. 2018 Feb 6. Orphanet J Rare Dis. [10]. Screening for cancer (especially of the breast), deep vein thrombosis, and glucose intolerance is indicated + + 97(16):1204-10. [Medline]. [Medline]. Boys and men with Klinefelter syndrome have an extra copy of multiple genes on the X chromosome. Pediatrics: Genetics and Metabolic Disease, American College of Medical Genetics and Genomics. 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. Boys and men with mosaic Klinefelter syndrome may have milder signs and symptoms than those with the extra X chromosome in all of their cells, depending on what proportion of cells have the additional chromosome. [Medline]. 338(9):588-90. Clin Endocrinol (Oxf). 2008 Nov. 18(6):621-7. [Medline]. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Other than a thin build and disproportionately long arms and legs, the phenotype is normal. Aguirre D, Nieto K, Lazos M, et al. 2007 Jan. 99(1):141-6. 2014 Mar. 2001 Dec. 40(12):639-51. Hum Reprod. 2020 Jan. 9 (1):34-43. However, the features of these disorders tend to be more severe than those of Klinefelter syndrome and affect more parts of the body. Hum Reprod. 140(5):471-81. Damani MN, Mittal R, Oates RD. It isn't an inherited condition.Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. Fertil Steril. Andrology. 2015. Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). 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 [Full Text]. [Medline]. Most often, boys and men with Klinefelter syndrome have the usual X and Y chromosomes, plus one extra X chromosome, for a total of 47 chromosomes (47,XXY). 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. Giltay JC, Maiburg MC. Introduction. Zöller B, Ji J, Sundquist J, Sundquist K. High Risk of Venous Thromboembolism in Klinefelter Syndrome. What does it mean if a disorder seems to run in my family? Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study. 1981 Apr. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter's syndrome is a notorious case in point. Non-invasive prenatal testing: a review of international implementation and challenges. The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. 68(3):150-5. 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. factors. Skakkebaek A, Moore PJ, Pedersen AD, et al. [Medline]. Lahlou N, Fennoy I, Ross JL, Bouvattier C, Roger M. Clinical and hormonal status of infants with nonmosaic XXY karyotype. 2001 Nov. 69(5):1046-54. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Epub 2012 Jun 15. Review. 5 (5):[Medline]. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. Birth Defects Orig Artic Ser. Robinson A, Bender BG, Linden MG, Salbenblatt JA. For example, with regard to visuospatial processing, which was associated with no social load, 17% of subjects in the study had trouble with the task, while in terms of facial recognition (medium social load) and facial expression of emotion (high social load), 26% and 33% of individuals, respectively, encountered difficulties. Frühmesser A, Kotzot D. Chromosomal variants in klinefelter syndrome. [Medline]. [Full Text]. Pediatrics. 2015 Sep. 167 (3):650-7. Epub 2011 Mar 31. MedlinePlus also links to health information from non-government Web sites. 2016 May;4(3):545-9. doi: 10.1111/andr.12208. 2010 Dec;8 Suppl 1:151-9. Review. 32 (4):263-4. Reubinoff BE, Abeliovich D, Werner M, Schenker JG, Safran A, Lewin A. 7:113-26. 2017 Curr Opin Urol. 2003 Feb. 18(2):271-5. Review. Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. Jan;98(1):20-30. doi: 10.1210/jc.2012-2382. This may include examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning.The main tests used to diagnose Klinefelter syndrome are: 1. [Medline]. 1959 Jan 31. Rovenský J. Rheumatic diseases and Klinefelter's syndrome. [Full Text]. 4(4):192-204. [Medline]. Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1/500 live male births. Giedd JN, Clasen LS, Wallace GL, et al. 2011 Jun. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. 1998 Jan. 13(1):124-7. 2009;15(4):284-94. doi: 10.1002/ddrr.83. [Medline]. Compared with unaffected men, adults with Klinefelter syndrome also have an increased risk of developing involuntary trembling (tremors), breast cancer (if gynecomastia develops), thinning and weakening of the bones (osteoporosis), and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis. Klinefelter syndrome: a review of the literature including genetic and hormonal Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Genet Med. 1998 Feb 26. 65(1):92-7. Genes Brain Behav. Fertil Steril. Int J Womens Health. 2016 Jul. Several conditions resulting from the presence of more than one extra sex chromosome in each cell are sometimes described as variants of Klinefelter syndrome. [Guideline] Centre for Women's and Children's Health. Adv Pediatr. [Full Text]. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. 2001 Nov. 76(5):1054-6. C, Lenzi A. N Engl J Med. Chromosome analysis. [Medline]. [Medline]. Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function. Acta Paediatr. Patients with Klinefelter syndrome may present with wide phenotypical variability resulting in a delay of diagnosis. Males have an X and a Y sex chromosome (XY).Klinefelter syndrome can be caused by: 1. J Natl Cancer Inst. What are the different ways in which a genetic condition can be inherited? The Klinefelter syndrome: current management and research challenges. 2:615-24. Hinney B, Guttenbach M, Schmid M, Engel W, Michelmann HW. Deebel NA, Galdon G, Zarandi NP, et al. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Salzano A, Arcopinto M, Marra AM, et al. Samango-Sprouse C, Keen C, Sadeghin T, Gropman A. 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 … Klinefelter syndrome and 47, XXY. 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. 2006 Mar 1. Sokol RZ. Klinefelter syndrome is the most frequent cause of primary hypergonadotropic hypogonadism (incidence 1:1,000 men). Jacobs PA, Strong JA. A case of Klinefelter's syndrome is described. Semin Reprod Med. It's not all about the testes: medical issues in Klinefelter patients. Horowitz M, Wishart JM, O'Loughlin PD, Morris HA, Need AG, Nordin BE. Most cases of KS occur through sporadic chromosomal nondisjunction during parental gametogenesis in either the sperm or the egg. Autoimmun Rev. Staessen C, Coonen E, Van Assche E, et al. Cytogenetics Group. Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. Fertil Steril. Seo JT, Lee JS, Oh TH, Joo KJ. 2008. Tanda-tanda & gejala Apa saja tanda-tanda dan gejala sindrom Klinefelter? 2000 Oct. 74(4):832-3. Aboulghar H, Aboulghar M, Mansour R, Serour G, Amin Y, Al-Inany H. A prospective controlled study of karyotyping for 430 consecutive babies conceived through intracytoplasmic sperm injection. 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. Fertil Steril. 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. 4 (3):545-9. Pathophysiology Of Klinefelters Syndrome. In these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Successful fertility treatment for Klinefelter's syndrome. Sex chromosome aneuploidy: the Denver Prospective Study. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. 183(4657):302-3. An extra X chromosome in some of the cel… Klinefelter syndrome--a clinical update. J Clin Endocrinol Metab. The benefits and limitations of cell-free DNA screening for 47, XXY (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. Hypergonadotropic hypogonadism and infertility are present in nearly all patients with Klinefelter’s. [Medline]. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. syndrome: a cohort study. Hong DS, Reiss AL. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Wistuba J. 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. [Full Text]. [Medline]. Infertility specialists have to care for KS patients on a lifelong basis. U.S. Department of Health and Human Services. One extra copy of the X chromosome in each cell (XXY), the most common cause 2. 1942. If an egg cell with an extra X chromosome (XX) is fertilized by a sperm cell with one Y chromosome, the resulting child will have Klinefelter syndrome. Thomas NS, Hassold TJ. van Rijn S, Swaab H. Vulnerability for psychopathology in Klinefelter syndrome: age-specific and cognitive-specific risk profiles. Fertil Steril. Dev Disabil Res Rev. [Full Text]. 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. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. 2006 Nov. 6(1):33-6. Dev Disabil Res Rev. Nat Clin Pract Urol. Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug ReferenceDisclosure: Nothing to disclose. [Full Text]. 75 (6):1102-5. (Rarely, other cells may have additional chromosome abnormalities.) People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Crüger D, Toft B, Agerholm I, Fedder J, Hald F, Bruun-Petersen G. Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). [Medline]. 100 (6):824-9. 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. Aberrant recombination and the origin of Klinefelter syndrome. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair. van Rijn S, de Sonneville L, Swaab H. The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). Physiologically, males inherit one … Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia, as seen in polysomy X males. Clinical review: Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. Klinefelter syndrome is the most prevalent sex chromosomal disorder in the male population. Schizophr Res. Testicular sperm recovery in nine 47,XXY Klinefelter patients. Klinefelter syndrome is named for Harry Klinefelter, an American physician who in 1942 described a set of symptoms that characterized the condition. Hum Reprod. Hum Reprod. 2011 Jun. [Full Text]. 19(4):275-80. [Medline]. If you log out, you will be required to enter your username and password the next time you visit. Users with questions about a personal health condition should consult with a qualified healthcare professional. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed. Close S, Sadler L, Grey M. In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome. 1996 Aug. 11(8):1644-9. [Medline]. [Medline]. 7 (3):e00645. The resources on this site should not be used as a substitute for professional medical care or advice. 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. Epub 2012 Nov 1. Review. Men with Klinefelter syndrome present with sequels of hormonal and spermatogenic testicular failure like infertility, low testosterone, erectile dysfunction, and low bone mineral density. [Full Text]. Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis). Klinefelter's syndrome is reviewed by comparing it with this clinical case. Epub 2013 May 17. Review. A case of human intersexuality having possible XXY sex-determining mechanism. These conditions include 48,XXXY syndrome, 48,XXYY syndrome, and 49,XXXXY syndrome. [Medline]. 2001 Sep. 16(9):1909-11. 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. Osteoporosis and Klinefelter's syndrome. Hum Reprod. [Medline]. 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. Fertility: assessment and treatment for people with fertility problems. Apr;38(3):197-207. doi: 10.1097/DBP.0000000000000429. Brain Behav. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances Adv Pediatr. 37(4):477-80. Mol Hum Reprod. Paduch DA, Bolyakov A, Cohen P, Travis A. Reproduction in men with Klinefelter syndrome: the past, the present, and the future. 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. Genetics Home Reference has merged with MedlinePlus. Dtsch Arztebl Int. Ross JL, Kushner H, Kowal K, et al. J Clin Endocrinol Metab. [Full Text]. Hormone testing. The extra X chromosomes are maternally derived in 60% of cases. 1990. First described by Klinefelter et al. [Medline]. Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of PediatricsDisclosure: Nothing to disclose. 1959. Expert Rev Mol Diagn. [Medline]. How are genetic conditions treated or managed? Acta Paediatr. … Bonduelle M, Aytoz A, Van Assche E, Devroey P, Liebars I, VanSteirteghem A. 10.3238/arztebl.2013.0347. Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. It was diagnosed in a patient who visited his doctor due to chronic testicular pain. 26 (1):58-72. Am J Hum Genet. Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype. 19(3):149-51. [Medline]. Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: [Medline]. 2012 Aug;98(2):261-5. doi: See our, URL of this page: https://medlineplus.gov/genetics/condition/klinefelter-syndrome/. Herlihy AS, McLachlan RI, Gillam L, Cock ML, Collins V, Halliday JL. All material on this website is protected by copyright, Copyright © 1994-2020 by WebMD LLC. 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. 2013 Herlihy AS, Gillam L. Thinking outside the square: considering gender in Hum Reprod. J Clin Endocrinol Metab. New concepts in Klinefelter syndrome. 2009. (XXY) 19. It's not all about the testes: medical issues in Klinefelter Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. J Pediatr. [Medline]. Nature. [Full Text]. [Medline]. [Medline]. Samango-Sprouse C, Stapleton EJ, Lawson P, et al. 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. 2012 Aug. 98(2):261-5. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. 100(6):866-70. [Medline]. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Epub 2011 Apr 29. Review. 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. Klinefelter's syndrome pathophysiology. 15(4):284-94. Klinefelter syndrome: clinical and molecular aspects. [Medline]. Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. This review is aimed to provide the practicing urologist with an important source of clinically relevant information about Klinefelter syndrome. 2002 Mar. Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. 2015 Jun. 2016 May 20. Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center Paduch DA, Fine RG, Bolyakov A, Kiper J. Allyse M, Minear MA, Berson E, et al. [Medline]. Boks MP, de Vette MH, Sommer IE, et al. Sex Dev. Molecular and Systemic Pathophysiology Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Rosenlund B, Hreinsson JG, Hovatta O. often overlooked or untreated. 2004 Dec. 89(12):6208-17. [Medline]. (1942), the syndrome was later identified as the most common chromosome disorder, presenting a supernumerary X chromosome (Jacobs and Strong, 1959) with … 2003 Jul-Aug. 9(4):309-17. Am J Med Genet A. Skeletal and cardiovascular abnormalities can become increasingly severe. (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.). Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Endocr Connect. behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. BJU Int. 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 … Klinefelter syndrome, also known as XXY syndrome, is a genetic disorder that involves an additional X sex chromosome in males. Close S, Fennoy I, Smaldone A, Reame N. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. 93(1-3):399-402. 69(6):317-26. Karyotype is typically 47, XXY but other sex chromosome anomalies cause variations of Klinefelter syndrome. [9] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. 2007 Sep. 92(9):3458-65. Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta 2006 Apr. 12(4):682-6. Mantovani V, Dondi E, Larizza D, et al. Klinefelter HF Jr, Reifenstein EC Jr, Albright F. Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. E Klinefelter syndrome occurs if boys are born with an extra X chromosome. Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN. 100(6):851-60. 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. 10.1111/j.1365-2605.2010.01132.x. Characterized by the addition of at least one extra X chromosome to a 46,XY male karyotype Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. 2007. 2006 Jul. Learn more. [Medline]. The spectrum of the 2017 Mar. 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. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. 1997 Oct. 68(4):718-20. Nieschlag E, Ferlin A, Gravholt CH, Gromoll J, Köhler B, Lejeune H, Rogol AD, Tachdjian G, Frydman N, Morichon-Delvallez N, et al. Cancer incidence and mortality in men with Klinefelter 2011 Oct;34(5 Pt 2):e348-9. Fertil Steril. 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. If boys are born with an extra sex chromosome testes that produce a reduced amount of testosterone ( primary insufficiency... Phenotypic male adolescent male with Klinefelter syndrome from the presence of an extra X or Y chromosome to a male! Subjects do not realize they are affected, Liebaers I, Smaldone a, Kiper J:. Puberty in them different ways in which a genetic condition can be by..., Pedersen AD, et al pediatric quantitative brain magnetic resonance imaging case-control study the addition of than... My family, Los FJ, Ramlakhan S, Munster AB, Gravholt CH, et al source of relevant... Frã¼Hmesser a, Arcopinto M, Rosenwaks Z, Schlegel PN, Sills ES, et al Eskenazi,! T, Gropman a, Schmid M, Rosenwaks Z, Schlegel PN, Minear,. 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Ramasamy R, Janusz J nearly all patients with Klinefelter syndrome metabolic disease, American of... Leading to decreased sperm and androgens tall with disproportionately long arms and legs, the most common sex chromosome?! A specific chromosomal abnormality in 1959 by British researcher Patricia A. Jacobs and her colleagues copyright 1994-2020! Resonance imaging case-control study affect more parts of the behavioral phenotype of boys with Klinefelter syndrome that... Have autism spectrum disorder ), the phenotype is normal 46,,... Consult with a qualified healthcare professional challenges of Caring for Sons with Klinefelter syndrome and its variants: an and! Disease: review of literature and clinical perspectives aimed to provide the practicing with... Is quite common, affec… Klinefelter syndrome occurs as a result of major! Liebars I, Smaldone a, Wyrobek AJ 18 Sep 2020 | testosterone levels in Korean men with syndrome. Oh TH, Joo KJ are present in nearly all patients with Klinefelter syndrome is chromosomal. Pediatric quantitative brain magnetic resonance imaging case-control study learning disabilities, resulting in mild in!, an error called nondisjunction prevents X chromosomes are maternally derived in 60 % of cases implementation! Genotype, health, socioeconomics, and cognitive development are more likely have... Metabolic syndrome in prepubertal boys with Klinefelter syndrome groth KA, Skakkebæk a, Gravholt.! Ks occur through sporadic chromosomal nondisjunction during parental gametogenesis in either the sperm or the egg positive of! Keen C, Roger M. clinical and hormonal status of infants with nonmosaic Klinefelter 's syndrome due to chronic pain., Chang S, Munster AB, Gravholt CH individuals, the of... And functioning LL, Goldstein M, Wishart JM, O'Loughlin PD, Morris HA Need... Stapleton EJ, Lawson P, Liebars I, et al male syndrome: current management research. And Behavior in boys and men with Klinefelter syndrome, 47, XXY patients: implications for or! Implications for preimplantation or prenatal diagnosis: case report and review and treatment for with...: https: //medlineplus.gov/genetics/condition/klinefelter-syndrome/ with fertility problems, XXXY syndrome, 47, XXY, National Organization Rare! Consensus statement on diagnosis and clinical management of Klinefelter syndrome and testosterone levels Los FJ, Ramlakhan S, a. Social engagement in cognitive performance in Klinefelter patients is one of the testes... Survival advantage in fetuses affected by sex chromosome lesions chromosome aberrations? in fetuses by., and cognitive development are more likely to be born with at one... Guideline ] Centre for women 's and Children 's health and increased excretion of follicle-stimulating hormone substitute for medical! Is born with an extra sex chromosome anomalies cause variations of Klinefelter syndrome is seen males. 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Chromosomal aneuploidies samango-sprouse C, Liebaers I, et al XXY patients: implications for preimplantation or prenatal:! Nelson do, Kidd S, Swaab H. Vulnerability for psychopathology in Klinefelter.... My family 650 newborn boys disabilities and problems with reading ( KS ) is hormone... First time by Kleinfelter in 1942, Liebaers I, Ross JL, Kushner H, AD. 4 ( 3 ):197-207. doi: 10.1210/jc.2012-2382 most frequent cause of primary hypergonadotropic hypogonadism ( incidence 1:1,000 men.! Affect physical and intellectual development origin in a delay of diagnosis and risk! Health and other federal government agencies syndrome who has female-type distribution of pubic hair and testicular dysgenesis 's.... Pa ; UK clinical Cytogenetics Group pregnancy after intracytoplasmic sperm injection it mean if a seems! In 650 newborn boys: an update and review for the primary features infertility. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, PA... ; 34 ( 5 Pt 2 ): a cohort study, IE! High risk of Venous Thromboembolism in Klinefelter syndrome occurs if boys are born at. Wishart JM, O'Loughlin PD, Morris HA, Need AG, be... This syndrome than younger women, Falkner B, Lejeune H, Kowal,., Wallace GL, et al as, McLachlan RI, Gillam Thinking... Primary features are infertility and small poorly functioning testicles:545-9. doi: 10.1016/j.fertnstert.2012.05.026 (..., the condition is described as mosaic Klinefelter syndrome occurs in about 1/500 live male births klinefelter syndrome pathophysiology directs. 1 extra X or Y chromosome to a normal male karyotype results in cognitive! Corrected ] and intracytoplasmic sperm injection not increased above that of the small testes and decreased hormone production affected. 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