Herlihy AS, McLachlan RI, Gillam L, Cock ML, Collins V, Halliday JL. 2012 Aug. 98(2):261-5. The primary features are infertility and small poorly functioning testicles. [Medline]. 19(3):149-51. Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. Fertil Steril. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility. Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug ReferenceDisclosure: Nothing to disclose. [Medline]. Klinefelter Syndrome Instructional Tutorial Video: https://youtu.be/XzDxbVyvaM4 CanadaQBank.com It's not all about the testes: medical issues in Klinefelter See our, URL of this page: https://medlineplus.gov/genetics/condition/klinefelter-syndrome/. (Rarely, other cells may have additional chromosome abnormalities.) Hum Reprod. Samango-Sprouse C, Stapleton EJ, Lawson P, et al. Patients with Klinefelter syndrome may present with wide phenotypical variability resulting in a delay of diagnosis. 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. 1992 Jan. 36 (1):113-8. 2020 Jan. 9 (1):34-43. It was diagnosed in a patient who visited his doctor due to chronic testicular pain. Bonduelle M, Aytoz A, Van Assche E, Devroey P, Liebars I, VanSteirteghem A. Ross JL, Kushner H, Kowal K, et al. Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. Genes Brain Behav. Klinefelter's syndrome pathophysiology. [Full Text]. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. 1981 Apr. Clinical review: [Medline]. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. Karyotype is typically 47, XXY but other sex chromosome anomalies cause variations of Klinefelter syndrome. [Medline]. 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. Individuals with Klinefelter syndrome tend to have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention-deficit/hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning). Brain Behav. 1:42. [Medline]. Fertil Steril. [Medline]. Hum Reprod. syndrome: a cohort study. 2008. Klinefelter syndrome, also known as XXY syndrome, is a genetic disorder that involves an additional X sex chromosome in males. [Medline]. 1959. A case of Klinefelter's syndrome is described. 27(2):137-48. 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. 37 (5):497-501. Expert Rev Mol Diagn. Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center 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. J Clin Endocrinol Metab. Tachdjian G, Frydman N, Morichon-Delvallez N, et al. 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). 2013 These conditions include 48,XXXY syndrome, 48,XXYY syndrome, and 49,XXXXY syndrome. [Medline]. Bojesen A, Gravholt CH. 2007 Jan. 99(1):141-6. 2002 Mar. Nieschlag E, Ferlin A, Gravholt CH, Gromoll J, Köhler B, Lejeune H, Rogol AD, Lancet Neurol. Damani MN, Mittal R, Oates RD. 2001 Jun. [Medline]. Seo JT, Lee JS, Oh TH, Joo KJ. Other physical changes associated with Klinefelter syndrome are usually subtle. 2015. doi: [Medline]. Int J Womens Health. behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). Klinefelter syndrome and 47, XXY. Giedd JN, Clasen LS, Wallace GL, et al. 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. [Full Text]. [Full Text]. 2013 May;110(20):347-53. doi: Genet Med. Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome. Hum Reprod. 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. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. This review is aimed to provide the practicing urologist with an important source of clinically relevant information about Klinefelter syndrome. Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis. 2017 Mar. U.S. Department of Health and Human Services. Fertil Steril. Sokol RZ. 183(4657):302-3. 100(6):866-70. There are instances that the child shall develop mitral valve prolapsed. 2003 Feb. 18(2):271-5. [Full Text]. [9] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. J Am Heart Assoc. factors. Please confirm that you would like to log out of Medscape. As a result of the small testes and decreased hormone production, affected males are infertile but may benefit from assisted reproductive technologies. Screening for cancer (especially of the breast), deep vein thrombosis, and glucose intolerance is indicated + + [Medline]. Review. 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. Other than a thin build and disproportionately long arms and legs, the phenotype is normal. 2003 Jul-Aug. 9(4):309-17. Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta 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. E XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study. 2014 Mar. Hum Reprod. Klinefelter syndrome and mediastinal germ cell tumors. What are the different ways in which a genetic condition can be inherited? J Clin Endocrinol Metab. J Dev Behav Pediatr. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical 1959 Jan 31. 1997 Oct. 68(4):718-20. [Medline]. Hinney B, Guttenbach M, Schmid M, Engel W, Michelmann HW. 26 (1):58-72. 10.1111/j.1365-2605.2010.01132.x. 1998 Jan. 13(1):124-7. Fertility: assessment and treatment for people with fertility problems. Background: Klinefelter syndrome (KS) is one of the major causes of nonobstructive azoospermia (NOA). (XXY) 19. 37(4):477-80. 2001 Sep. 16(9):1909-11. The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. [Medline]. Wistuba J. A case of human intersexuality having a possible XXY sex-determining mechanism. 2009 Mar. Genetic Testing Registry: Klinefelter's syndrome, XXY, National Organization for Rare Disorders (NORD). 100(6):908-16. 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. [Medline]. Fertil Steril. … Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center 1942. [Medline]. The spectrum of the Yencilek F, Baykal C. 46 XX male syndrome: a case report. 97(16):1204-10. [Full Text]. Boks MP, de Vette MH, Sommer IE, et al. 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. To use the sharing features on this page, please enable JavaScript. Semin Reprod Med. Pediatrics. The Klinefelter syndrome: current management and research challenges. The recurrence risk is not increased above that of the general population. [Medline]. If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs … van Rijn S, de Sonneville L, Swaab H. The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). Moreover, mental capacity diminishes with additional X chromosomes. Adolescent male with gynecomastia and Klinefelter syndrome. 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. 2009 Sep. 182(3):1108-13. 2001 Nov. 76(5):1054-6. Klinefelter syndrome. Andrology. 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. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. [Medline]. How are genetic conditions treated or managed? 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. 2006 Apr. 2017 2008 Nov. 18(6):621-7. (1942), the syndrome was later identified as the most common chromosome disorder, presenting a supernumerary X chromosome (Jacobs and Strong, 1959) with … Germ cells do not survive in the testes, leading to decreased sperm and androgens. 2018 Feb 6. [Medline]. 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. Molecular and Systemic Pathophysiology Characterized by the addition of at least one extra X chromosome to a 46,XY male karyotype Zöller B, Ji J, Sundquist J, Sundquist K. High Risk of Venous Thromboembolism in Klinefelter Syndrome. [Medline]. 2012 Aug;98(2):261-5. doi: 2007 Apr. Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Natl Cancer Inst. 12(4):682-6. Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Successful fertility treatment for Klinefelter's syndrome. [Medline]. Hong DS, Reiss AL. Am J Med Genet A. Sex chromosome aneuploidy: the Denver Prospective Study. Review. 2006 Jul. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. 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. 15(4):284-94. Eur J Hum Genet. J Assist Reprod Genet. Hum Reprod. 2001 Nov. 69(5):1046-54. Several conditions resulting from the presence of more than one extra sex chromosome in each cell are sometimes described as variants of Klinefelter syndrome. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. [Medline]. Tanda-tanda & gejala Apa saja tanda-tanda dan gejala sindrom Klinefelter? Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading. This is written as XXY. [Medline]. Adv Pediatr. 2009;15(4):284-94. doi: 10.1002/ddrr.83. [Medline]. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. 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. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. 2007 Sep. 92(9):3458-65. Autoimmun Rev. in the Interdisciplinary Care of Children with Klinefelter Syndrome. [Guideline] Centre for Women's and Children's Health. [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). Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?. Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center C, Lenzi A. Females have two X sex chromosomes (XX). Paduch DA, Bolyakov A, Cohen P, Travis A. Reproduction in men with Klinefelter syndrome: the past, the present, and the future. New concepts in Klinefelter syndrome. 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]. 32 (4):263-4. Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly93d3cubWVkc2NhcGUuY29tL2Fuc3dlcnMvOTQ1NjQ5LTExNDkxNi93aGF0LWlzLXRoZS1wYXRob3BoeXNpb2xvZ3ktb2Yta2xpbmVmZWx0ZXItc3luZHJvbWU=. Tournaye H, Staessen C, Liebaers I, et al. 2011;5(3):109-23. doi: 10.1159/000327324. 2007 Jul. It is thought that less than 10 percent of individuals with Klinefelter syndrome have the mosaic form. It was clinically described for the first time by Kleinfelter in 1942. Horowitz M, Wishart JM, O'Loughlin PD, Morris HA, Need AG, Nordin BE. Van Opstal D, Los FJ, Ramlakhan S, et al. Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. Klinefelter HF Jr, Reifenstein EC Jr, Albright F. Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. Epub 2011 Mar 31. [Medline]. Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. 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. How can gene mutations affect health and development? [Full Text]. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. Jacobs PA, Strong JA. Klinefelter syndrome is the most frequent cause of primary hypergonadotropic hypogonadism (incidence 1:1,000 men). Epub 2011 Apr 29. Review. Close S, Sadler L, Grey M. In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome. Salzano A, Arcopinto M, Marra AM, et al. 2011 Jul. 13(3):306-18. 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). 2011 Jun. [Medline]. Extragonadal germ cell tumors are often associated with Klinefelter syndrome. Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). If you log out, you will be required to enter your username and password the next time you visit. Genital anomalies in Klinefelter's syndrome. 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. [Medline]. Deebel NA, Galdon G, Zarandi NP, et al. XXY/Klinefelter Syndrome, XYY, and XXYY. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk. 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. Paduch DA, Fine RG, Bolyakov A, Kiper J. Hum Reprod Update. Epub 2011 Apr 8. Boys and men with Klinefelter syndrome have an extra copy of multiple genes on the X chromosome. 1988 Jun. [Full Text]. 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. J Pediatr Nurs. 7:113-26. Klinefelter syndrome is the most prevalent sex chromosomal disorder in the male population. It occurs as a random error during cell division early in fetal development. Adv Pediatr. 65(1):92-7. Hum Reprod. Hypergonadotropic hypogonadism and infertility are present in nearly all patients with Klinefelter’s. Cancer incidence and mortality in men with Klinefelter Samango-Sprouse C, Keen C, Sadeghin T, Gropman A. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … patients. 1. The population frequency is 1: 1000 males. Horm Res. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Klinefelter syndrome--a clinical update. Cognitive and neurological aspects of sex chromosome aneuploidies. [Medline]. 10.1016/j.fertnstert.2012.05.026. [Medline]. Klinefelter's syndrome is reviewed by comparing it with this clinical case. 100 (6):824-9. Close S, Fennoy I, Smaldone A, Reame N. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. The extra X chromosomes are maternally derived in 60% of cases. [Medline]. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Microdissection testicular sperm extraction (micro-TESE) is often performed to retrieve sperm. First described by Klinefelter et al. 68(3):150-5. 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. Apr;38(3):197-207. doi: 10.1097/DBP.0000000000000429. 2015 Jun. Older children and adults with the condition tend to be somewhat taller than their peers. [Medline]. Testosterone is the hormone that directs male sexual development before birth and during puberty. Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. [Medline]. 81 (6):795-806. All material on this website is protected by copyright, Copyright © 1994-2020 by WebMD LLC. Dev Disabil Res Rev. Staessen C, Coonen E, Van Assche E, 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. Hum Reprod Update. 10.3238/arztebl.2013.0347. 2006 Nov. 6(1):33-6. Tartaglia N, Cordeiro L, Howell S, Wilson R, Janusz J. 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. 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. J Urol. 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. Robinson A, Bender BG, Linden MG, Salbenblatt JA. 2011 Oct;34(5 Pt 2):e348-9. The intelligence quotient (IQ) score is reduced by approximately 15 points for each supernumerary X chromosome, but conclusions about reduced mental capacity must be drawn cautiously. The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. Thomas NS, Hassold TJ. Acta Paediatr. 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 … It is among the most common sex chromosome disorders, which are conditions caused by changes in the number of sex chromosomes (the X chromosome and the Y chromosome). Hum Reprod. [Medline]. 19(4):275-80. N Engl J Med. Fertil Steril. Klinefelter syndrome in clinical practice. Frühmesser A, Kotzot D. Chromosomal variants in klinefelter syndrome. J Endocrinol Invest. Consensus statement on diagnosis and clinical management of 140(5):471-81. 2016 Jul. 2006 Oct 24. 2017 May. However, the features of these disorders tend to be more severe than those of Klinefelter syndrome and affect more parts of the body. [Medline]. Boys and men with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves. [Medline]. Klinefelter syndrome: clinical and molecular aspects. Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, et al. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. 2016 May 20. The syndrome was first identified with a specific chromosomal abnormality in 1959 by British researcher Patricia A. Jacobs and her colleagues. Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. Epub 2012 Nov 1. Review. [Medline]. [Medline]. 2:615-24. Acta Paediatr. [Full Text]. Dev Disabil Res Rev. Klinefelter syndrome affects about 1 in 650 newborn boys. A case of human intersexuality having possible XXY sex-determining mechanism. Herlihy AS, Gillam L. Thinking outside the square: considering gender in MedlinePlus also links to health information from non-government Web sites. Researchers are working to determine which genes contribute to the specific developmental and physical differences that can occur with Klinefelter syndrome. Users with questions about a personal health condition should consult with a qualified healthcare professional. The Klinefelter syndrome: current management and research challenges. 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). 175 (1):R27-40. Klinefelter's syndrome is a notorious case in point. Schizophr Res. 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. 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. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA,. 13(7):1887-92. Allyse M, Minear MA, Berson E, et al. [Medline]. BJU Int. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Hum Pathol. J Clin Endocr Metabl. Acta Paediatr. Klinefelter syndrome occurs if boys are born with an extra X chromosome. Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. [Full Text]. 2010 Dec;33(11):839-50. Review. Often, symptoms are subtle and subjects do not realize they are affected. Mosaic Klinefelter syndrome (46,XY/47,XXY) is also not inherited. 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). Skakkebaek A, Moore PJ, Pedersen AD, et al. 5 (5):[Medline]. Jacobs PA, Strong JA. 2004 Dec. 89(12):6208-17. 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. Sex Dev. Curr Opin Urol. Birth Defects Orig Artic Ser. It isn't an inherited condition.Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. Rovenský J. Rheumatic diseases and Klinefelter's syndrome. 2. often overlooked or untreated. Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. 1996 Aug. 11(8):1650-3. 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. Aguirre D, Nieto K, Lazos M, et al. 100(6):851-60. Nieschlag E. Klinefelter syndrome: the commonest form of hypogonadism, but 1997 Apr. 2005 Aug 17. Palermo GD, Schlegel PN, Sills ES, et al. 2007 Oct. 13 (10):745-50. [Full Text]. Like Klinefelter syndrome, these conditions affect male sexual development and can be associated with learning disabilities and problems with speech and language development. [Full Text]. Am J Med Genet C Semin Med Genet. 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 … 1996 Aug. 11(8):1644-9. Pediatrics: Genetics and Metabolic Disease, American College of Medical Genetics and Genomics. 1998. Venous thromboembolic disease in Klinefelter's syndrome. Int J Androl. Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives. J Pediatr. Lahlou N, Fennoy I, Ross JL, Bouvattier C, Roger M. Clinical and hormonal status of infants with nonmosaic XXY karyotype. 2011 Jun. Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 2001 Aug. 76(2):249-53. Am J Hum Genet. Men with Klinefelter syndrome present with sequels of hormonal and spermatogenic testicular failure like infertility, low testosterone, erectile dysfunction, and low bone mineral density. [Medline]. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. Physiologically, males inherit one … [Full Text]. Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of PediatricsDisclosure: Nothing to disclose. 4 (3):545-9. Klinefelter syndrome: a review of the literature including genetic and hormonal 75 (6):1102-5. [Medline]. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Last Updated on Fri, 18 Sep 2020 | Testosterone Levels. 2:164-67. Orphanet J Rare Dis. 2010 Sep;10(6):765-76. doi: 10.1586/erm.10.63. Males have an X and a Y sex chromosome (XY).Klinefelter syndrome can be caused by: 1. Review. [Full Text]. Andrology. An extra X chromosome in some of the cel… Klinefelter syndrome is named for Harry Klinefelter, an American physician who in 1942 described a set of symptoms that characterized the condition. J Clin Endocrinol Metab. [Full Text]. [Medline]. (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.). 2011 Jun. [Medline]. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). J Clin Endocrinol Metab. What is the prognosis of a genetic condition? 2010 Dec;8 Suppl 1:151-9. Review. J Natl Cancer Inst. 2005 Nov. 90 (11):6263-7. 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. 2006 Mar 1. Mol Hum Reprod. Cytogenetics Group. Clin Pediatr (Phila). Epub 2013 May 17. Review. Learn more. van Rijn S, Swaab H. Vulnerability for psychopathology in Klinefelter syndrome: age-specific and cognitive-specific risk profiles. The sharing features on this page: https: //medlineplus.gov/genetics/condition/klinefelter-syndrome/ genetic diagnosis and adults with condition... Intelligence, personality, and cognitive development are more likely to be affected instances the! Phenotype is normal spermatogonia in patients with Klinefelter syndrome a disorder seems to in. Two of which are the sex chromosomes parental gametogenesis in either the or. Dan gejala sindrom Klinefelter in 60 % of cases Vulnerability for psychopathology Klinefelter... Fetal development of pubic hair and testicular dysgenesis cell are sometimes described mosaic! Is thought that less than 10 percent of boys and men that affect... 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