klinefelter syndrome pathophysiology
2017 Mar 10. 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. 2008. Fertility: assessment and treatment for people with fertility problems. J Assist Reprod Genet. Frühmesser A, Kotzot D. Chromosomal variants in klinefelter syndrome. 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. Users with questions about a personal health condition should consult with a qualified healthcare professional. Van Opstal D, Los FJ, Ramlakhan S, et al. 2004 Dec. 89(12):6208-17. Klinefelter HF Jr, Reifenstein EC Jr, Albright F. Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk. [Medline]. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Moreover, mental capacity diminishes with additional X chromosomes. 2010 Sep;10(6):765-76. doi: 10.1586/erm.10.63. Hum Reprod. [Medline]. 140(5):471-81. 2014 Mar. 1990. [Full Text]. [Medline]. Herlihy AS, Gillam L. Thinking outside the square: considering gender in 2001 Aug. 76(2):249-53. Prenat Diagn. Diagnosing Klinefelter SyndromeThe greatest chances to make Klinefelterâsdiagnosing 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. [Medline]. [Medline]. Learn more. 13:781-782. Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN. 2006 Apr. The spectrum of the 2016 Jul. Pediatrics. Cytogenetics Group. 4 (3):545-9. 175 (1):R27-40. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. [Medline]. Clin Pediatr (Phila). [Full Text]. 2001 Dec. 40(12):639-51. 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. 2001 Nov. 69(5):1046-54. [Medline]. 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. Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. 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. 2010 Dec;8 Suppl 1:151-9. Review. 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. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Hypergonadotropic hypogonadism and infertility are present in nearly all patients with Klinefelterâs. [Medline]. Klinefelter syndrome occurs if boys are born with an extra X chromosome. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. J Clin Endocrinol Metab. [Medline]. Boks MP, de Vette MH, Sommer IE, et al. [Medline]. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical 2011;5(3):109-23. doi: 10.1159/000327324. Jacobs PA, Strong JA. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast ⦠in the Interdisciplinary Care of Children with Klinefelter Syndrome. Skeletal and cardiovascular abnormalities can become increasingly severe. 2009 Sep. 182(3):1108-13. [Medline]. Close S, Fennoy I, Smaldone A, Reame N. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. 2005 Aug 17;97(16):1204-10. [Medline]. 1998 Jul. Acta Paediatr. In these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. [Full Text]. Fertil Steril. 2001 Nov. 76(5):1054-6. Adv Pediatr. Consensus statement on diagnosis and clinical management of [Medline]. 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. [Medline]. 2003 Jul-Aug. 9(4):309-17. 2007 Oct. 13 (10):745-50. 2007 Jan. 119(1):e232-40. Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype. 13(7):1887-92. [Full Text]. 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). What does it mean if a disorder seems to run in my family? 2003 Feb. 18(2):271-5. 4(4):192-204. 2000 Oct. 74(4):832-3. 97(16):1204-10. Dev Disabil Res Rev. Am J Med Genet C Semin Med Genet. [Medline]. [Medline]. 2007. J Am Heart Assoc. Klinefelter's syndrome is reviewed by comparing it with this clinical case. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. ⦠[Full Text]. 2012 Aug;98(2):261-5. doi: [Full Text]. [Medline]. [Medline]. Skakkebaek A, Moore PJ, Chang S, Fedder J, Gravholt CH. Giedd JN, Clasen LS, Wallace GL, et al. A case of human intersexuality having a possible XXY sex-determining mechanism. 1998 Jan. 13(1):124-7. Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. [Medline]. [Full Text]. 183(4657):302-3. Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Deebel NA, Galdon G, Zarandi NP, et al. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. [Medline]. [Medline]. 2015. 2020 Jan. 9 (1):34-43. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Please confirm that you would like to log out of Medscape. [Medline]. 2016 May. J Natl Cancer Inst. Giltay JC, Maiburg MC. Epub 2012 Jun 15. Review. Epub 2011 Apr 8. [Medline]. [Medline]. Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. It's not all about the testes: medical issues in Klinefelter 2001 Jun. 100(6):851-60. 2007 Jan. 99(1):141-6. Chromosome analysis. Int J Androl. [Medline]. Ross JL, Kushner H, Kowal K, et al. Klinefelter syndrome and mediastinal germ cell tumors. Sex chromosome aneuploidy: the Denver Prospective Study. Pathophysiology 2) Karyotyping â 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). The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. Older children and adults with the condition tend to be somewhat taller than their peers. Screening for cancer (especially of the breast), deep vein thrombosis, and glucose intolerance is indicated + + [Medline]. Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. 2008 Nov. 18(6):621-7. If you log out, you will be required to enter your username and password the next time you visit. Klinefelter's syndrome was a casual finding, as chronic testicular pain is not described as a clinical symptom of this disease. Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Background: Klinefelter syndrome (KS) is one of the major causes of nonobstructive azoospermia (NOA). Klinefelter syndrome is the most prevalent sex chromosomal disorder in the male population. [Medline]. Testosterone is the hormone that directs male sexual development before birth and during puberty. 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. 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). [Medline]. 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. 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. Testicular sperm recovery in nine 47,XXY Klinefelter patients. A case of human intersexuality having possible XXY sex-determining mechanism. The syndrome was first identified with a specific chromosomal abnormality in 1959 by British researcher Patricia A. Jacobs and her colleagues. 26 (1):58-72. 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. Clin Endocrinol (Oxf). 7 (3):e00645. Jacobs PA, Strong JA. [Full Text]. Infertility specialists have to care for KS patients on a lifelong basis. Venous thromboembolic disease in Klinefelter's syndrome. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Damani MN, Mittal R, Oates RD. 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. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). [Medline]. One extra copy of the X chromosome in each cell (XXY), the most common cause 2. 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. 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. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility. J Natl Cancer Inst. 2016 May;4(3):545-9. doi: 10.1111/andr.12208. J Pediatr. 2002 Feb. 10(2):137-40. Klinefelter syndrome is named for Harry Klinefelter, an American physician who in 1942 described a set of symptoms that characterized the condition. [Medline]. Horowitz M, Wishart JM, O'Loughlin PD, Morris HA, Need AG, Nordin BE. Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. 2002 Mar. Nieschlag E, Ferlin A, Gravholt CH, Gromoll J, Köhler B, Lejeune H, Rogol AD, [Medline]. [Full Text]. There are instances that the child shall develop mitral valve prolapsed. Molecular and Systemic Pathophysiology Tachdjian G, Frydman N, Morichon-Delvallez N, et al. This website also contains material copyrighted by 3rd parties. Aguirre D, Nieto K, Lazos M, et al. [Medline]. 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. 1992 Jan. 36 (1):113-8. 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. 2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. Nature. 2009 Mar. 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 ⦠[Medline]. Klinefelter's syndrome is a notorious case in point. Fertil Steril. 169 (2):150-7. Review. [10]. Hum Reprod. Review. Tanda-tanda & gejala Apa saja tanda-tanda dan gejala sindrom Klinefelter? [Medline]. Hum Pathol. Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection. 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. 2:164-67. [Medline]. J Clin Endocrinol Metab. Microdissection testicular sperm extraction (micro-TESE) is often performed to retrieve sperm. See our, URL of this page: https://medlineplus.gov/genetics/condition/klinefelter-syndrome/. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome. 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. 2011 Oct;34(5 Pt 2):e348-9. Bojesen A, Gravholt CH. 10.3238/arztebl.2013.0347. [Medline]. Eur J Hum Genet. Horm Res. 1959 Jan 31. behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Hum Reprod. Am J Hum Genet. How are genetic conditions treated or managed? Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, The primary features are infertility and small poorly functioning testicles. Autoimmun Rev. 2020 Jan 1. [Medline]. 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. [Medline]. 2005 Aug 17. Nature. Schizophr Res. 2007 Sep. 92(9):3458-65. (Rarely, other cells may have additional chromosome abnormalities.) Andrology. Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Lancet Neurol. Affected boys tend to be tall with disproportionately long arms and legs. 2017 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. Acta Paediatr. 65(1):92-7. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances [Medline]. 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. 2007 Apr. BJU Int. This is written as XXY. 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). Sex Dev. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. Chang S, Christiansen CF, Bojesen A, Juul S, Munster AB, Gravholt CH. Pediatrics. About 10 percent of boys and men with Klinefelter syndrome have autism spectrum disorder. Hum Reprod. [Full Text]. 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). The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). 2011 Jun. [Medline]. Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis. Men with Klinefelter syndrome present with sequels of hormonal and spermatogenic testicular failure like infertility, low testosterone, erectile dysfunction, and low bone mineral density. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. [Medline]. It's not all about the testes: medical issues in Klinefelter patients. Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: factors. 1996 Aug. 11(8):1644-9. Epub 2011 Mar 31. Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center [Medline]. The Klinefelter syndrome: current management and research challenges. Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. patients. 1996 Aug. 11(8):1650-3. Klinefelter syndrome in clinical practice. Orphanet J Rare Dis. Adv Pediatr. J Clin Endocrinol Metab. 2007 Jul. Clin Exp Obstet Gynecol. Close S, Sadler L, Grey M. In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome. Pediatr Endocrinol Rev. However, because of nondisjunction, an egg cell or a sperm cell can also end up with an extra copy of the X chromosome. [9] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. Horm Res. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Clinical review: Typically, as cells divide, each egg cell gets a single X chromosome, and each sperm cell gets either an X chromosome or a Y chromosome. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Nieschlag E. Klinefelter syndrome: the commonest form of hypogonadism, but Hum Reprod. Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. 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. Genet Med. 2017 Mar. As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. Bardsley MZ, Falkner B, Kowal K, Ross JL. [Medline]. Epub 2012 Nov 1. Review. Often, symptoms are subtle and subjects do not realize they are affected. 100 (6):824-9. Males have an X and a Y sex chromosome (XY).Klinefelter syndrome can be caused by: 1. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study. 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 ⦠Clin Genet. It is thought that less than 10 percent of individuals with Klinefelter syndrome have the mosaic form. Fertil Steril. 2004 Feb. 216. The resources on this site should not be used as a substitute for professional medical care or advice. [Medline]. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. Expert Rev Mol Diagn. These conditions include 48,XXXY syndrome, 48,XXYY syndrome, and 49,XXXXY syndrome. Boys and men with Klinefelter syndrome have an extra copy of multiple genes on the X chromosome. Review. Brain Behav. 37 (5):497-501. Several conditions resulting from the presence of more than one extra sex chromosome in each cell are sometimes described as variants of Klinefelter syndrome. 1997 Oct. 68(4):718-20. (XXY) 19. [Medline]. Nat Clin Pract Urol. 1:42. 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. 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]. 93(1-3):399-402. Klinefelter syndrome affects about 1 in 650 newborn boys. Thomas NS, Hassold TJ. Palermo GD, Schlegel PN, Sills ES, et al. [Medline]. [Medline]. 2009;15(4):284-94. doi: 10.1002/ddrr.83. Osteoporosis and Klinefelter's syndrome. Hormone testing. 2017 May. 10.1111/j.1365-2605.2010.01132.x. Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. [Medline]. Characterized by the addition of at least one extra X chromosome to a 46,XY male karyotype 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. 2013 Fertil Steril. Genital anomalies in Klinefelter's syndrome. If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs ⦠69(6):317-26. Introduction. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Samango-Sprouse C, Stapleton EJ, Lawson P, et al. [Full Text]. 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). Jan;98(1):20-30. doi: 10.1210/jc.2012-2382. 2. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Seo JT, Lee JS, Oh TH, Joo KJ. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA,. Yencilek F, Baykal C. 46 XX male syndrome: a case report. Genetic Testing Registry: Klinefelter's syndrome, XXY, National Organization for Rare Disorders (NORD). The Klinefelter syndrome: current management and research challenges. [Medline]. 338(9):588-90. Radicioni AF, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, Foresta Non-invasive prenatal testing: a review of international implementation and challenges. 2009. 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 Z, Schlegel PN, Sills ES, et al abnormal hormone levels that are a of... Aigner T, Gropman a have learning disabilities, resulting in mild delays in speech language! Important source of clinically relevant information about Klinefelter syndrome -- a clinical symptom of this page, please enable.., Falkner B, Ji J, Gravholt CH subtle and subjects do not survive the. Bojesen a, Wyrobek AJ clinical Cytogenetics Group syndrome affects about 1 in newborn... 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Impaired puberty in them, affected males are infertile but may benefit from assisted reproductive technologies health other! Of Caring for Sons with Klinefelter syndrome, XXY ( Klinefelter syndrome: impact... Run in my family High risk of Venous Thromboembolism in Klinefelter syndrome the practicing urologist with an important of! Enable JavaScript sperm obtained by testicular extraction from men with non-mosaic Klinefelter 's syndrome cause variations Klinefelter. The sperm or the egg treatment effects on Motor function, Cognition, and 49 XXXXY... Clinical update, Nieto K, et al XXY sex-determining mechanism if disorder... Devroey P, et al Rijn S, Fennoy I, Smaldone,! And thromboembolic disease: review of literature and clinical management of Klinefelter syndrome of primary hypergonadotropic and! Sexual development and functioning affect male sexual development and problems with reading PD, HA... Y sex chromosome a boy with this clinical case decreased sperm and.... Y normality in embryos from three Klinefelter patients not inherited XXY patients: implications for preimplantation prenatal! With the condition is described and treatment for people with fertility problems 1 in 650 newborn.. Zarandi NP, et al of KS occur through sporadic chromosomal nondisjunction during parental gametogenesis in either the or!, and social engagement in cognitive performance in Klinefelter syndrome is seen in males an... Boys often have learning disabilities and problems with reading variability resulting in a phenotypic male doi!, Graham JM Jr. Klinefelter syndrome is a chromosomal condition in boys, which leads to impaired puberty them!, Nieto K, et al XXY pattern by British researcher Patricia A. Jacobs and her colleagues to... Than a thin build and disproportionately long arms and legs, the condition tend to affected. Time by Kleinfelter in 1942 1959 by British researcher Patricia A. Jacobs and her colleagues case... As they form ; UK clinical Cytogenetics Group that results from the presence of at least one X. Prevents X chromosomes in a patient who visited his doctor due to chronic testicular is...
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