15(4):284-94. 2011;5(3):109-23. doi: 10.1159/000327324. Robinson A, Bender BG, Linden MG, Salbenblatt JA. Int J Womens Health. Acta Paediatr. [Guideline] Centre for Women's and Children's Health. 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. 2001 Dec. 40(12):639-51. Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. [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). Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?. Genetics Home Reference has merged with MedlinePlus. New concepts in Klinefelter syndrome. Fertil Steril. Seo JT, Lee JS, Oh TH, Joo KJ. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances 5 (5):[Medline]. factors. 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. Brain Behav. [Full Text]. What does it mean if a disorder seems to run in my family? J Clin Endocrinol Metab. Lancet Neurol. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. 1998. Sex Dev. Dtsch Arztebl Int. Int J Androl. Klinefelter syndrome and mediastinal germ cell tumors. Deebel NA, Galdon G, Zarandi NP, et al. 140(5):471-81. J Natl Cancer Inst. [Full Text]. 1959 Jan 31. [Medline]. How are genetic conditions treated or managed? If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs … Incidence of chromosomal aberrations in childrenborn after assisted reproduction through intracytoplasmic sperm injection. Skeletal and cardiovascular abnormalities can become increasingly severe. Am J Hum Genet. (1942), the syndrome was later identified as the most common chromosome disorder, presenting a supernumerary X chromosome (Jacobs and Strong, 1959) with … [Medline]. Curr Opin Urol. [Full Text]. 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. 2006 Mar 1. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Moreover, mental capacity diminishes with additional X chromosomes. Fertil Steril. Adolescent male with gynecomastia and Klinefelter syndrome. The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. 2009. 100(6):908-16. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 2010 Dec;8 Suppl 1:151-9. Review. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly93d3cubWVkc2NhcGUuY29tL2Fuc3dlcnMvOTQ1NjQ5LTExNDkxNi93aGF0LWlzLXRoZS1wYXRob3BoeXNpb2xvZ3ktb2Yta2xpbmVmZWx0ZXItc3luZHJvbWU=. 2015 Jun. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Extragonadal germ cell tumors are often associated with Klinefelter syndrome. [Medline]. 2011 Jun. J Urol. [Medline]. Andrology. Men with Klinefelter syndrome present with sequels of hormonal and spermatogenic testicular failure like infertility, low testosterone, erectile dysfunction, and low bone mineral density. Paduch DA, Bolyakov A, Cohen P, Travis A. Reproduction in men with Klinefelter syndrome: the past, the present, and the future. 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. [Medline]. [Medline]. 2017 Mar. [Medline]. 2000 Oct. 74(4):832-3. 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. 2007 Apr. Researchers are working to determine which genes contribute to the specific developmental and physical differences that can occur with Klinefelter syndrome. Rosenlund B, Hreinsson JG, Hovatta O. 7 (3):e00645. Wistuba J. The Klinefelter syndrome: current management and research challenges. Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. Pathophysiology Of Klinefelters Syndrome. 2015. 2007 Jul. [Medline]. (XXY) 19. Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Close S, Fennoy I, Smaldone A, Reame N. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. Skakkebaek A, Moore PJ, Pedersen AD, et al. 97(16):1204-10. 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. J Pediatr. Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection. 2020 Jan. 9 (1):34-43. Birth of a healthy male after frozen thawed blastocyst transfer following intracytoplasmic injection of frozen thawed testicular spermatozoa from a man with nonmosaic Klinefelter's syndrome. Allyse M, Minear MA, Berson E, et al. [Medline]. 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. 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. 1981 Apr. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Klinefelter HF Jr, Reifenstein EC Jr, Albright F. Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. Herlihy AS, McLachlan RI, Gillam L, Cock ML, Collins V, Halliday JL. Yencilek F, Baykal C. 46 XX male syndrome: a case report. [Medline]. Klinefelter's syndrome is reviewed by comparing it with this clinical case. Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of PediatricsDisclosure: Nothing to disclose. 75 (6):1102-5. Physiologically, males inherit one … 1998 Jul. 65(1):92-7. Pediatrics. [Medline]. [Medline]. … Klinefelter syndrome is the most frequent cause of primary hypergonadotropic hypogonadism (incidence 1:1,000 men). [Medline]. Hinney B, Guttenbach M, Schmid M, Engel W, Michelmann HW. [Full Text]. 2014 Mar. 4(4):192-204. 13(7):1887-92. N Engl J Med. Klinefelter's syndrome pathophysiology. [Full Text]. Am J Med Genet A. [Medline]. 2012 Aug;98(2):261-5. doi: Fertil Steril. Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). 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. [10]. Nature. [Medline]. Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, et al. Older children and adults with the condition tend to be somewhat taller than their peers. 2001 Sep. 16(9):1909-11. Lahlou N, Fennoy I, Ross JL, Bouvattier C, Roger M. Clinical and hormonal status of infants with nonmosaic XXY karyotype. Hormone testing. 4 (3):545-9. 2006 Nov. 6(1):33-6. Nature. Acta Paediatr. It's not all about the testes: medical issues in Klinefelter patients. Schizophr Res. 2020 Jan 1. 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). Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. Other than a thin build and disproportionately long arms and legs, the phenotype is normal. [Medline]. Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Palermo GD, Schlegel PN, Sills ES, et al. Boys and men with Klinefelter syndrome have an extra copy of multiple genes on the X chromosome. 2010 Sep;10(6):765-76. doi: 10.1586/erm.10.63. 19(3):149-51. in the Interdisciplinary Care of Children with Klinefelter Syndrome. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Apr;38(3):197-207. doi: 10.1097/DBP.0000000000000429. [Medline]. 1998 Feb 26. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. The syndrome was first identified with a specific chromosomal abnormality in 1959 by British researcher Patricia A. Jacobs and her colleagues. C, Lenzi A. 1997 Oct. 68(4):718-20. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. 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 Klinefelter syndrome affects about 1 in 650 newborn boys. 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). Endocr Connect. Females have two X sex chromosomes (XX). Pediatr Endocrinol Rev. Learn more. As a result, some of the body's cells have the usual one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY). [Medline]. [Medline]. Genet Med. Hum Reprod. 37 (5):497-501. 2016 May. Testosterone is the hormone that directs male sexual development before birth and during puberty. 2008 Nov. 18(6):621-7. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. 1990. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. 2007. Tournaye H, Staessen C, Liebaers I, et al. [Full Text]. Tachdjian G, Frydman N, Morichon-Delvallez N, et al. Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center 2013 Cognitive and neurological aspects of sex chromosome aneuploidies. 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]. 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. 2017 Mar 10. 68(3):150-5. Fertil Steril. The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. 2006 Oct 24. Mantovani V, Dondi E, Larizza D, et al. Am J Med Genet C Semin Med Genet. Hum Reprod. Klinefelter syndrome: clinical and molecular aspects. Birth Defects Orig Artic Ser. Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. BJU Int. It occurs as a random error during cell division early in fetal development. Users with questions about a personal health condition should consult with a qualified healthcare professional. 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. patients. [Medline]. 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Hum Reprod Update. Molecular and Systemic Pathophysiology All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. Bojesen A, Gravholt CH. Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. Consensus statement on diagnosis and clinical management of Dev Disabil Res Rev. First described by Klinefelter et al. 2018 Feb 6. However, the features of these disorders tend to be more severe than those of Klinefelter syndrome and affect more parts of the body. E Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. Non-invasive prenatal testing: a review of international implementation and challenges. Andrology. Orphanet J Rare Dis. Cancer incidence and mortality in men with Klinefelter Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. 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. 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. 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. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. [Medline]. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. Klinefelter Syndrome Instructional Tutorial Video: https://youtu.be/XzDxbVyvaM4 CanadaQBank.com A case of human intersexuality having a possible XXY sex-determining mechanism. 2001 Nov. 69(5):1046-54. Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. Adv Pediatr. Close S, Sadler L, Grey M. In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome. Chromosome analysis. Sex chromosome aneuploidy: the Denver Prospective Study. Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk. 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). One extra copy of the X chromosome in each cell (XXY), the most common cause 2. Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. [Medline]. Aberrant recombination and the origin of Klinefelter syndrome. 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. The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). Hum Reprod. Horm Res. Campbell WA, Price WH. Males have an X and a Y sex chromosome (XY).Klinefelter syndrome can be caused by: 1. 100 (6):824-9. Venous thromboembolic disease in Klinefelter's syndrome. Most cases of KS occur through sporadic chromosomal nondisjunction during parental gametogenesis in either the sperm or the egg. Patients with Klinefelter syndrome may present with wide phenotypical variability resulting in a delay of diagnosis. Affected boys tend to be tall with disproportionately long arms and legs. J Pediatr Nurs. 2008. 2005. 2004 Dec. 89(12):6208-17. 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. Jacobs PA, Strong JA. Fertil Steril. Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Clin Pediatr (Phila). Semin Reprod Med. Eur J Endocrinol. [Medline]. 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. 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). 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). [Full Text]. Mosaic Klinefelter syndrome (46,XY/47,XXY) is also not inherited. Frühmesser A, Kotzot D. Chromosomal variants in klinefelter syndrome. [Medline]. [Medline]. Thomas NS, Hassold TJ. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … 2012 Aug. 98(2):261-5. 13 (7):632-42. [Medline]. [Medline]. J Dev Behav Pediatr. 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. Characterized by the addition of at least one extra X chromosome to a 46,XY male karyotype Klinefelter syndrome: a review of the literature including genetic and hormonal Often, symptoms are subtle and subjects do not realize they are affected. The Klinefelter syndrome: current management and research challenges. 2001 Aug. 76(2):249-53. [Medline]. 2018 Feb. 20 (2):214-22. [Medline]. This review is aimed to provide the practicing urologist with an important source of clinically relevant information about Klinefelter syndrome. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. J Natl Cancer Inst. 2:615-24. Fertil Steril. Klinefelter's syndrome is a notorious case in point. In these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). 2002 Mar. Hypergonadotropic hypogonadism and infertility are present in nearly all patients with Klinefelter’s. Zöller B, Ji J, Sundquist J, Sundquist K. High Risk of Venous Thromboembolism in Klinefelter Syndrome. 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. van Rijn S, Swaab H. Vulnerability for psychopathology in Klinefelter syndrome: age-specific and cognitive-specific risk profiles. Salzano A, Arcopinto M, Marra AM, et al. [Medline]. Germ cells do not survive in the testes, leading to decreased sperm and androgens. Genes Brain Behav. Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center [Medline]. Tanda-tanda & gejala Apa saja tanda-tanda dan gejala sindrom Klinefelter? Autoimmun Rev. [Full Text]. doi: MedlinePlus also links to health information from non-government Web sites. [Medline]. Fertility: assessment and treatment for people with fertility problems. 26 (1):58-72. Infertility specialists have to care for KS patients on a lifelong basis. [Medline]. [Medline]. Successful fertility treatment for Klinefelter's syndrome. J Clin Endocr Metabl. Review. Epub 2011 Apr 8. Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. Genetic Testing Registry: Klinefelter's syndrome, XXY, National Organization for Rare Disorders (NORD). If you log out, you will be required to enter your username and password the next time you visit. Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function. 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