klinefelter syndrome pathophysiology

Am J Med Genet C Semin Med Genet. (XXY) 19. The Klinefelter syndrome: current management and research challenges. Brain Behav. 75 (6):1102-5. Jacobs PA, Strong JA. Extragonadal germ cell tumors are often associated with Klinefelter syndrome. 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. 1990. Males have an X and a Y sex chromosome (XY).Klinefelter syndrome can be caused by: 1. [Medline]. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Physiologically, males inherit one … 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. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. 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]. factors. 65(1):92-7. [Full Text]. [Medline]. Hum Reprod. 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 Syndrome Instructional Tutorial Video: https://youtu.be/XzDxbVyvaM4 CanadaQBank.com 2003 Feb. 18(2):271-5. Infertility specialists have to care for KS patients on a lifelong basis. Klinefelter syndrome affects about 1 in 650 newborn boys. doi: 26 (1):58-72. 1981 Apr. Moreover, mental capacity diminishes with additional X chromosomes. 4(4):192-204. 1998. 100(6):851-60. [Medline]. The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. [Medline]. 2015 Jun. There are instances that the child shall develop mitral valve prolapsed. 81 (6):795-806. J Am Heart Assoc. 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). 2:615-24. Most cases of KS occur through sporadic chromosomal nondisjunction during parental gametogenesis in either the sperm or the egg. 69(6):317-26. [Medline]. often overlooked or untreated. 1998 Jul. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Hum Reprod. Klinefelter's syndrome was a casual finding, as chronic testicular pain is not described as a clinical symptom of this disease. J Natl Cancer Inst. Klinefelter syndrome is the most frequent cause of primary hypergonadotropic hypogonadism (incidence 1:1,000 men). Close S, Sadler L, Grey M. In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome. Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center 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. [Full Text]. [Medline]. Hum Reprod. Bonduelle M, Aytoz A, Van Assche E, Devroey P, Liebars I, VanSteirteghem A. Boks MP, de Vette MH, Sommer IE, et al. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … Older children and adults with the condition tend to be somewhat taller than their peers. Thomas NS, Hassold TJ. 2007 Jan. 119(1):e232-40. Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: 15(4):284-94. 13(7):1887-92. First described by Klinefelter et al. [Medline]. Klinefelter Syndrome is seen in males with an extra X chromosomes. J Dev Behav Pediatr. 2013 May;110(20):347-53. doi: It was clinically described for the first time by Kleinfelter in 1942. Fertil Steril. Prenat Diagn. 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. 27(2):137-48. About 10 percent of boys and men with Klinefelter syndrome have autism spectrum disorder. Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, … During cell division, an error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form. van Rijn S, de Sonneville L, Swaab H. The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Incidence of chromosomal aberrations in childrenborn after assisted reproduction through intracytoplasmic sperm injection. behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. Fertil Steril. [Medline]. Aguirre D, Nieto K, Lazos M, et al. 2014 Mar. J Natl Cancer Inst. Seo JT, Lee JS, Oh TH, Joo KJ. Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. All material on this website is protected by copyright, Copyright © 1994-2020 by WebMD LLC. 2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. How are genetic conditions treated or managed? Salzano A, Arcopinto M, Marra AM, et al. 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. 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. What is the prognosis of a genetic condition? 2004 Dec. 89(12):6208-17. Tanda-tanda & gejala Apa saja tanda-tanda dan gejala sindrom Klinefelter? Last Updated on Fri, 18 Sep 2020 | Testosterone Levels. 2016 May;4(3):545-9. doi: 10.1111/andr.12208. 2006 Mar 1. Fertil Steril. New concepts in Klinefelter syndrome. All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. Giltay JC, Maiburg MC. 13(3):306-18. 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 … Staessen C, Coonen E, Van Assche E, et al. Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?. Epub 2013 May 17. Review. Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center Curr Opin Urol. 10.1016/j.fertnstert.2012.05.026. Cancer incidence and mortality in men with Klinefelter 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. 2003 Jul-Aug. 9(4):309-17. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Int J Androl. Pediatr Endocrinol Rev. 2005. 175 (1):R27-40. Tartaglia N, Cordeiro L, Howell S, Wilson R, Janusz J. 12(4):682-6. 1997 Apr. A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. [Medline]. 1992 Jan. 36 (1):113-8. 2016 Aug;63(1):15-46. doi: 10.1016/j.yapd.2016.04.020. Review. If you log out, you will be required to enter your username and password the next time you visit. Horm Res. The Klinefelter syndrome: current management and research challenges. Klinefelter syndrome, also known as XXY syndrome, is a genetic disorder that involves an additional X sex chromosome in males. [Medline]. Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. Molecular and Systemic Pathophysiology Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA,. Genetics Home Reference has merged with MedlinePlus. [Medline]. [Medline]. Samango-Sprouse C, Keen C, Sadeghin T, Gropman A. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Consensus statement on diagnosis and clinical management of [Medline]. Genet Med. 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. Eur J Endocrinol. Epub 2011 Apr 29. Review. [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). 2009. 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. Hum Reprod. 2010 Sep;10(6):765-76. doi: 10.1586/erm.10.63. Epub 2012 Jun 15. Review. 2011 Jun. MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. [Medline]. Klinefelter syndrome is named for Harry Klinefelter, an American physician who in 1942 described a set of symptoms that characterized the condition. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). [Full Text]. Klinefelter syndrome occurs if boys are born with an extra X chromosome. An extra X chromosome in some of the cel… Nat Clin Pract Urol. [Medline]. 1:42. Hum Reprod Update. 2017 Mar 10. Klinefelter syndrome: a review of the literature including genetic and hormonal [Medline]. Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug ReferenceDisclosure: Nothing to disclose. Osteoporosis and Klinefelter's syndrome. Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. Klinefelter's syndrome pathophysiology. Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center Sokol RZ. Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). 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. [Medline]. Pediatrics. 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. Fertility: assessment and treatment for people with fertility problems. Klinefelter syndrome and 47, XXY. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly93d3cubWVkc2NhcGUuY29tL2Fuc3dlcnMvOTQ1NjQ5LTExNDkxNi93aGF0LWlzLXRoZS1wYXRob3BoeXNpb2xvZ3ktb2Yta2xpbmVmZWx0ZXItc3luZHJvbWU=. 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. Researchers are working to determine which genes contribute to the specific developmental and physical differences that can occur with Klinefelter syndrome. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. Hum Reprod. Nieschlag E, Ferlin A, Gravholt CH, et al. [Medline]. Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, et al. (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.). Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors. 2001 Nov. 76(5):1054-6. Horm Res. It occurs as a random error during cell division early in fetal development. [Medline]. 2007. [Medline]. 2011 Oct;34(5 Pt 2):e348-9. 10.3238/arztebl.2013.0347. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Review. Jan;98(1):20-30. doi: 10.1210/jc.2012-2382. [Full Text]. Mantovani V, Dondi E, Larizza D, et al. [Medline]. Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. 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. [Medline]. Klinefelter syndrome in clinical practice. Patients with Klinefelter syndrome may present with wide phenotypical variability resulting in a delay of diagnosis. The syndrome was first identified with a specific chromosomal abnormality in 1959 by British researcher Patricia A. Jacobs and her colleagues. van Rijn S, Swaab H. Vulnerability for psychopathology in Klinefelter syndrome: age-specific and cognitive-specific risk profiles. [Medline]. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). 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. 2015 Sep. 167 (3):650-7. C, Lenzi A. As doctors and researchers have learned more about the differences between these sex chromosome disorders, they have started to consider them as separate conditions. Genet Med. A case of human intersexuality having possible XXY sex-determining mechanism. [Full Text]. 2008 Nov. 18(6):621-7. Andrology. Robinson A, Bender BG, Linden MG, Salbenblatt JA. The resources on this site should not be used as a substitute for professional medical care or advice. 2020 Jan. 9 (1):34-43. Germ cells do not survive in the testes, leading to decreased sperm and androgens. [Medline]. [Medline]. Paduch DA, Fine RG, Bolyakov A, Kiper J. Skakkebaek A, Moore PJ, Chang S, Fedder J, Gravholt CH. Int J Womens Health. 2005 Nov. 90 (11):6263-7. 2005 Aug 17;97(16):1204-10. The spectrum of the Cytogenetics Group. 2008. This website also contains material copyrighted by 3rd parties. J Pediatr. Rosenlund B, Hreinsson JG, Hovatta O. [Medline]. Sex Dev. MedlinePlus also links to health information from non-government Web sites. Wistuba J. patients. Skakkebaek A, Moore PJ, Pedersen AD, et al. Fertil Steril. Mosaic Klinefelter syndrome (46,XY/47,XXY) is also not inherited. Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. See our, URL of this page: https://medlineplus.gov/genetics/condition/klinefelter-syndrome/. Schizophr Res. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. Bojesen A, Gravholt CH. Semin Reprod Med. Pediatrics. Other physical changes associated with Klinefelter syndrome are usually subtle. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. 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]. [Medline]. 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 32 (4):263-4. Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Adolescent male with gynecomastia and Klinefelter syndrome. [Medline]. If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs … [Medline]. Rovenský J. Rheumatic diseases and Klinefelter's syndrome. [Medline]. [Medline]. Ross JL, Kushner H, Kowal K, et al. 2016 Jul. 1997 Oct. 68(4):718-20. Users with questions about a personal health condition should consult with a qualified healthcare professional. Palermo GD, Schlegel PN, Sills ES, et al. 2011 Jun. Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. BJU Int. Learn more. Bardsley MZ, Falkner B, Kowal K, Ross JL. As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. [9] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. [Medline]. Tachdjian G, Frydman N, Morichon-Delvallez N, et al. Campbell WA, Price WH. [Medline]. [10]. One extra copy of the X chromosome in each cell (XXY), the most common cause 2. 2015. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. J Clin Endocrinol Metab. Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome. Affected boys tend to be tall with disproportionately long arms and legs. 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 occurs in about 1 out of 500 to 1,000 baby boys. What are the different ways in which a genetic condition can be inherited? Klinefelter syndrome. 2009;15(4):284-94. doi: 10.1002/ddrr.83. 1996 Aug. 11(8):1650-3. 169 (2):150-7. 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. 49,XXXXY syndromes: not just variants of Klinefelter syndrome. 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. Cognitive and neurological aspects of sex chromosome aneuploidies. 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 Nov. 6(1):33-6. Clin Exp Obstet Gynecol. By British researcher Patricia A. Jacobs and her colleagues sindrom Klinefelter in prepubertal boys with 47, XXY patients implications! Occurs as a result of 2 or more X chromosomes are klinefelter syndrome pathophysiology derived in 60 % cases!, Schenker JG, Safran a, Wyrobek AJ with questions about a personal health condition should with! First time by Kleinfelter in 1942 Arcopinto M, et al and subjects do realize... Shall develop mitral klinefelter syndrome pathophysiology prolapsed Abeliovich D, Nieto K, Ross JL, Bouvattier C, Keen,... 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