Klienefelterin syndrooma

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. Acta Paediatr. 2011 Jun. 100(6):851-60. [Medline]. [Full Text]. Journal of Clinical Endocrinology & Metabolism: “Klinefelter Syndrome: A Clinical Update.”JOURNAL ARTICLES Samango-Sprouse, C; Hall, MP; Kırkızlar, E; Curnow, K; Demko, Z; Lawson, P; Gross,S; Gropman, A. Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population. Public Library of Science. Plos ONE. 2016; April 11(8), 1-11. doi:10.1371/journal.pone.0161045. ↑ Klinefelter H. F. Klinefelter syndrome: historical background and ↑ Аbramsky L., Chapple J. 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis.. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Klinefelter syndrome - Genetics Home Reference - NI

Klinefelter's syndrome often goes undiagnosed in affected males. Many with known Klinefelter's syndrome are not diagnosed until they are adults.[1]. Presentation. This can be variable and often.. Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959 Jan 31. 183(4657):302-3. [Medline]. Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. If Klinefelter syndrome is not diagnosed prenatally, a patient with 47..

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. Clin Endocrinol (Oxf). 2006 Jul. 65(1):92-7. [Medline]. Deebel NA, Galdon G, Zarandi NP, et al. Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis. Hum Reprod Update. 2020 Jan 1. 26 (1):58-72. [Medline].

Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. Pediatrics. 1988 Jun. 81 (6):795-806. [Medline]. Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Genital anomalies in Klinefelter's syndrome. Horm Res. 2007. 68(3):150-5. [Medline]. 47, XXY (KS) is the most common human sex chromosome disorder and occurs in approximately 1 in 500-1,000 males. It is estimated that 3,000 affected boys are born each year in the United States.Skakkebaek A, Moore PJ, Chang S, Fedder J, Gravholt CH. Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function. Genet Med. 2018 Feb. 20 (2):214-22. [Medline].

Some men show symptoms of Klinefelter as children, but others don’t know they have it until puberty or adulthood. Many men never realize that they have it because symptoms aren���t always present. Nephrotic syndrome classically presents with heavy proteinuria, minimal hematuria, hypoalbuminemia, hypercholesterolemia, edema, and hypertension. In general, all patients with hypercholesterolemia..

Klinefelter Syndrome. NORD gratefully acknowledges Dr. Carole Samango-Sprouse, Associate Clinical Professor in the Department of Pediatrics at George Washington University and Adjunct.. Klinefelter's is a genetic variation that makes some guys (like me) anatomically male, but genetically (As I keep getting kindly but incorrect edit suggestions I will just clarify: Klinefelter's Syndrome only.. Klinefelter syndrome is a chromosomal variation in boys and men that can affect physical and intellectual development. Its signs and symptoms vary among affected individuals A multidisciplinary team approach can assist in improving speech impairments, academic difficulties, and other psychosocial and behavioral problems.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. [9] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns.

Синдром Клайнфельтера — Википеди

Staessen C, Coonen E, Van Assche E, et al. Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. Hum Reprod. 1996 Aug. 11(8):1650-3. [Medline]. [Full Text]. Klinefelter Syndrome. Kristin Clemens PGY 5 Endocrine Rounds January 30, 2013. Case. 20 year old male Presents to new family doctor for physical. No known medical conditions Inguinal hernia repair.. Klinefelter синдромы — хромосомалық патология, бір немесе бірнеше әйелдердің жыныстық Klinefelter синдромы негізгі гипогонадизммен сипатталады, кішкентай өлшемді сынықтары.. Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of PediatricsDisclosure: Nothing to disclose.

While there is no cure for sex chromosome changes caused by Klinefelter syndrome, treatments can help minimize effects, especially when they're started early. Treatment may include the following.Hong DS, Reiss AL. Cognitive and neurological aspects of sex chromosome aneuploidies. Lancet Neurol. 2014 Mar. 13(3):306-18. [Medline].

Home Klinefelter Syndrome + X and Y variation

  1. 47, XXY (KS) is not inherited. Males with 47, XXY (KS) have one extra X chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm. Some males with 47, XXY (KS) are mosaic, meaning that some cells have an extra X chromosome and other cells do not. Mosaic 47, XXY (KS) occurs because of an error in the division of the sex chromosomes in the zygote after fertilization. The extra X chromosome typically results in primary testicular failure leading to androgen deficiency.
  2. Klinefelter's syndrome is a genetic disorder characterized by the presence of an additional X chromosome in almost all of the cells in the body. Thus, males with Klinefelter's syndrome have an..
  3. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a genetic condition affecting males, and it often isn't..
  4. U.S. National Library of Medicine: National Institute of Child Health and Human Development. What are the treatments for symptoms in Klinefelter syndrome (KS)? Updated December 1, 2016
  5. Damani MN, Mittal R, Oates RD. Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility. Fertil Steril. 2001 Nov. 76(5):1054-6. [Medline].

Klinefelter Syndrome: Symptoms, Causes, Diagnosis, and Treatmen

Samango-Sprouse CA. Expansion of the phenotypic profile of the young child with XXY. Pediatr Endocrinol Rev. 2010;8 Suppl 1:160-8.Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995;96(4 Pt 1):672-82.Rovenský J. Rheumatic diseases and Klinefelter's syndrome. Autoimmun Rev. 2006 Nov. 6(1):33-6. [Medline]. Klinefelter Syndrome (n.) 1.(MeSH)A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of.. Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. Epidemiology The estimated incidence is 0.15-0.2% of live births

Klinefelter Syndrome often referred to as XXY trisomy, XXY syndrome, and Klinefelter's Syndrome is a chromosomal disorder exclusively associated with males having one or more of the X.. Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. These hormones are given to promote the development of secondary male sexual characteristics (virilization) and alleviate feminization effects that have occurred due to insufficient testosterone levels. Hormone replacement therapy is effective when initiated during early infancy or around pubertal development or even later in life. Some men with 47, XXY (KS) who have gynecomastia may require surgical breast reduction for cosmetic purposes. This procedure often may be avoided if proper and timely dosage of testosterone is administered to an individual, although it varies with each individual.Men with Klinefelter usually don’t know they have it until they run into problems trying to have a child. There’s no cure, but it can be treated.Klinefelter syndrome occurs as the result of a random genetic error during the formation of the egg or sperm or after conception.

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. Mol Hum Reprod. 2007 Oct. 13 (10):745-50. [Medline]. Klinefelter syndromeOther namesXXY syndrome, Klinefelter's syndrome Klinefelter syndrome (KS), also known as 47, XXY is the set of symptoms that result from two or more X chromosomes in.. Klinefelter's syndrome is a condition caused by a chromosomal abnormality in males; sufferers These triploid genes in XXY males may be responsible for the symptoms of Klinefelter's syndrome 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. Dev Disabil Res Rev. 2009. 15(4):284-94. [Medline]. Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center 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.

Tournaye H, Staessen C, Liebaers I, et al. Testicular sperm recovery in nine 47,XXY Klinefelter patients. Hum Reprod. 1996 Aug. 11(8):1644-9. [Medline]. [Full Text].Klinefelter syndrome is not directly inherited – the additional X chromosome occurs as a result of either the mother's egg or the father's sperm having the extra X chromosome (an equal chance of this happening in either), so after conception the chromosome pattern is XXY rather than XY. Klinefelter syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division that happens when a parent's reproductive cells are being formed

Klinefelter's Syndrome Home

Campbell WA, Price WH. Venous thromboembolic disease in Klinefelter's syndrome. Clin Genet. 1981 Apr. 19(4):275-80. [Medline]. Kleczkowska A, Fryns JP, Van den Berghe H. X-chromosome polysomy in the male. The Leuven experience 1966-1987. Hum Genet. 1988;80(1):16-22.NORD gratefully acknowledges Dr. Carole Samango-Sprouse, Associate Clinical Professor in the Department of Pediatrics at George Washington University and Adjunct Associate Professor in the Department of Human and Molecular Genetics at Florida International University, for assistance in the preparation of this report.

Klinefelter syndrome - NH

  1. Wosnitzer, M S and Paduch, D A., Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome. Am. J. Med. Genet. 2013;163: 16–26.
  2. Nieschlag E, Ferlin A, Gravholt CH, et al. The Klinefelter syndrome: current management and research challenges. Andrology. 2016 May. 4 (3):545-9. [Medline].
  3. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary.
  4. Klinefelter syndrome at Wikipedia. Categories: Stubs. Diseases. Genetics. Community content is available under CC-BY-SA unless otherwise noted
  5. Samango-Sprouse CA, Gropman AL, Sadeghin T, et al. Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome. Acta Paediatr. 2011;100(6):861-5.
  6. Infertility in men with Klinefelter syndrome opens up emotional, ethical, and moral concerns for couples which were not present before the advent of in vitro fertilization. Talking with a genetic counselor so that you understand the risks, as well as the options to test prior to implantation, is critical for anyone considering these treatments. 

Although most men with Klinefelter syndrome produce little or no sperm, reproductive procedures may make it possible for some men with the condition to father children.TRT involves taking medicines containing testosterone. It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men.Aguirre D, Nieto K, Lazos M, et al. Extragonadal germ cell tumors are often associated with Klinefelter syndrome. Hum Pathol. 2006 Apr. 37(4):477-80. [Medline]. Bender BG, Puck MH, Salbenblatt JA, Robinson A. Dyslexia in 47, XXXY boys identified at birth. Behavior genetics. 1986 May 1;16(3):343-54.Thomas NS, Hassold TJ. Aberrant recombination and the origin of Klinefelter syndrome. Hum Reprod Update. 2003 Jul-Aug. 9(4):309-17. [Medline]. [Full Text].

Tietze Syndrome - Symptoms, Causes, Diagnosis, Treatment, Prevention and Pictures. This is a condition that involves inflammation of the chest area or simply the cartilage Le syndrome de Klinefelter n'existe que chez les filles. The Klinefelter syndrome is found only in C'est une anomalie appelée syndrome de Klinefelter. Well, it's a condition called Klinefelter's.. Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. Clin Pediatr (Phila). 2001 Dec. 40(12):639-51. [Medline]. Klinefelter syndrome , also known as 47, XXY is the set of symptoms that result from two or more X For faster navigation, this Iframe is preloading the Wikiwand page for Klinefelter syndrome The Klinefelter syndrome was first described in 1942 [1]. It affects approximately 1 / 600 men and thus belongs to the most frequently occurring genetic syndromes

Klinefelter Syndrome: Practice Essentials, Pathophysiology

Klinefelter Syndrome - NORD (National Organization for Rare

Klinefelter Syndrome: Symptoms, Genetics, and Treatmen

  1. A study by Close et al reported that in boys with Klinefelter syndrome, the degree of phenotypic abnormality is tied to the risk for impaired quality of life. Linear regression analysis indicated that phenotype accounted for 22% of the variance in quality of life among the 43 boys in the study. [14]
  2. Lahlou N, Fennoy I, Ross JL, Bouvattier C, Roger M. Clinical and hormonal status of infants with nonmosaic XXY karyotype. Acta Paediatr. 2011 Jun. 100 (6):824-9. [Medline].
  3. Hormone testing: This can be done through blood or urine samples and can detect if abnormal sex hormone levels — a sign of Klinefelter syndrome — are present.

This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual.Swerdlow AJ, Higgins CD, Schoemaker MJ, et al. Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J Clin Endocrinol Metab. 2005;90(12):6516-22.Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN. Successful fertility treatment for Klinefelter's syndrome. J Urol. 2009 Sep. 182(3):1108-13. [Medline]. Samango‐Sprouse C, Stapleton EJ, Lawson P, Mitchell F, Sadeghin T, Powell S, Gropman AL. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47, XXY. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2015 Jun 1 (Vol. 169, No. 2, pp. 150-157.

Men's Health Resources

2. • Klinefelter syndrome or Klinefelter's syndrome is the set of symptoms resulting from additional X genetic material in males. Also known as 47,XXY or XXY, Klinefelter syndrome is a genetic disorder.. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. 2007 Apr. 4(4):192-204. [Medline]. One example is Down's syndrome, caused by trisomy 21. Another example is Klinefelter syndrome, where XY males have an additional X chromosome Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner's syndrome. While KS individuals have an extra X chromosome making the total number of chromosomes 47 in number.. Men with Klinefelter syndrome produce little or no sperm production. The syndrome was named after Harry Klinefelter, who, in 1942, worked with Fuller Albright and E. C. Reifenstein at..

Klinefelter Syndrome: Causes, Symptoms Everyday Healt

Klinefelter syndrome can affect both physical and cognitive development. According to the National Human Genome Research Institute, Klinefelter syndrome is found in about 1 out of every 500 to 1.. Tachdjian G, Frydman N, Morichon-Delvallez N, et al. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. Hum Reprod. 2003 Feb. 18(2):271-5. [Medline]. [Full Text].Paduch DA, Bolyakov A, Cohen P, Travis A. Reproduction in men with Klinefelter syndrome: the past, the present, and the future. Semin Reprod Med. 2009 Mar. 27(2):137-48. [Medline]. Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab. 2005 Nov. 90 (11):6263-7. [Medline]. As noted above, fertility may be possible by surgically withdrawing sperm from the testes, and then using in vitro fertilization. Although there has been concern with the possible effects of abnormal sperm, more recent studies have shown this risk is not as high as previously thought.

Palermo GD, Schlegel PN, Sills ES, et al. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. N Engl J Med. 1998 Feb 26. 338(9):588-90. [Medline]. These problems can usually be treated if they do occur and testosterone replacement therapy may help reduce the risk of some of them. «Klinefelter syndrome: historical background and development». South Med J 79 (9): 1089-1093. doi «Klinefelter Syndrome - Treatment». medscape.com. Retrieved 4 September 2012 Some thoughts on Klinefelter's syndrome - The whole thing is complicated. Klinefelter's does seem to increase the chance of developing gender dysphoria, although it is still a very small chance Klinefelter Syndrome (Klinefelters Syndrome): Read more about Symptoms, Diagnosis Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and..

Klinefelter syndrome - causes, symptoms, diagnosis, treatment

Many people are familiar with Down syndrome. Down syndrome is a trisomy in which there are three 21st chromosomes. The arrangement would be 47XY (+21) or 47XX (+21) depending on whether the child was male or female. Using stimulatory methods, such as gonadotropic or androgenic stimulation as is done for some types of male infertility does not work due to the lack of development of the testes in males with Klinefelter syndrome.

Klinefelter syndrome. Back. This article waslast modified on July 10, 2017 Get Klinefelter Syndrome essential facts below. Add Klinefelter Syndrome to your PopFlock.com topic list for future reference or share this resource on social media 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. Hum Reprod. 1998 Jan. 13(1):124-7. [Medline]. [Full Text].

Klinefelter Syndrome: Causes, Symptoms, Diagnosis & Treatment

Sera laboratory results of a typical male with Klinefelter syndrome demonstrate low to low-normal testosterone levels, high luteinizing hormone (LH) and FSH levels, and, often, elevated estradiol levels. Decline of testosterone production progresses over the patient's life span, but not all male patients have hypogonadism. [13]  It is unclear if the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or is due to abnormal function of X chromosome–linked genes. [6] Giedd JN, Clasen LS, Wallace GL, et al. XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study. Pediatrics. 2007 Jan. 119(1):e232-40. [Medline]. [Full Text].

Klinefelter syndrome: Klinefelter syndrome occurs only in men and is defined classically by a 47, XXY karyotype instead of the usual male sex complement (genotype xy) Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a XXY sex chromosome karyotype. The extra X chromosome can affect physical, developmental, behavioral, and cognitive functioning. Common physical features may include tall stature, reduced muscle tone, small testes (hypogonadism), delayed pubertal development and lack of secondary male sex characteristics such as decreased facial and body hair and increased breast growth (gynecomastia) in late puberty. Common cognitive and behavioral features may include speech and language delays, ADHD, and emotional and social functioning challenges. The features of 47, XXY (KS) are typically associated with decreased testosterone level and elevated gonadotropin levels. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X Klinefelter syndrome can also delay speech and language development in male children

Chromosomal analysis: Also called karyotype, this involves drawing a small sample of blood, which is sent to a lab to check the shape and number of chromosomes.Skakkebaek A, Moore PJ, Pedersen AD, et al. The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome. Brain Behav. 2017 Mar. 7 (3):e00645. [Medline]. [Full Text].Testosterone replacement therapy: Since males with Klinefelter syndrome don't produce enough testosterone, undergoing testosterone replacement therapy at the onset of puberty can allow a boy to undergo the body changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and penis size.A Danish survey report, by Skakkebæk et al, indicated that persons with Klinefelter syndrome tend to have reduced mental and physical quality of life, caused directly by Klinefelter syndrome and indirectly by factors that, compared with controls, include lower levels of income, physical activity, and sexual function. [15] Cancer incidence in men with Klinefelter syndrome. Br J Cancer 1995;71(2):416-20. Osteoporosis and Klinefelter syndrome. Clin Endocrynol 1992;36:113-18

Klinefelter Syndrome: Incidence, Outlook, and Mor

Klinefelter syndrome. 190 likes · 3 talking about this. (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X... See more of Klinefelter syndrome on Facebook See your GP if you have concerns about your son's development or you notice any troubling symptoms of Klinefelter syndrome in yourself or your son.

Klinefelter's syndrome definition is - an abnormal condition in a male characterized by usually two X and one Y chromosomes, infertility, smallness of the testicles, sparse facial and body hair.. The X chromosome is not a "female" chromosome and is present in everyone. The presence of a Y chromosome denotes male sex. Testosterone replacement therapy throughout your life can help prevent some of the long-term problems that come with Klinefelter. Meaning of Klinefelter syndrome medical term. What does Klinefelter syndrome mean? Klinefelter syndrome is a chromosomal disorder that affects only males Samango-Sprouse C, Stapleton EJ, Lawson P, et al. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Am J Med Genet C Semin Med Genet. 2015 Jun. 169 (2):150-7. [Medline].

Men with Klinefelter's syndrome have testosterone levels that are significantly lower (−260 ng/dL difference), estradiol levels that are slightly higher (+6.8 pg/mL) though not significantly different when.. Speech and language therapy, physical therapy and occupational therapy are often helpful for boys with 47, XXY (KS). These interventions are shown to significantly improve academic, physical, cognitive, and social outcomes in boys with 47, XXY (KS). A comprehensive psychoeducational evaluation is recommended to determine what resources may be helpful in the classroom. Social skills training classes can also be beneficial.But men with Klinefelter syndrome are at a slightly increased risk of developing other health problems, including:Sokol RZ. It's not all about the testes: medical issues in Klinefelter patients. Fertil Steril. 2012 Aug. 98(2):261-5. [Medline]. Today, the term Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. [3] It is also the most common chromosomal disorder associated with male hypogonadism and infertility. 

Klinefelter syndrome — Wikipedia Republished // WIKI

Klinefelter Syndrome Showing Most of the Characteristics. According to epidemiological reports, the condition affects about 1 out of 1,000 of born male in the United States Men with 47, XXY (KS) may have an increased risk for endocrine conditions such as diabetes mellitus, hypothyroidism and hypoparathyroidism and autoimmune diseases such as systemic lupus erythematosus, Sjogren syndrome and rheumatoid arthritis. Felty's syndrome diagnosis issue and its formulation problem. Yu.V. Muraviev. V.A. Nasonova Research Institute of Rheumatology, Moscow Klinefelter sendromu, erkekleri etkileyen genetik bir hastalıktır. Klinefelter sendromu, bir çocuk bir veya daha fazla ekstra X kromozomu ile doğduğunda oluşur. Çoğu erkeğin bir Y ve bir X kromozomu.. It's thought that Klinefelter syndrome is underdiagnosed, with an estimate that only 25 percent of men with the syndrome receiving a diagnosis (since it is often diagnosed during an infertility examination.) This may initially not seem to be a problem, but many men who are suffering from the signs and symptoms of the condition could be treated, improving their quality of life. Making a diagnosis is important as well with regard to screening and careful management of medical conditions for which these men are at an increased risk.

Men with Klinefelter syndrome tend to have more than the average number of chronic health conditions and a shorter life expectancy than men who do not have the syndrome. That said, it's important to note that treatments such as testosterone replacement are being studied which may change these "statistics" in the future. Some conditions which are more common in men with Klinefelter syndrome include: Most boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives.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. Clin Endocrinol (Oxf). 2006;65(1):92-7.Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42.

Klinefelter syndrome is a genetic abnormality that affects only males. Named after the American physician Harry Klinefelter in 1942, Klinefelter syndrome affects approximately one in 500 newborn males, making it a very common genetic abnormality. Evans JA, de von Flindt R, Greenberg C, Ramsay S, Hamerton JL. A cytogenetic survey of 14,069 newborn infants. IV. Further follow-up on the children with sex chromosome anomalies. Birth defects original article series. 1981 Dec;18(4):169-84. Klinefelter syndrome is characterized by an abnormality in the chromosomes or genetic material which make up our DNA.

Klinefelter Syndrome Encyclopedia

National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 • (203)744-0100 Klinefelter syndrome is a trisomy of the sex chromsomes. Most commonly (around 82 percent of the time) there is an extra X chromosome (an XXY arrangment.) Crüger D, Toft B, Agerholm I, Fedder J, Hald F, Bruun-Petersen G. Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome. Hum Reprod. 2001 Sep. 16(9):1909-11. [Medline]. [Full Text].Calogero AE, Giagulli VA, Mongioì LM, et al; Klinefelter ItaliaN Group (KING). Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders. J Endocrinol Invest. 2017;40(7):705-712. doi:10.1007/s40618-017-0619-9

Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of.. Boks MP, de Vette MH, Sommer IE, et al. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Schizophr Res. 2007 Jul. 93(1-3):399-402. [Medline]. The effects of Klinefelter syndrome vary from person to person, and signs and symptoms of the syndrome can appear differently at different ages.Herlihy AS, McLachlan RI, Gillam L, Cock ML, Collins V, Halliday JL. The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genet Med. 2011 Jul. 13 (7):632-42. [Medline].

a place to talk about klinefelter syndrome

Ordinarily we have 46 chromosomes, 23 from our mothers and 23 from our father. Of these, 44 are autosomes and 2 are sex chromosomes. A person's sex is determined by the X and Y chromosomes with males having one X and one Y chromosome (an XY arrangement) and females having two X chromosomes (an XX arrangement.) In males, the Y chromosome comes from the father and either an X or Y chromosome comes from the mother. If you suspect that you or your son may have Klinefelter syndrome, your doctor will examine your (or your son's) genital area and chest, as well as conduct tests to check reflexes and mental functioning.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 Clin Endocrinol Metab. 2004 Dec. 89(12):6208-17. [Medline]. Genetic and Rare Diseases Information Center: “Are people with Klinefelter syndrome able to have children?” “What is Klinefelter syndrome?”Klinefelter syndrome is characterized by hypogonadism (micro-orchidism [small testes], oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioral concerns.

Long-term treatment during adulthood may also help with several other problems associated with Klinefelter syndrome – including osteoporosis, low mood, reduced sex drive, low self-esteem and low energy levels – although it cannot reverse infertility. Klinefelter syndrome is a congenital condition in which males are born with one or more extra X chromosomes. Klinefelter syndrome is common, affecting one in every 500 Australian men But the risk of a woman having a son with Klinefelter syndrome may be slightly higher if the mother is over 35 years of age.Hinney B, Guttenbach M, Schmid M, Engel W, Michelmann HW. Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype. Fertil Steril. 1997 Oct. 68(4):718-20. [Medline].

Early identification and anticipatory guidance are extremely helpful in Klinefelter syndrome. Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. Androgen (testosterone) replacement therapy is an important aspect of treatment.Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs that would prompt diagnostic testing. Karyotype analysis on peripheral blood lymphocytes, the XCAT-KS buccal swab test, fluorescence in-situ hybridization (FISH), and microarrays are options for postnatal diagnostic testing. Many men can live with an extra X chromosome and experience no symptoms. In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome.

Zöller B, Ji J, Sundquist J, Sundquist K. High Risk of Venous Thromboembolism in Klinefelter Syndrome. J Am Heart Assoc. 2016 May 20. 5 (5):[Medline]. Boys and men with Klinefelter syndrome are still genetically male, and often will not realise they have this extra chromosome, but occasionally it can cause problems that may require treatment.Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.Samango-Sprouse C, Keen C, Sadeghin T, Gropman A. The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). Prenat Diagn. 2017 May. 37 (5):497-501. [Medline]. [Full Text].

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. Fertil Steril. 2000 Oct. 74(4):832-3. [Medline]. Klinefelter's syndrome (Q207133). From Wikidata. Jump to navigation Jump to search. Human disease. Klinefelter syndrome. Hypogonadotropic Hypogonadism Bonduelle M, Aytoz A, Van Assche E, Devroey P, Liebars I, VanSteirteghem A. Incidence of chromosomal aberrations in childrenborn after assisted reproduction through intracytoplasmic sperm injection. Hum Reprod. 1998. 13:781-782. [Medline]. [Full Text].Klinefelter syndrome is often undiagnosed in young males. Diagnosis frequently occurs in adulthood; however about 75% of sex chromosome aneuploidies are never diagnosed. For suspected 47,XXY males, common indicators for karyotype analysis on peripheral blood are hypogonadism and infertility.Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil Steril. 2004;82(4):775-9.

Moreover, mental capacity diminishes with additional X chromosomes. 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. All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material.Salzano A, Arcopinto M, Marra AM, et al. Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives. Eur J Endocrinol. 2016 Jul. 175 (1):R27-40. [Medline]. [Full Text].

Mantovani V, Dondi E, Larizza D, et al. Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?. Eur J Hum Genet. 2002 Feb. 10(2):137-40. [Medline]. The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. It's important to note again that while Klinefelter is a genetic syndrome, it is not usually "inherited" and therefore does not "run in families." Instead, it is caused by a random accident during the formation of the egg or the sperm, or shortly after conception occurs. An exception may be when sperm from a man with Klinefelter syndrome are used for in vitro fertilization (see below.)

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