In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome.Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Watch Queue Queue. Patient Presentation A 17-year-old male with known Klinefelter syndrome (KS) came to clinic for his health supervision visit. Klinefelter syndrome is one of the leading causes of male infertility. H. F. Klinefelter, E. C. Reifenstein, and F. Albright, “Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism, and increased excretion of follicle-stimulating hormone,” Journal of Clinical Endocrinology and Metabolism, … Objective: To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS. ب البشري في الجامعة السورية الخاصة. Introduction. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. Symptoms are often not noticed until adolescence or adulthood. The original clinical presentation of Klinefelter’s syndrome was described by Klinefelter’s, Reifenstein, and Albright in 1942, who reported 9 adult males with gynecomastia, small and firm testes, azoospermia, and elevation of serum FSH with functional Leydig, cells [1 1. Presentation on Klinefelter Syndrome. Recognize the variable phenotypes of Klinefelter syndrome during male infancy, puberty, and adulthood. It is characterized by the presence of one or more extra X chromosomes. It is estimated that 1 in 700 to 1 in 900 live male births are affected by KS. N.p., n.d. Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Prenatal detection of the Klinefelter syndrome karyotype is the first of three peaks in the diagnosis. Principle Purpose of this study is to present on Klinefelter Syndrome. What is Klinefelter’s syndrome? Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. If you continue browsing the site, you agree to the use of cookies on this website. Subject: Biology Topic: Presentation. You can change your ad preferences anytime. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. It occurs when a boy is born with one or more extra X chromosomes, which causes a boy to produce ... | PowerPoint PPT presentation | free to view However, Klinefelter syndrome is often overlooked or untreated. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. 2014. Klinefelter syndrome is the most common chromosomal disorder with prevalence of 1 in 500-640 men. Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Klinefelter syndrome with the classic 47, XXY karyotype is a common chromosomal abnormality affecting one in 500-1,000 males. Adriana OsorioCA Real Estate Professional Service. We report the case of a 45-year-old man who was incidentally diagnosed a 47, XXY/46,XY karyotype in a bone marrow aspiration (case 1). Klinefelter’s Syndrome - Klinefelter's syndrome is a genetic disorder that only affects males. dental college and hospital. You can change your ad preferences anytime. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. This results in sparse facial, body, or sexual hair; a high-pitched voice; and body fat distribution as is observed in females. Presentation and Diagnosis of Klinefelter Syndrome. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in … Early recognition and hormonal treatment of the disorder can … Return to the full CEU program. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. : The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. See our Privacy Policy and User Agreement for details. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. When photos or diagrams reflect only the “classic” presentation, as in this article, readers are likely to be misled and will only think of KS and further investigate when there are the “obvious” features. Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Point Highlighting in Academic Writing Part II - Rama Al Sawah, Communication with Children and Young Patients in Medicines, Prenatal Assessment of Gestational Age - Case Presentation, Point Highlighting in Academic Writing - Rama Al Sawah, Customer Code: Creating a Company Customers Love, Be A Great Product Leader (Amplify, Oct 2019), No public clipboards found for this slide, Doctor at govt. Klinefelter syndrome is largely undiagnosed in the general population. Klinefelter Syndrome is a chromosomal disorder, is caused by ... Karyotype blood test. Watch Queue Queue The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. No public clipboards found for this slide. Design: ... testosterone at the time of presentation were excluded. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Early research linked KS with psychiatric disorders, criminal behavior, and mental retardation. Of the remaining 86, 6 (6.7%) were mosaic KS, and 80 (93.3%) were non-mosaic KS … Klinefelter syndrome is one of the leading causes of male infertility. Cancer, surgery, prolonged immobilization, fractures, paralysis, use of oral contraceptives, and hereditary coagulopathies are classic risk factors for VTE. Klinefelter syndrome (KS) is the most common sex chromosome disorder (1/500 male newborn) that usually is not easily clinical perceived during childhood and curses without developmental delay, but small testicles and infertility is a frequent problem in post-pubertal age 2. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. nawras@me.com. • Frequency: roughly between 1:500 to 1:1000 live male births • 47,XXY is the most common sex chromosome aneuploidy in males and the second most common condition caused by the presence of extra chromosomes. Klinefelter’s Syndrome Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. Nawras Al Halabi : Interceptive therapy aims to eliminate the functional interference that occurs during growth. Web. Klinefelter syndrome is a spectrum disorder, with wide variations in presentation. Most males have one Y and one X chromosome. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. This video is unavailable. The primary features are infertility and small poorly functioning testicles. Now customize the name of a clipboard to store your clips. 16.7). Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. He was entering his high school senior year and was doing fairly well in school with some… RESULT. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. He had his attention deficit disordertreated with a stable amount of long-acting methylphenidate with good response and few side effects. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … Title: Klinefelter's syndrome Author: Twinz Last modified by: whames Created Date: 11/9/2011 2:22:30 AM Document presentation format: On-screen Show – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 5ee336-ZTlkO Now customize the name of a clipboard to store your clips. Klinefeltersyndrome should be suspected in postpubertal males with bilateral symmetrical small testicular volume (usually 3~4 mL in volume) with ultrasonography, usually presented by subfertility/primary infertility or assessment of small testicular size and karyotyping should be recommended 7. Discuss the management of hypogonadism and infertility in males with Klinefelter syndrome. Klinefeltersyndrome(47,XXY)By Egorov Peter. Clipping is a handy way to collect important slides you want to go back to later. Amniocentesis. Nearly 70 years after its description, Klinefelter syndrome (KS) remains a largely undiagnosed condition. 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 sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. A Overview and Research Project on the chromosomal disorder known as Klinefelter Syndrome by Ian Layden for Ms. Brown's AP Biology class. Often, symptoms are subtle and subjects do not realize they are affected. Often, symptoms are subtle and subjects do not realize they are affected. 22 Apr. It is a genetic disorder that affects males. If you continue browsing the site, you agree to the use of cookies on this website. It is estimated that more than 50% of men are not diagnosed and that 90% of those identified are diagnosed only post-pubertally. The original clinical presentation of Klinefelter’s syndrome was described by Klinefelter’s, Reifenstein, and Albright in 1942, who reported 9 adult males with gynecomastia, small and firm testes, azoospermia, and elevation of serum FSH with functional Leydig, cells . Klinefelter syndrome is the most common sex chromosome disorder, manifested as hypogonadism, gynecomastia, and impaired spermatogenesis. An increased incidence of VTE has been reported in patients with Klinefelter syndrome (KS), with a reported prevalence of 0.1-0.2% in the general population and up to 3.1% in infertile men. 54 In early life, Klinefelter may be diagnosed in boys with behavioral disorders, abnormally small testes, and long legs (Fig. OBJECTIVES. • A genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype. Looks like you’ve clipped this slide to already. Klinefelter syndrome (KS) is a sex chromosome disorder and occurs due to the presence of an extra X chromosome in males (XXY). In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. He presented hypogonadic features with undetectable testosterone levels and a height in accordance with mid-parental height. A síndrome de Klinefelter ocorre quando uma pessoa do sexo masculino apresenta um cromossomo X a mais. 1. There is a wide variability in the clinical presentation of 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 males. Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. physiology Most males have one Y and one X chromosome. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. METHODOS. : Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. Klinefelter Syndrome - Free download as Powerpoint Presentation (.ppt / .pptx), PDF File (.pdf), Text File (.txt) or view presentation slides online. Identify the diagnostic evaluation of a male with Klinefelter syndrome based on the clinical presentation. Looks like you’ve clipped this slide to already. Pode parecer pouco, mas a alteração da genética clássica desses indivíduos, que é formada por um cromossomo X e um Y, pode levar a alguns problemas mais complexos e que acompanham a pessoa por toda a vida. Mosaicism 47,XXY/46,XX with clinical … Chorionic villus sampling (CVS) ... – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 10b664-ZDc1Z See our User Agreement and Privacy Policy. Clipping is a handy way to collect important slides you want to go back to later. Principle Purpose of this study is to present on Klinefelter Syndrome. Presentation on Klinefelter Syndrome. Several patients with both PWS and KS have been documented. 1. It was first described in 1942 [].Onset of puberty is normal, but testicular failure supervenes, resulting in small firm testes, azoospermia, and a variable degree of androgen deficiency. Antenatal testing. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome.Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. XXYY syndrome; Other names: 48,XXYY Klinefelter syndrome: XXYY syndrome: XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Mosaic or mosaicism Mosaic or mosaicism donates the presence of two or morepopulations of cells with different genotypes in oneindividual who has developed from a single fertilized egg Males with Klinefelter syndrome may have a mosaic47,XXY/46,XY constitutional karyotype and varyingdegrees of spermatogenic failure. Case note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Works Cited Video "Adriana Osorio-CA, Real Estate Professional Service." Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in … It is a genetic disorder that affects males. A síndrome de Klinefelter (SK) é a anomalia de cromossomos sexuais mais comum em homens, com uma prevalência estimada de um em cada 600 homens nascidos vivos 1. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. By late puberty, 30-50% of boys with Klinefelter syndrome … We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. -- Created using PowToon -- Free sign up at http://www.powtoon.com/youtube/ -- Create animated videos and animated presentations for free. Looks like you ’ ve clipped this slide to already known Klinefelter syndrome sex,... One or more extra X chromosome clipboard to store your clips two sex chromosomes, one from presence. 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