Klinefelter syndrome is one of the leading causes of male infertility. RESULT. Klinefelter’s Syndrome Klinefelter syndrome is a spectrum disorder, with wide variations in presentation. 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). 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, … 16.7). 1. It is estimated that 1 in 700 to 1 in 900 live male births are affected by KS. Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. 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 Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 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. Looks like you’ve clipped this slide to already. 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. Presentation and Diagnosis of Klinefelter Syndrome. Design: ... testosterone at the time of presentation were excluded. Prenatal detection of the Klinefelter syndrome karyotype is the first of three peaks in the diagnosis. Klinefelter syndrome is the most common chromosomal disorder with prevalence of 1 in 500-640 men. You can change your ad preferences anytime. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Early recognition and hormonal treatment of the disorder can … Identify the diagnostic evaluation of a male with Klinefelter syndrome based on the clinical presentation. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. : Interceptive therapy aims to eliminate the functional interference that occurs during growth. If you continue browsing the site, you agree to the use of cookies on this website. Introduction. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Clipping is a handy way to collect important slides you want to go back to later. He presented hypogonadic features with undetectable testosterone levels and a height in accordance with mid-parental height. 1. 22 Apr. Mosaicism 47,XXY/46,XX with clinical … Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. 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 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. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. See our User Agreement and Privacy Policy. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. 54 In early life, Klinefelter may be diagnosed in boys with behavioral disorders, abnormally small testes, and long legs (Fig. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Principle Purpose of this study is to present on Klinefelter Syndrome. Klinefelter syndrome is largely undiagnosed in the general population. It is a genetic disorder that affects males. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. 2014. Most males have one Y and one X chromosome. N.p., n.d. : The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. However, Klinefelter syndrome is often overlooked or untreated. : Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. Subject: Biology Topic: Presentation. 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 - Free download as Powerpoint Presentation (.ppt / .pptx), PDF File (.pdf), Text File (.txt) or view presentation slides online. Now customize the name of a clipboard to store your clips. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … By late puberty, 30-50% of boys with Klinefelter syndrome … Works Cited Video "Adriana Osorio-CA, Real Estate Professional Service." Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. 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). Looks like you’ve clipped this slide to already. 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. Adriana OsorioCA Real Estate Professional Service. • A genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype. Discuss the management of hypogonadism and infertility in males with Klinefelter syndrome. A síndrome de Klinefelter ocorre quando uma pessoa do sexo masculino apresenta um cromossomo X a mais. Principle Purpose of this study is to present on Klinefelter Syndrome. 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. 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. -- Created using PowToon -- Free sign up at http://www.powtoon.com/youtube/ -- Create animated videos and animated presentations for free. Web. 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. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. Presentation on Klinefelter Syndrome. Presentation on Klinefelter Syndrome. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. METHODOS. 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. Several patients with both PWS and KS have been documented. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. physiology 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. This video is unavailable. 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. Return to the full CEU program. 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. Of the remaining 86, 6 (6.7%) were mosaic KS, and 80 (93.3%) were non-mosaic KS … The primary features are infertility and small poorly functioning testicles. There is a wide variability in the clinical presentation of Klinefelter’s syndrome. Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. Klinefelter syndrome with the classic 47, XXY karyotype is a common chromosomal abnormality affecting one in 500-1,000 males. Clipping is a handy way to collect important slides you want to go back to later. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Nawras Al Halabi Often, symptoms are subtle and subjects do not realize they are affected. Symptoms are often not noticed until adolescence or adulthood. Amniocentesis. Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Often, symptoms are subtle and subjects do not realize they are affected. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). 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. Recognize the variable phenotypes of Klinefelter syndrome during male infancy, puberty, and adulthood. Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Objective: To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS. Klinefelter Syndrome is a chromosomal disorder, is caused by ... Karyotype blood test. Klinefeltersyndrome(47,XXY)By Egorov Peter. He had his attention deficit disordertreated with a stable amount of long-acting methylphenidate with good response and few side effects. Watch Queue Queue. Antenatal testing. Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. It is a genetic disorder that affects males. dental college and hospital. 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. See our Privacy Policy and User Agreement for details. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. 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. He was entering his high school senior year and was doing fairly well in school with some… • 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. Early research linked KS with psychiatric disorders, criminal behavior, and mental retardation. 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 . The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. If you continue browsing the site, you agree to the use of cookies on this website. 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. Most males have one Y and one X chromosome. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in … Case note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. A Overview and Research Project on the chromosomal disorder known as Klinefelter Syndrome by Ian Layden for Ms. Brown's AP Biology class. Klinefelter syndrome is the most common sex chromosome disorder, manifested as hypogonadism, gynecomastia, and impaired spermatogenesis. 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. What is Klinefelter’s syndrome? OBJECTIVES. 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. You can change your ad preferences anytime. This results in sparse facial, body, or sexual hair; a high-pitched voice; and body fat distribution as is observed in females. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Watch Queue Queue 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. Nearly 70 years after its description, Klinefelter syndrome (KS) remains a largely undiagnosed condition. Chorionic villus sampling (CVS) ... – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 10b664-ZDc1Z Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in … It is characterized by the presence of one or more extra X chromosomes. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. It is estimated that more than 50% of men are not diagnosed and that 90% of those identified are diagnosed only post-pubertally. Klinefelter syndrome (KS) is a sex chromosome disorder and occurs due to the presence of an extra X chromosome in males (XXY). Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Now customize the name of a clipboard to store your clips. 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