Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Symptoms are often not noticed until adolescence or adulthood. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. 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. Identify the diagnostic evaluation of a male with Klinefelter syndrome based on the clinical presentation. He was entering his high school senior year and was doing fairly well in school with some… : Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. Watch Queue Queue. There is a wide variability in the clinical presentation of Klinefelter’s syndrome. • A genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype. 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. Klinefelter syndrome (KS) is a sex chromosome disorder and occurs due to the presence of an extra X chromosome in males (XXY). 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. nawras@me.com. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Klinefelter Syndrome is a chromosomal disorder, is caused by ... Karyotype blood test. Now customize the name of a clipboard to store your clips. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. ب البشري في الجامعة السورية الخاصة. By late puberty, 30-50% of boys with Klinefelter syndrome … 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. Early recognition and hormonal treatment of the disorder can … Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. It is a genetic disorder that affects males. Amniocentesis. Web. 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. -- Created using PowToon -- Free sign up at http://www.powtoon.com/youtube/ -- Create animated videos and animated presentations for free. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. See our Privacy Policy and User Agreement for details. Clipping is a handy way to collect important slides you want to go back to later. A síndrome de Klinefelter ocorre quando uma pessoa do sexo masculino apresenta um cromossomo X a mais. 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. 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. Klinefelter syndrome is one of the leading causes of male infertility. Most males have one Y and one X chromosome. Nawras Al Halabi Introduction. : Interceptive therapy aims to eliminate the functional interference that occurs during growth. Principle Purpose of this study is to present on Klinefelter Syndrome. Subject: Biology Topic: Presentation. 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