Klinefeltersyndrome(47,XXY)By Egorov Peter. Clipping is a handy way to collect important slides you want to go back to later. • 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. Cancer, surgery, prolonged immobilization, fractures, paralysis, use of oral contraceptives, and hereditary coagulopathies are classic risk factors for VTE. The primary features are infertility and small poorly functioning testicles. It is a genetic disorder that affects males. Watch Queue Queue This results in sparse facial, body, or sexual hair; a high-pitched voice; and body fat distribution as is observed in females. 1. 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. Most males have one Y and one X chromosome. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Klinefelter syndrome is a spectrum disorder, with wide variations in presentation. Design: ... testosterone at the time of presentation were excluded. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. Klinefelter’s Syndrome It is estimated that more than 50% of men are not diagnosed and that 90% of those identified are diagnosed only post-pubertally. Looks like you’ve clipped this slide to already. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in … 22 Apr. Recognize the variable phenotypes of Klinefelter syndrome during male infancy, puberty, and adulthood. Often, symptoms are subtle and subjects do not realize they are affected. 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. Discuss the management of hypogonadism and infertility in males with Klinefelter syndrome. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Return to the full CEU program. 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. Early recognition and hormonal treatment of the disorder can … physiology Of the remaining 86, 6 (6.7%) were mosaic KS, and 80 (93.3%) were non-mosaic KS … Objective: To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS. 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 … 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. There is a wide variability in the clinical presentation of Klinefelter’s syndrome. If you continue browsing the site, you agree to the use of cookies on this website. Klinefelter syndrome is one of the leading causes of male infertility.