klinefelter syndrome presentation

: Interceptive therapy aims to eliminate the functional interference that occurs during growth. Klinefelter syndrome is largely undiagnosed in the general population. The primary features are infertility and small poorly functioning testicles. Principle Purpose of this study is to present on Klinefelter Syndrome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. The primary features are infertility and small poorly functioning testicles. Klinefelter’s Syndrome Klinefelter syndrome is the most common chromosomal disorder with prevalence of 1 in 500-640 men. 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. Objective: To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS. 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. 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 (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. Klinefelter’s Syndrome - Klinefelter's syndrome is a genetic disorder that only affects males. METHODOS. Klinefelter syndrome is one of the leading causes of male infertility. Identify the diagnostic evaluation of a male with Klinefelter syndrome based on the clinical presentation. What is Klinefelter’s syndrome? Watch Queue Queue. Prenatal detection of the Klinefelter syndrome karyotype is the first of three peaks in the diagnosis. Klinefelter syndrome is a spectrum disorder, with wide variations in presentation. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in … Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. dental college and hospital. physiology 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). No public clipboards found for this slide. Web. 1. Clipping is a handy way to collect important slides you want to go back to later. Several patients with both PWS and KS have been documented. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Symptoms are often not noticed until adolescence or adulthood. This results in sparse facial, body, or sexual hair; a high-pitched voice; and body fat distribution as is observed in females. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. nawras@me.com. It is a genetic disorder that affects males. Design: ... testosterone at the time of presentation were excluded. Principle Purpose of this study is to present on Klinefelter Syndrome. Presentation on Klinefelter Syndrome. 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. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. It is a genetic disorder that affects males. Early recognition and hormonal treatment of the disorder can … 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. • A genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype. Mosaicism 47,XXY/46,XX with clinical … Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. 16.7). Often, symptoms are subtle and subjects do not realize they are affected. : The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. Presentation on Klinefelter Syndrome. 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. 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