We shall now examine some famous people with … Mosaic forms with 47 XXY/46 XY karyotype constitute 10%-15% of cases. … Klinefelter syndrome is the most common sex chromosome disorder in males. It is one of the most common sex chromosome disorders in males and shows symptoms such as poor beard growth, narrow shoulders, gynaecomastia or breast development and under-developed testis. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). A “Y” chromosome is always present as well, so everyone with the condition is male. Different clinical presentation of Klinefelter’s syndrome in monozygotic twins D. Benaiges1,2,3,4, J. Pedro-Botet1,3,4, E. Hernandez1, S. Tarragon5, J. J. Chillaron1,2,3,4 & J. Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth. Klinefelter syndrome (KFS) is the commonest aneuploidy syndrome which occurs in about 150 per 1,00,000 males. Moreover, such males are sterile. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. Testosterone replacement … Road, Near Doli Villa, Haridevpur, … Chromosomal Variations - PPT. Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. The characteristic features of patients affected with Klinefelter's syndrome usually first become apparent during adolescence. Nearly all boys with KS have small testes with reduced function. We present … One pair is the sex chromosomes, which determine gender – boys usually have an X and a Y chromosome (XY), whereas girls have two X … Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. Chromosomes, found in all body cells, contain genes. In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. The appearance of at least one Y chromosome with a … Klinefelter syndrome occurs in 1 in 1100 newborn male babies … Klinefelter Syndrome Carla Fedor, RN ----- Introduction . Klinefelter syndrome 47,XXY was first described 70 years ago (1). 2012;2012:324835. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Klinefelter syndrome is a chromosomal aneuploidy characterized by the presence of 1 or more extra X chromosomes in a male karyotype, most commonly leading to karyotype 47,XXY. Unusual presentation of Klinefelter syndrome Indian J Endocrinol … Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Genes provide specific instructions for body characteristics and functions. … Date of Web Publication: 24-Dec-2013: Correspondence Address: Chanchal Das C/O - Sri Tirtha Kumar Chakravorty, 15/1 K.K. 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. With an incidence of 0.1% to 0.2% of male neonates (i.e. Klinefelter syndrome is a group of conditions affecting the health of males who are born with at least one extra X chromosome. 48,XXYY Klinefelter syndrome: XXYY syndrome: XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … Klinefelter syndrome is a genetic abnormality that is common with males. Pacenza N, Pasqualini T, Gottlieb S, Knoblovits P, Costanzo P, Usher JS, Rey R, Martinez M, Aszpis S. Clinical presentation of Klinefelter’s syndrome: differences according to age. In 1942, Dr. Harry Klinefelter and his coworkers first described the combination of features that has come to be recognized as Klinefelter Syndrome. 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). By the late 1950’s, researchers discovered that men with this group of symptoms had an extra sex chromosome, XXY instead of the usual male arrangement of XY. Klinefelter syndrome is a condition of trisomy in which the sex chromosomes of the affected individual has one extra X chromosome, i.e., XXY while the Turner syndrome is a condition of monosomy, i.e., the affected individual is genetically a female with one X minus having X0 chromosomal sequence of sex chromosomes. Recognize the clinical presentation of men with Klinefelter Syndrome 2. Review the pathophysiology and genetics of Klinefelter syndrome 3. Klinefelter syndrome is the most common sex chromosome disorder, manifested as hypogonadism, gynecomastia, and impaired spermatogenesis. Klinefelter syndrome usually occurs randomly. Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter syndrome usually occurs randomly. … The primary features are infertility and small poorly functioning testicles. Other physical changes may be found, but they do not affect all boys. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. 1. [] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a … Other physical changes may be found, but they do not realize they are affected %... 1000 living males, symptoms are often not noticed until adolescence or adulthood case that... 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