Other physical changes may be found, but they do not affect all boys. … It is associated with an increased risk of certain malignancies; including leukemia, breast cancer, non-Hodgkin's lymphoma and mediastinal germ cell tumors, however, testicular tumors are rare in men with Klinefelter … 48,XXYY Klinefelter syndrome: XXYY syndrome: XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. 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). A “Y” chromosome is always present as well, so everyone with the condition is male. Klinefelter syndrome is one of the leading causes of male infertility. Each person … Presentation Summary : Chromosomal Variations. View and Download PowerPoint Presentations on Klinefelter Syndrome PPT. Klinefelter syndrome (KFS) is the commonest aneuploidy syndrome which occurs in about 150 per 1,00,000 males. The primary features are infertility and small poorly functioning testicles. Moreover, such males are sterile. Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth. The mean age at presentation was 37 years. 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. Klinefelter syndrome is a genetic abnormality that is common with males. With an incidence of 0.1% to 0.2% of male neonates (i.e. Genes provide specific instructions for body characteristics and functions. 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. Epidemiology The estimated incidence is 0.15-0.2% of live births. Klinefelter syndrome occurs in 1 in 1100 newborn male babies … 1. Despite the high rate of thromboembolic disease in patients with KS, the etiology of this phenomenon is not well understood, and most of our current knowledge is limited to small sample studies. 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. 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. 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 group of conditions affecting the health of males who are born with at least one extra X chromosome. Chromosomes, found in all body cells, contain genes. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Some of the symptoms include less facial hair than is normal, broader hips that are typical of women, larger breast than other males, weaker bones and lower energy levels as compared to other males. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. … Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Testosterone replacement … 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. Medical College and Hospital, Kolkata, West Bengal, India. Humans have 23 pairs of chromosomes (total 46 chromosomes), which are inherited from both parents. This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Klinefelter syndrome usually occurs randomly. Because most boys with Klinefelter syndrome appear similar to boys with normal karyotypes, the disorder typically is identified in adulthood, when infertility or gynecomastia are common presentations. Endocrinology is the management of problems with hormones. … It is characterized by the presence of one or more extra X chromosomes. Unusual presentation of Klinefelter syndrome Chanchal Das, Pranab Kumar Sahana, Nilanjan Sengupta, Mukut Roy, Ranen Dasgupta Department of Endocrinology, N.R.S. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. Chromosomes carry our genetic information. Most often, boys and men with Klinefelter syndrome have the usual X and Y … PubMed PubMedCentral CrossRef Google Scholar Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter’s Syndrome is a condition where males have an additional X-chromosome, which results in a karyotype of forty seven, that is, XXY. Sponsored Links Displaying klinefelter syndrome PowerPoint Presentations. One pair is the sex chromosomes, which determine gender – boys usually have an X and a Y chromosome (XY), whereas girls have two X … Classical form is the 47 XXY karyotype which constitutes around 90% of cases. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. Klinefelter syndrome 47,XXY was first described 70 years ago (1). We shall now examine some famous people with … Many boys and men with KS have no other unusual physical features at all. Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. 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. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth. Boys with Klinefelter Syndrome (KS) have two (or more) “X” chromosomes in every cell, instead of the usual one. In a classical scenario, the diagnosis is suggested … It can affect physical and mental development. Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. Klinefelter syndrome is a rare chromosomal disorder with at least one extra X chromosome in males resulting in male hypogonadism, androgen deficiency and impaired spermatogenesis. KFS … The mosaic KS patients were all pattern 47,XXY/46,XY. 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. 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. Nearly all boys with KS have small testes with reduced function. 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. Klinefelter syndrome is the most common sex chromosome disorder, manifested as hypogonadism, gynecomastia, and impaired spermatogenesis. testosterone at the time of presentation were excluded. Klinefelter's syndrome is present in about 1 in 1000 living males. The characteristic features of patients affected with Klinefelter's syndrome usually first become apparent during adolescence. Find PowerPoint Presentations and Slides using the power of XPowerPoint.com, find free presentations research about Klinefelter Syndrome PPT. Klinefelter syndrome usually occurs randomly. In 1942, Dr. Harry Klinefelter and his coworkers first described the combination of features that has come to be recognized as Klinefelter Syndrome. Unusual presentation of Klinefelter syndrome Indian J Endocrinol … Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … Klinefelter syndrome is the most common sex chromosome disorder in males. Clinical Presentation. We present … 2012;2012:324835. For KS patients, other than the risks of low testosterone, patients also have an increased risk of diabetes and osteoporosis (weak bones). Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The diagnosis can be made in those individuals with a karyotype showing at least one extra X chromosome along with XY. [] 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 … For example, some genes determine height and hair color. Azoospermia, gynecomastia, and the presence of small atrophic testes in otherwise normal males are the clinical hallmarks of the disease. Recognize the clinical presentation of men with Klinefelter Syndrome 2. Review the pathophysiology and genetics of Klinefelter syndrome 3. These include personality changes, depression, and psychosis. A. Flores Le-Roux1,2,3,4 1 Department of Endocrinology and Nutrition, Hospital del Mar, Barcelona, Spain; 2 Department of Internal Medicine, Hospital Comarcal de l’Alt Penedes, Barcelona, Spain; 3 Department of Medicine, … … Symptoms are often not noticed until adolescence or adulthood. Road, Near Doli Villa, Haridevpur, … Chromosomal Variations - PPT. Int J Endocrinol. Klinefelter syndrome result from two or more X chromosome in males. Klinefelter Syndrome Carla Fedor, RN ----- Introduction . Other genes influence language skills and reproductive functions. Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. Klinefelter syndrome result from two or more X chromosome in males. Date of Web Publication: 24-Dec-2013: Correspondence Address: Chanchal Das C/O - Sri Tirtha Kumar Chakravorty, 15/1 K.K. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. Although, XXY is common, … Klinefelter’s syndrome is a genetic disorder whereby a boy is born with one or more extra X chromosomes. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. 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 appearance of at least one Y chromosome with a … This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease. It is estimated that 1 in every 500 may have the syndrome. Of the remaining 86, 6 (6.7%) were mosaic KS, and 80 (93.3%) were non-mosaic KS (Table 1). Mosaic forms with 47 XXY/46 XY karyotype constitute 10%-15% of cases. Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Of male neonates ( i.e of one or more X chromosome in males in! Syndrome usually first become apparent during adolescence is male researchers suspect that Klinefelter syndrome PPT and! 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