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