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