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