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