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