Klinefelter syndrome is a genetic abnormality that is common with males. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. … 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 syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Recognize the clinical presentation of men with Klinefelter Syndrome 2. Review the pathophysiology and genetics of Klinefelter syndrome 3. Genes provide specific instructions for body characteristics and functions. Unusual presentation of Klinefelter syndrome Chanchal Das, Pranab Kumar Sahana, Nilanjan Sengupta, Mukut Roy, Ranen Dasgupta Department of Endocrinology, N.R.S. For example, some genes determine height and hair color. Klinefelter syndrome 47,XXY was first described 70 years ago (1). Date of Web Publication: 24-Dec-2013: Correspondence Address: Chanchal Das C/O - Sri Tirtha Kumar Chakravorty, 15/1 K.K. … 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. Humans have 23 pairs of chromosomes (total 46 chromosomes), which are inherited from both parents. 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. 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's syndrome is present in about 1 in 1000 living males. Azoospermia, gynecomastia, and the presence of small atrophic testes in otherwise normal males are the clinical hallmarks of the disease. The characteristic features of patients affected with Klinefelter's syndrome usually first become apparent during adolescence. PubMed PubMedCentral CrossRef Google Scholar Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Clinical Presentation. The mosaic KS patients were all pattern 47,XXY/46,XY. Epidemiology The estimated incidence is 0.15-0.2% of live births. Klinefelter syndrome result from two or more X chromosome in males. Road, Near Doli Villa, Haridevpur, … 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. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Presentation Summary : Chromosomal Variations. 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 result from two or more X chromosome in males. … View and Download PowerPoint Presentations on Klinefelter Syndrome PPT. 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, … 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). We shall now examine some famous people with … 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. Classical form is the 47 XXY karyotype which constitutes around 90% 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. We present … 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. 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 (KFS) is the commonest aneuploidy syndrome which occurs in about 150 per 1,00,000 males. 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 a group of conditions affecting the health of males who are born with at least one extra X chromosome. 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. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Int J Endocrinol. 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 chromosomal aneuploidy characterized by the presence of 1 or more extra X chromosomes in a male karyotype, most commonly leading to karyotype 47,XXY. Although, XXY is common, … Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease. 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. 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. Moreover, such males are sterile. Patients with Klinefelter syndrome are highly susceptible to psychiatric disturbances as compared to the general population. Symptoms are often not noticed until adolescence or adulthood. Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth. Klinefelter syndrome is the most common sex chromosome disorder in males. It is characterized by the presence of one or more extra X chromosomes. Nearly all boys with KS have small testes with reduced function. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. The appearance of at least one Y chromosome with a … Other physical changes may be found, but they do not affect all boys. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. Chromosomes, found in all body cells, contain genes. Testosterone replacement … 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). In 1942, Dr. Harry Klinefelter and his coworkers first described the combination of features that has come to be recognized as Klinefelter Syndrome. 2012;2012:324835. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. 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