Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. While KS individuals have an extra X chromosome making the total number of … Advances in fertility treatments have made it possible for some to father children. Replacement therapy with sex hormones for life. Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY. Prognosis - The Future - Klinefelter's Syndrome Association : Klinefelter's Syndrome Association Prognosis – The Future Much of the early literature about Klinefelter’s Syndrome (KS) mentions the high proportion of KS males in the prison population and low IQ. (This can include being too tall, having long legs and a short trunk and the shoulders being equal to hips in size rather than wider, which is … Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation. Klinefelter Syndrome often referred to as XXY trisomy, XXY syndrome, and Klinefelter’s Syndrome is a chromosomal disorder exclusively associated with males having one or more of the X chromosome than the normal ‘XY’ pattern. Quality of life, limitations and expectatios of someone with Klinefelter Syndrome. Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY.Under normal circumstances males have XY sex chromosomes and females have XX sex chromosomes. Kaplan-Meier survival estimates were constructed from age at entry in and age at exit from the cohort. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Their chance of developing these disorders is similar to that of women in the general population. Azoospermia and Although success rates are poor at present, they are likely to improve. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. How would you pronounce Klinefelter Syndrome? For some, the symptoms start early in life and treatment may be needed throughout all stages of growth. Klinefelter Syndrome Symptoms. Long-term outcome in children of sex chromosome abnormalities. The association between Klinefelter syndrome and breast cancer is based on both cytogenetic analyses in men who had acquired breast cancer [11] and epidemiological studies. It can increase feelings of well-being, help to build muscle and improve cognitive abilities. Klinefelter syndrome happens when a male is born with an additional X chromosome. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. What causes Klinefelter syndrome? The condition results when one or more extra X chromosomes are present in the cells of XY fetuses. Mobile site version La sindrome di Klinefelter è una malattia genetica, cronica, caratterizzata da un'anomalia cromosomica in cui un individuo di sesso maschile possiede un cromosoma X soprannumerario. This video shows you how to say Klinefelter Syndrome. Much of the early literature about Klinefelter’s Syndrome (KS) mentions the high proportion of KS males in the prison population and low IQ. Annales … Many of those who have KS may not even realise they have the condition as 75% are undiagnosed. Ratcliffe, S. (1999). Often, symptoms are subtle and subjects do not realize they are affected. In order for us to create your customized HealthSavvy programs, we need a little more information about the health topic(s) that you are interested in. eMedTV serves only as an informational resource. Previous. Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) The prognosis of Klinefelter syndrome depends on the extent of the condition. Archives of Diseases in Children, 80(2), 192-195. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. The Klinefelter syndrome was first described in 1942 [].It affects approximately 1 / 600 men and thus belongs to the most frequently occurring genetic syndromes. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. It has been calculated that men with Klinefelter syndrome have a 15- to 20-fold 4.2 Chromosomes are packages of genes found in every cell in the body. An Overview of the Prognosis of Klinefelter Syndrome Because Klinefelter syndrome is a problem with the chromosomes, there is no cure for the disease yet. Prognosis and Outlook for Klinefelter Syndrome Prognosis for Klinefelter Syndrome The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. For some, the symptoms start early in life and treatment may be needed throughout all stages of growth. Klinefelter syndrome … The KSA has created a poster ‘What could I be?’  (click here) to help raise awareness of the skills and achievements of a cross-section of our members. 0 answers. Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man and is a common cause of hypogonadism. 2 It is especially helpful to begin treatment by early puberty. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Analysis of 25 years of studies involving 466 men with Klinefelter syndrome found that patients had a 50% higher mortality rate 3 and their life expectancy was 5 years shorter than average. In order for us to best serve you and provide you with the best information, can you please tell us if you currently have health insurance? It is sometimes just called XXY. It was clinically described for the first time by Kleinfelter in 1942. Quality of life, limitations and expectatios of someone with Klinefelter Syndrome. Testosterone replacement should protect bone health and induce secondary sex characteristics such as body and facial hair. Klinefelter syndrome prognosis Babies with the 47, XXY form of Klinefelter differ little from healthy children. Some of our members have written about their lives which we hope will change the perception of the abilities of those with KS or XXY. How would you pronounce Klinefelter Syndrome? « What are common symptoms? Klinefelter Syndrome prognosis What is the prognosis if you have Klinefelter Syndrome? Click. Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Between 1 in 500 and 1 in 1,000 boys are born with Klinefelter's syndrome (KS). Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. Klinefelter syndrome has a different prognosis and depends on the form of the disease, combined hormonal and somatic disorders. We offer support and information to all affected by, or having an interest in, Klinefelter’s Syndrome. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Germ cells do not survive in the testes, leading to decreased sperm and androgens. Hormone testing. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Klinefelter syndrome … For other men, there aren’t any signs and they might not ever know they have the condition. The extra X chromosomes are maternally derived in 60% of cases. Rarely people with Klinefelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXXXY.This is associated with more severe features. We use cookies to ensure that we give you the best experience on our website. Klinefelter's syndrome is a genetic condition that only affects males. Klinefelter syndrome can be different for different people. Prognosis for Klinefelter Syndrome Treatment can help boys and men with Klinefelter live happy, healthy lives. … Plotton, I., Brosse A., & Lejeune, H. (2010). Klinefelter syndrome shows a wide phenotypic spectrum, ranging from mild or aspecific (undetected) cases, to sterility, to learning or behavioral problems and/or physical features becoming manifest at an early age. The prognosis for Klinefelter Syndrome Life expectancy in patients with Klinefelter syndrome is near to the average life expectancy and therefore has an overall good prognosis. Chromosome analysis. Physical symptoms of Klinefelter syndrome include: Being born with a smaller penis, and/or undescended testicle (s). Genetics in Medicine, 5(6), 460-468. These old medical books often paint a rather bleak picture. Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Older children and adults with Klinefelter syndrome tend to be taller than their peers. Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1/500 live male births. This video shows you how to say Klinefelter Syndrome. Please sign into you HealthSavvy account. Klinefelter syndrome is a genetic condition in which a boy is born with an extra sex chromosome. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. It results from an unequal sharing of sex chromosomes soon after fertilization. Chromosomes are packages of genes found in every cell in the body. Ratcliffe, S. (1999). 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