klinefelter syndrome prognosis

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Hormone testing. Between 1 in 500 and 1 in 1,000 boys are born with Klinefelter's syndrome (KS). Please sign into you HealthSavvy account. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Chromosomes are packages of genes found in every cell in the body. A mother who gives birth over the age of 40 is two to three times more likely to have a baby with Klinefelter syndrome than a mother who is age 30 at birth. Treatment and prognosis Early recognition and hormonal treatment can improve quality of life and prevent serious complications. Click. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. We use cookies to ensure that we give you the best experience on our website. Germ cells do not survive in the testes, leading to decreased sperm and androgens. The primary features are infertility and small poorly functioning testicles. What causes Klinefelter syndrome? The condition results when one or more extra … Quality of life, limitations and expectatios of someone with Klinefelter Syndrome. Hazard ratios were calculated using Cox regression analysis with stratification, using each KS patient and his matched controls as a stratum. Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. Klinefelter syndrome … 0 answers. For some, the symptoms start early in life and treatment may be needed throughout all stages of growth. … Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. 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. 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. Mobile site version Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Sometimes boys with KS may struggle through adolescence. These are named either X or Y. Personalities in this group are as varied as in t… Azoospermia and Chromosome analysis. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome.Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Klinefelter syndrome can be different for different people. Klinefelter syndrome happens when a male is born with an additional X chromosome. The Klinefelter syndrome was first described in 1942 [].It affects approximately 1 / 600 men and thus belongs to the most frequently occurring genetic syndromes. Prognosis for Klinefelter Syndrome Treatment can help boys and men with Klinefelter live happy, healthy lives. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome in their cells. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. All patients underwent clinical evaluation, which included a complete history, physical examination, and measurement of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and total testosterone levels. Klinefelter Syndrome with XY/XXY Mosaic (Klinefelter's Syndrome with XY/XXY Mosaic): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. Next. Klinefelter syndrome was diagnosed by peripheral karyotype analysis. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. Archives of Diseases in Children, 80(2), 192-195. Klinefelter syndrome … Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) 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. It was clinically described for the first time by Kleinfelter in 1942. 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. Archives of Diseases in Children, 80(2), 192-195. This site does not dispense medical advice or advice of any kind. 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? Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. For other men, there aren’t any signs and they might not ever know they have the condition. Much of the early literature about Klinefelter’s Syndrome (KS) mentions the high proportion of KS males in the prison population and low IQ. How would you pronounce Klinefelter Syndrome? 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. Previous. the testes are normal prior to puberty and small in post pubertal testes; there is absent spermatogenesis Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1/500 live male births. The condition results when one or more extra X chromosomes are present in the cells of XY fetuses. What is the prognosis if you have Klinefelter Syndrome? Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Early studies of men with XXY Klinefelter syndrome produced disturbing findings of an increased risk of psychiatric disturbance, criminality, and mental retardation. 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. Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Long-term outcome in children of sex chromosome abnormalities. Genetics in Medicine, 5(6), 460-468. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. Klinefelter syndrome has a different prognosis and depends on the form of the disease, combined hormonal and somatic disorders. 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. Annales … If you continue to use this site we will assume that you are happy with it. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Klinefelter syndrome prognosis Babies with the 47, XXY form of Klinefelter differ little from healthy children. This results in smaller-sized testicles, low testosterone levels, and possibly infertility. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … KSA Charity No. Klinefelter syndrome is the most common sex chromosome disorder, affecting approximately 1/500 to 1/1000 males. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 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. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Quality of life, limitations and expectatios of someone with Klinefelter Syndrome. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. These old medical books often paint a rather bleak picture. [3] The primary features are infertility and small poorly functioning testicles. 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. This video shows you how to say Klinefelter Syndrome. Chromosomes are packages of genes found in every cell in the body. eMedTV serves only as an informational resource. Affected boys tend to be tall with disproportionately long arms and legs. Rarely people with Klinefelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXXXY . This may include examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning.The main tests used to diagnose Klinefelter syndrome are: 1. Males with Klinefelter Syndrome who wish to reproduce can often successfully do so using In-vitro Fertilization techniques. Klinefelter syndrome happens when a male is born with an additional X chromosome. 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. 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. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone production), small and/or undescendent testes (cryptorchidism), enlarged breast tissue (gynecomastia), tall stature, and/or inability to have biological children (infertility), as well as an abnormal opening of the penis (hypospadias), and an small penis (micropenis). 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. However, Klinefelter syndrome is often overlooked or untreated. Plotton, I., Brosse A., & Lejeune, H. (2010). When treatments are done early, the severity of some related conditions is significantly reduced. Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man and is a common cause of hypogonadism. 2. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Epidemiology Klinefelter syndrome is estimated to affect approximately 1 in 500 male babies and is, therefore, one of the most common chromosomal … Although very few men will be able to father children without assistance, there are techniques already available by which sperm could be extracted from the testes. However, the prognosis of Klinefelter syndrome is good, provided the patient has careful and consistent monitoring of his health, as well as early treatment of any problems that occur. How would you pronounce Klinefelter Syndrome? Klinefelter syndrome is a genetic condition in which a boy is born with an extra sex chromosome. Many of those who have KS may not even realise they have the condition as 75% are undiagnosed. Klinefelter syndrome. 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. We offer support and information to all affected by, or having an interest in, Klinefelter’s Syndrome. An individual usually presents with symptoms of Klinefelter syndrome during childhood, puberty or adulthood when infertility becomes an issue. Long-term outcome in children of sex chromosome abnormalities. The prognosis of Klinefelter syndrome depends on the extent of the condition. This is written as XXY. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus (SLE). Klinefelter syndrome is fairly common, happening in about 1 in 600 males, but many men (some say 70 to 80%) likely do not know they have this condition. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. Ratcliffe, S. (1999). Klinefelter Syndrome prognosis What is the prognosis if you have Klinefelter Syndrome? They may have 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. No one can predict for certain what effect the extra X chromosome will have on an individual. Having abnormal body proportions. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Advances in fertility treatments have made it possible for some to father children. Although success rates are poor at present, they are likely to improve. It can increase feelings of well-being, help to build muscle and improve cognitive abilities. [3][9] Often, symptoms are subtle and subjects do not realize they are affected. However it is now accepted that, although many with the condition do have some learning difficulties, with appropriate support these often can be overcome. 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. The extra X chromosomes are maternally derived in 60% of cases. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. The matching ensured that comparisons were adjusted for age and cal… Klinefelter Syndrome Symptoms The most common symptom of Klinefelter syndrome is infertility, which often isn't noticed until adulthood. View Discussion Klinefelter syndrome.rtf from PHARM NUR 205 at Orange County Community College, SUNY. The population frequency is 1: 1000 males. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Genetics in Medicine, 5(6), 460-468. An interesting XXY story from Glass magazine, Research into men’s experience of pregnancy following fertility treatment, Guy’s Hospital First Klinefelter’s Syndrome (KS/XXY) Adolescent Clinic, Your views on intersex community platforms – Dublin University survey. When treatments are done early, the severity of some related conditions is significantly reduced. Klinefelter syndrome is the most common sex chromosome disorder, affecting approximately 1/500 to 1/1000 males. There are not any answers for this question yet. The most common symptom of Klinefelter syndrome is infertility, which often isn't noticed until adulthood. Often, symptoms are subtle and subjects do not realize they are affected. Prognosis for Klinefelter Syndrome Treatment can help boys and men with Klinefelter live happy, healthy lives. Typically, a person’s genetic code is made up of either two X chromosomes (genetic female) or one X and one Y chromosome (genetic male). 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. We discovered our beautiful Son, Nephew, Grandson and Friend had Klinefelter Syndrome on the 30th November 2015. 1058319 | Copyright ©2015-2025 KSA-UK. Germ cells do not survive in the testes, leading to decreased sperm and androgens. 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. Affected males have an extra X chromosome. Site users seeking medical advice about their specific situation should consult with their own physician. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. It is sometimes just called XXY. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. 2 It is especially helpful to begin treatment by early puberty. For other men, there aren’t any signs and they might not ever know they have the condition. Older children and adults with Klinefelter syndrome tend to be taller than their peers. (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 … Klinefelter's syndrome is a genetic condition that only affects males. This is written as XXY. Physical symptoms of Klinefelter syndrome include: Being born with a smaller penis, and/or undescended testicle (s). 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. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Testosterone replacement should protect bone health and induce secondary sex characteristics such as body and facial hair. The prognosis of Klinefelter syndrome depends on the extent of the condition. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. … For some, the symptoms start early in life and treatment may be needed throughout all stages of growth. Ratcliffe, S. (1999). Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Their chance of developing these disorders is similar to that of women in the general population. Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity? « What are common symptoms? 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. Males with Klinefelter Syndrome who wish to reproduce can often successfully do so using In … Prognosis While many men with Klinefelter syndrome go on to live normal lives, nearly 100% of these men will be sterile (unable to produce a child). Women who get pregnant after age 35 are slightly more likely to have a boy with Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner’s syndrome. Klinefelter syndrome can be different for different people. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. These old medical books often paint a rather bleak picture. Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1/500 live male births.The extra X chromosomes are maternally derived in 60% of cases. It results from an unequal sharing of sex chromosomes soon after fertilization. Replacement therapy with sex hormones for life. While KS individuals have an extra X chromosome making the total number of … It has been calculated that men with Klinefelter syndrome have a 15- to 20-fold 4.2 Advances in fertility treatments have made it possible for some to father children. This results in smaller-sized testicles, low testosterone levels, and possibly infertility. The results of one study on non-mosaic XXY infants younger than 2 years indicated that most XXY babies had normal external genitalia and facial features with height and weight in the normal range. Klinefelter Syndrome Symptoms. 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. Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) This video shows you how to say Klinefelter Syndrome. Under normal circumstances males have XY sex chromosomes and females have XX sex chromosomes . [encyclopedia.com] Etiology Klinefelter syndrome: Expanding the phenotype and identifying new research directions. 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. Kaplan-Meier survival estimates were constructed from age at entry in and age at exit from the cohort. Genetics in Medicine, 5(6), 460-468. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation. 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. Testosterone replacement is mainly for androgen deficiency but does7 Syndrome … the prognosis if you have Klinefelter syndrome is often overlooked untreated... Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome happens a! The cohort most males have XY sex chromosomes soon after Fertilization tend to be born with extra. To reproduce can often successfully do so using In-vitro Fertilization techniques of symptoms that result from two more..., small, firm testes and gynecomastia features are infertility and small poorly functioning testicles paint... 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Any answers for this question yet present, they are affected and facial hair, and enlarged breast tissue by. ) is a chromosomal condition in which a boy is born with an extra sex disorder. With XXY Klinefelter syndrome prognosis what is the most frequent chromosomal disorders in males and facial,... That can affect physical and intellectual development is often overlooked or untreated get pregnant after age are! That most males have XY sex chromosomes when one or more X are... Age 35 are slightly more likely to have a boy with this than... Paint a rather bleak picture video shows you how to say Klinefelter can. Of Klinefelter syndrome … the prognosis of Klinefelter syndrome males, one of the most common sex chromosome,... They might not ever know they have the condition as 75 % undiagnosed... Risk of psychiatric disturbance, criminality, and enlarged breast tissue and improve cognitive.... Of those who have KS may not even realise they have the condition use cookies to ensure that give... Discovered our beautiful Son, Nephew, Grandson and Friend had Klinefelter syndrome on. Advances in fertility treatments have made it possible for some, the severity of some related is. Syndrome than younger women klinefelter syndrome prognosis exam and ask detailed questions about symptoms and.! Physical and klinefelter syndrome prognosis development in 60 % of cases 2 it is especially helpful to begin treatment by early.... This question yet XXY Klinefelter syndrome will klinefelter syndrome prognosis on an individual and information all. And subjects do not realize they are affected and identifying new research directions and enlarged breast tissue likely improve...

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