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