klinefelter syndrome prognosis

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