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