Klinefelter syndrome childrens hospital of philadelphia chop. The xxy condition that causes klinefelter syndrome cant be changed, but medical treatment and working with. Klinefelter syndrome or klinefelters syndrome is the set of symptoms resulting from additional x genetic material in males. Klinefelter syndrome pictures, images, causes, symptoms, treatment. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,xxyy and 48,xxxy. A condition in males who have xxy sex chromosomes, rather than the usual xy.
Non disjunction animation klinefelters syndrome youtube. In 1942, klinefelter, refenstein and albright found nine men with small testes, aspermia, elevated urinary gonadotrophins and gynecomastics. Many support groups have found that a meetings with a speaker and group discussion, and social events such as picnics or meetings at restaurants work best to. Klinefelter syndrome puts males at greater risk of breast cancer, other cancers and diseases, problems with blood vessels, problems with sexual function, and osteoporosis weak bones later in life. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75. Variants of the disease with three, four, or more extra.
The term klinefelter syndrome ks describes a group of chromosomal disorder in which there is at least one extra x chromosome to a normal male karyotype, 46,xy. Klinefelter syndrome is known as the forgotten syndrome because of common occurrence but under diagnosed condition, despite being discovered 7 years ago. Klinefelter syndrome is a genetic condition affecting males. K linefelter s syndrome is the most common form of male hypogonadism and chromosome aneuploidy with a reported prevalence of 0. Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1500 live male births. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Powtoons animation templates help you create animated presentations and animated explainer videos from scratch. Klinefelter syndrome is one of the most common chromosome conditions in newborns. Chromosomes are packages of genes found in every cell in the body.
Often it is only at puberty that these symptoms are noticed. 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 about one of every 500 males has an extra x chromosome, but many dont have any symptoms. Klinefelter syndrome diagnosis and treatment mayo clinic. About 1 in every 500 to 800 males is born with this disorder. Klinefelter syndrome is a genetic condition affecting male sexual development females are not affected. May 23, 2017 klinefelter syndrome is one of the most common chromosome conditions in newborns.
Klinefelter syndrome ks is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. The xxy condition that causes klinefelter syndrome cant be. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to. Most boys with klinefelter syndrome can have sex when they become men, usually with the help of testosterone treatment. The 2 sex chromosomes x and y determine if you become a boy or a girl. Klinefelter syndrome, also known as xxy, is a genetic disorder affecting males from birth. Klinefelter syndrome sometimes called klinefelters, ks or xxy is where boys and men are born with an extra x chromosome.
Many boys with klinefelter syndrome also known as xxy syndrome have no signs or symptoms, and some dont even know they have it until later in life. Klinefelter syndrome simple english wikipedia, the free. The primary features are infertility and small poorly functioning testicles. Powtoon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume. Anyone can produce awesome animations quickly with powtoon, without the cost or. While large studies of boys with ks are uncommon only 10% of affected males are diagnosed during childhood, the time around puberty peripubertal time is presumed to be a susceptible time for the emergence of physical and psychosocial health issues. Klinefelters syndrome treatment this syndrome is noncurable. Klinefelter syndrome, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. Klinefelter syndrome results when a boy is born with at least 1 extra x chromosome. Support groups the association for x and y chromosome.
Klinefelter syndrome genetic and rare diseases information. Many support groups have found that a meetings with a speaker and group discussion, and social events such as picnics or meetings at restaurants work best to build a strong network. Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. The extra x chromosome can affect physical, developmental, behavioral, and cognitive functioning. Klinefelter syndrome is a genetic condition that occurs in males when they have an extra x chromosome. Natural cure for klinefelters syndrome and alternative. Klinefelter syndrome pictures, symptoms, causes, treatment. Klinefelter syndrome for parents nemours kidshealth. The extra x chromosomes are maternally derived in 60% of cases.
Klinefelter syndrome symptoms and causes mayo clinic. List of klinefelter syndrome medications 1 compared. Rather than the usual pattern of 46 chromosomes, with one x chromosome and one y chromosome, there is an additional x chromosome, resulting in a genetic signature of 47,xxy. Klinefelter syndrome is a fairly common genetic condition found in males only. Klinefelter syndrome definition of klinefelter syndrome by. Often, symptoms may be subtle and many people do not realize they are affected. 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 sometimes called klinefelter s, ks or xxy is where boys and men are born with an extra x chromosome. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Most commonly, affected individuals are taller than average are unable to father biological children infertile. It affects between 1 in 500 and 1 in 1,000 newborn males.
Klinefelters syndrome diagnosis the only reliable method to confirm diagnosis of klinefelters syndrome is through karyotype testing. This genetic disorder occurs when a male is born with an extra copy of the x chromosome and may result in low testosterone production and. Klinefelter s syndrome is a chromosomal abnormality resulting in hypogonadism. Some also have additional x chromosomes, or more than one y chromosome.
For example, klinefelter syndrome is a common genetic cause of male infertility, but the risk of a transmitting man with klinefelter syndrome. Fun facts klinefelter syndrome is one of the most common genetic disorder that occurs in males under a category of male common diseases. Dec 17, 2015 powtoons animation templates help you create animated presentations and animated explainer videos from scratch. Klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Intellectual impairment andor neuropsychiatric disorder are present in many cases. Klinefelters syndrome ks is a male genetic disorder, caused by decreased testosterone levels, which. Turner syndrome refers to the 45 xo karyotype that results. Klinefelter syndrome information mount sinai new york. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for klinefelter syndrome. Klinefelter syndrome causes, symptoms, diagnosis, treatment. The patient has abnormal gonadal development with hyalinized testes that result in low testosterone levels and elevated levels of gonadotropin. Gynecomastia is a common clinical finding but has many uncommon etiologies.
Klinefelter syndrome is a condition that occurs in men as a result of an extra x chromosome. Klinefelter syndrome synonyms, klinefelter syndrome pronunciation, klinefelter syndrome translation, english dictionary definition of klinefelter syndrome. Klinefelter syndrome is one of the most common chromosomal abnormalities. In patients with this kind of disorder, their chromosome pattern is xxy pattern 1. Instead of having a normal number of chromosomes which is 46, the klinefelter patients have. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. The mosaic forms of klinefelter syndrome are due to mitotic nondisjunction after fertilization of the zygote. In some cases, the features of the condition are so mild that. Also known as 47,xxy or xxy, klinefelter syndrome is a genetic disorder in which there is at least one extra x chromosome to a standard human male karyotype, for a total of 47 chromosomes rather than t. It is a condition in boys caused by the presence of an extra x chromosome. Im a parent of a diagnosed child the association for x and.
Klinefelter syndrome is a condition in which males have an extra x sex chromosome. It can cause a variety of problems, including a small penis, small testes and infertility. Klinefelter syndrome pictures, causes, symptoms, treatment. Klinefelters syndrome is a chromosomal abnormality resulting in hypogonadism. Klinefelter syndrome is a common genetic chromosomal condition which occurs when a boy is born with an extra copy of the x chromosome. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Germ cells do not survive in the testes, leading to decreased sperm and androgens.
Even though all men with klinefelter syndrome have the extra x chromosome, not every xxy male has all of those symptoms. Klinefelter syndrome is a chromosomal anomaly affecting males that occurs when a boy is born with an extra x chromosome. Klinefelter syndrome nord national organization for. Klinefelter syndrome is just one of many conditions associated with gynecomastia. Cardiometabolic profiles of boys with klinefelter syndrome. Controlled studies should be done to determine the best age for teseicsi in 47. Cardiometabolic profiles of boys with klinefelter syndrome the safety and scientific validity of this study is the responsibility of the study sponsor and investigators.
It occurs if you are born with an extra x chromosome. Klinefelter syndrome, 47, xxy, or xxy syndrome is a genetic disorder where people have an extra number of x chromosomes. Drugs used to treat klinefelter syndrome the following list of medications are in some way related to, or used in the treatment of this condition. Listing a study does not mean it has been evaluated by the u. Typical symptoms of this condition include breast development, small testes, and sparse facial and body hair. Klinefelter syndrome ks with the karyotype 47,xxy is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0. Klinefelter syndrome extra x chromosome hormone solutions.
During childhood, and even during early puberty, pituitarygonadal function in 47,xxy subjects is relatively normal, but from midpuberty onwards, fsh and lh levels increase to hypergonadotropic levels, inhibin b decreases to undetectable levels, and. Since the diagnosis of klinefelter syndrome often occurs in puberty, plastic surgeons may be the first physicians in a position to diagnose the disorder. In 1942, klinefelter, refenstein and albright found nine men with small testes. Klinefelter syndrome is a genetic disorder affecting males that results from having an extra x chromosome.
Psychiatric aspects of klinefelters syndrome american. Support groups can meet in homes, public meetings spaces at libraries or churches and synagogues, or in community rooms at hospitals. Klinefelter syndrome 47, xxy is a chromosomal variation in males in which one extra x chromosome is present, resulting in a xxy sex chromosome karyotype. Dec 16, 2015 gynecomastia is a common clinical finding but has many uncommon etiologies. Oct 24, 2006 the term klinefelter syndrome ks describes a group of chromosomal disorder in which there is at least one extra x chromosome to a normal male karyotype, 46,xy. Klinefelter syndrome and other sex chromosomal aneuploidies. Chromosomes contain all of your genes and dna, the building blocks of the body. Klinefelter syndrome for parents childrens mercy hospital. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex.
Common physical features may include tall stature, reduced muscle tone, small testes. You have in your sources 2 pieces of literature that bear this out. For example, klinefelter syndrome is a common genetic cause of male infertility, but the risk of a transmitting man with klinefelter syndrome having a son with a karyotype associated. Klinefelter syndrome syndrome in males that is characterized by small testes and long legs and. Klinefelter syndrome is the presence of an extra x chromosome in a male. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with.
Henry klinefelter, who first described a group of symptoms found in some men with the extra x chromosome. The klinefelter syndrome is a known genetic condition which affects menboys. Treatment options include testosterone, surgery, and counseling. The klinefelters syndrome association ksa offers support and information to all affected by, or having an interest in, klinefelters syndrome ks and xxy. These forms can arise from a 46,xy zygote or a 47,xxy zygote. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the x chromosome. Xxy is one of the most common chromosomal abnormalities. Klinefelter syndrome is a chromosomal disorder wherein there is an extra x chromosome in the cells of the affected males.
People who have klinefelters syndrome are often called xxy males, or. Klinefelter syndrome nord national organization for rare. Sep 21, 2019 klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the x chromosome. If we dont have a program for you now, please continue to check back with us. Successful fertility treatment for klinefelters syndrome. Klinefelter syndrome is a genetic condition affecting males, and it often isnt diagnosed until adulthood. Boys with klinefelter syndrome ks are known to have an increased risk for psychosocial problems. Oct 26, 2015 boys with klinefelter syndrome ks are known to have an increased risk for psychosocial problems. The multiple cases of 47,xxy females are all the more reason to not use the outdated term klinefelter syndrome since 1 not all xxys are male 2 not all xxy males have klinefelter syndrome and 3 not all males with klinefelter syndrome are xxy or variant, some are xy.
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