Klinefelter syndrome is one of the most common chromosome conditions in newborns. They have friends and families. Les messages. The manifestations exhibit depending on the number of XXY cells that the male has, the age his condition was diagnosed, and the amount of testosterone in the body. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. Klinefelter Syndrome predominantly affects the reproductive system in males, causing hypogonadism, infertility, and low libido. Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated. This site complies with the HONcode standard for trustworthy health information: verify here. Testosterone replacement therapy reduces the risk of certain health problems, especially when therapy is started at the beginning of puberty. Extra copies of genes on the X chromosome can interfere with male sexual development and fertility. There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. A child with Klinefelter syndrome presents with muscular weakness, but as the child nears adulthood they tend to have a tall stature. When a diagnosis is made, treatment is based on the signs and symptoms present in each person, especially the problems related to hypogonadism, gynecomastia, and psychosocial problems. Most of the symptoms of Klinefelter syndrome occur as a result of low testosterone in the body. Symptoms Men with Klinefelter syndrome have small, firm testes, and they often have breast enlargement (gynecomastia) and inordinately long legs and arms (eunuchoidism) and are infertile. The most characteristic symptom of Klinefelter syndrome is hypoplasia of the testes and the penis (hypogonadism and hypogenitalism). Get the latest public health information from CDC: https://www.coronavirus.gov Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Klinefelter syndrome (47,XXY). Treatment may include: Testosterone replacement: About half of people with … Les principales caractéristiques sont l' infertilité et les petits testicules qui fonctionnent mal . This results in smaller-sized testicles, low testosterone levels, and possibly infertility. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Males with this condition typically have small testes that do not produce enough testosterone. Variants of … In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Our genes help make up the blueprint for who we are. Les mâles avec le syndrome de Klinefelter ont des chromosomes de XXY, plutôt que les chromosomes DE X/Y, menant à un niveau plus bas de la testostérone mâle d'hormone et des sympt40mes relatifs Klinefelter syndrome adversely affects … In most cases, what brings patients to the doctor is a combination of gynecomastia, infertility, and other symptoms of hypogonadism. Having abnormal body proportions. Signes cliniques. For others, the condition has a noticeable effect on growth or appearance. 2019; doi:10.1038/s41598-019-44018-4. Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? Il n'existe pas de traitement qui guérisse complétement les manifestations de ce syndrome car il est d'origine chromosomique. Males have an X and a Y sex chromosome (XY). Klinefelter syndrome occurse due to a random event when the reproductive cells (eggs and sperm) are forming in the parent. AskMayoExpert. In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome. Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is … It is relatively common, occurring in about 1 of every 500 baby boys. These individuals may experience more severe signs and symptoms. Physical symptoms are those that impact the body. Klinefelter syndrome may increase the risk of: A number of complications caused by Klinefelter syndrome are related to low testosterone (hypogonadism). Klinefelter syndrome treatment costs can run into the thousands if surgery or repeated treatments are needed. Klinefelter Syndrome (xxy syndrome) Symptoms, Causes, Treatment. Klinefelter syndrome symptoms. Klinefelter syndrome refers to a group of chromosomal disorders in which there is an extra X chromosome. Ce chromosome ne permet pas le développement normal des caractères sexuels masculins pendant la puberté. Infertility (can’t have children because they can’t make enough sperm) What Is Klinefelter Syndrome? Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. Deng C, et al. It affects between 1 in 500 and 1 in 1,000 newborn males. While Klinefelter syndrome cannot be cured, some of its symptoms can be improved by testosterone replacement therapy, which restores testosterone levels to normal range. Klinefelter Syndrome, XXY, 47XXY, Trisomy X, 47XYY, 48XXXY, 48XXYY, 49XXXXY, X & Y, infertility, ADHD, ADD, behavior, education, support, testosterone, HRT Accessed Aug. 9, 2019. Chromosome analysis. By adulthood, most males with KS learn to speak and converse normally, although they may have a harder time doing work that involves extensive reading and writing. Make a donation. At birth, most neonates with Klinefelter syndrome (47, XXY) have no dysmorphic or unusual features. Klinefelter syndrome can provide a number of symptoms but are somehow unnoticeable. About 1 out of every 500 men have an extra X chromosome, but not all men have symptoms and signs. Most babies with Klinefelter syndrome do not have noticeable symptoms. Whether an individual having KS will show nearly all the symptoms related to the condition or just a few, depends on the factors mentioned above. The Klinefelter syndrome is a known genetic condition which affects men/boys. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Traitement. Accessed Aug. 9, 2019. In some cases, surgery may be necessary to correct certain symptoms of Klinefelter syndrome, such as abnormal breast tissue. Some common additional symptoms for several poly-X Klinefelter syndromes are listed below. Ferri FF. By james. 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. Genetic and Rare Diseases Information Center. Klinefelter Syndrome - Pictures, Images, Causes, Symptoms, Treatment. 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. Medical Expert. Klinefelter syndrome is a fairly common genetic condition found in males only.. Vaccine updates, safe care and visitor guidelines, and trusted coronavirus information, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Continuous Professional Development, Mayo Clinic School of Graduate Medical Education, Book: Mayo Clinic Family Health Book, 5th Edition, Newsletter: Mayo Clinic Health Letter — Digital Edition, FREE book offer – Mayo Clinic Health Letter. Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. 2019; doi:10.1097/MED.0000000000000454. In April 2011, online rumors surfaced to the effect that billionaire real estate mogul Donald Trump (who was already being spoken of as a potential presidential contender) might be suffering from a genetic disorder known as Klinefelter syndrome. For example, on average, baby boys with KS do not start walking until age 18 months.3. Jun 18, 2019. 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 (KS). Endocrine aspects of Klinefelter syndrome. National Human Genome Research Institute. For men who have signs and symptoms, these often develop during puberty when the testes do not develop as they should. This scenario is far too common, but when Klinefelter syndrome is diagnosed as early as possible, you can get the treatment you need to restore … Accessed Aug. 9, 2019. KS is also called 47, XXY. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. Get the latest research information from NIH: https://www.nih.gov/coronavirus Le syndrome de Klinefelter est une maladie génétique qui n'affecte que les hommes. Without this help or intervention, KS males might fall behind their classmates as schoolwork becomes harder. Accessed Sept. 10, 2019. Most individuals with Klinefelter syndrome are identified though prenatal diagnosis or when the child does not progress through puberty completely or adequately. Symptoms. There is a shallow decline in intelligence, which affects school performance. Cell-free DNA prenatal screen, blood. 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The symptoms of Klinefelter syndrome can vary in severity. In other cases, males with KS may have mild or severe symptoms. The random event is called nondisjunction and the resulting reproductive cell has an abnormal number of chromosomes. It is a condition in boys caused by the presence of an extra X chromosome. Klinefelter syndrome babies are quieter and less demanding than other babies. In Klinefelter syndrome, this differs as a male is born with one extra copy of the X chromosome in each cell (XXY). Learn about Klinefelter syndrome symptoms and signs and the medications that treat it. They help determine what we look like, how large we grow, how smart we are, and even how we think. However, they are more obedient and helpful as compared to the others. Klinefelter syndrome happens when a male is born with an additional X chromosome. The following are the said presenting symptoms of the disease: Symptoms of Klinefelter Syndrome Many men can live with an extra X chromosome and experience no symptoms. Klinefelter syndrome and its variants are not inherited. Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. During the first few years of life, when the need for testosterone is low, most XXY males do not show any obvious differences from typical male infants and young boys. The Guardian newspaper interviewed several men with Klinefelter syndrome. This content does not have an English version. F1000Research. Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. Some teens might withdraw, feel sad, or act out their frustration and anger. Poly-KS males might also show slight differences in other physical features. Merck Manual Professional Version. Males normally have an X and a Y sex chromosome (XY). Small, firm testicles. Individuals with more X chromosomes tend to experience more symptoms. Often, symptoms are subtle and subjects do not realize they are affected. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms. https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/klinefelter-syndrome-47,xxy?query=Klinefelter%20Syndrome. Klinefelter Syndrome Symptoms. Avez-vous besoin de: 15 mythes sur l'infertilité, la FIV et les mythes sur le traitement de la fertilité. Symptoms of Klinefelter Syndrome . Hererra Lizarazo A, et al. L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Not all boys with Klinefelter syndrome will have noticeable symptoms. Le sommaire1 Causes du syndrome de Klinefelter 2 Examens du syndrome de Klinefelter 3 Les symptômes du syndrome de Klinefelter 4 Demander de l’aide médicale 5 Traitement Syndrome de Klinefelter Causes du syndrome de Klinefelter Les humains ont 46 chromosomes. The severity of the symptoms will be based on the deficiency of the mentioned hormone. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'être humain par un chromosome sexuel X supplémentaire. https://www.nichd.nih.gov/health/topics/klinefelter. La maladie de Klinefelter est caractérisée par la présence d'au moins un chromosome X supplémentaire chez les garçons, ce qui entraîne une altération de la puberté chez eux. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. It isn't an inherited condition. Symptoms and Signs. This is a diagram for information about what a 47 XXY individual may have as far as symptoms which can be a part of XXY and possibly Klinefelter Syndrome. Le traitement. While KS individuals have an extra X chromosome making the total number of … Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner’s syndrome. The risk of Klinefelter syndrome isn't increased by anything a parent does or doesn't do. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. Hormone testing. After age 5 years, when compared to typically developing boys, boys with KS may be slightly: Puberty for boys with KS usually starts normally. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. For example- erratic and sparse distribution of hair all across the body, broad and wider hips, and you may also notice an amplified breast size. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. The syndrome may also cause reduce… A person with KS has 47 chromosomes inside their cells instead of the usual 46. This content does not have an Arabic version. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Many physical symptoms of KS result from low testosterone levels in the body. Therefore, a person with Klinefelter syndrome may experience the symptoms after puberty when the testosterone levels start to develop sexual traits in males. Le syndrome de Klinefelter, 47, XXY est un exemple clinique de lésions des chromosomes sexuels. Accessed Aug. 9, 2019. Some may have slightly weaker muscles, meaning they might sit up, crawl, and walk slightly later than average. 2019; doi:10.12688/f1000research.16747.1. As they grow older, they develop into less confident, less active, and shy individuals, who find it difficult to cope up with or fit in with children their age. Accessed Aug. 9, 2019. Pinpoint your symptoms and signs with MedicineNet's Symptom Checker. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. It is essential to note that not every male affected by Klinefelter syndrome show the same effects. https://rarediseases.info.nih.gov/diseases/8705/disease. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: Initial experience in a Chinese hospital. Possible features, which are not always present, may include: Le syndrome de Klinefelter ( KS), également connu sous le nom de 47, XXY est l'ensemble des symptômes qui résultent de deux chromosomes X ou plus chez les hommes. The symptoms of Klinefelter Syndrome in men are as follows: Decrease in Sperm Count or No Sperm; Small Size of Penis And Testicles; Low Sex Drive; Increase in Belly Fat; Enlargement of Breast Tissue; Taller Than Average Height; The Main Diagnostic Tests Are As Follows: Hormone Testing: This test is done by evaluating the hormonal level from the blood or urine samples. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships. Klinefelter’s syndrome has a series of physical traits and characteristic symptoms. When signs and symptoms do occur, Klinefelter syndrome is associated with As a result, these teen boys are at higher risk of depression, substance abuse, and behavioral disorders. Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life.. Klinefelter syndrome. Klinefelter syndrome is one of the leading causes of male infertility. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Other boys can have symptoms that are physically apparent or problems with speech, learning, and development. Current Opinion in Endocrinology, Diabetes and Obesity. Qu'est ce qu'un chromosome. As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys. Contrary to research findings published several decades ago, males with KS are no more likely to have serious psychiatric disorders or to get into trouble with the law.10. For older mothers, the risk is higher but only slightly. © 1998-2020 Mayo Foundation for Medical Education and Research (MFMER). Symptoms of Klinefelter syndrome. The appearance of physical symptoms of Klinefelter Syndrome depends on the level of testosterone in the body. Many boys and men do not realise they have it. In 50% of patients in puberty, gynecomastia is detected. Symptoms and signs include breast development in boys, a small penis, and broader hips than other boys. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). The most common symptom of Klinefelter syndrome is infertility, which often isn't noticed until adulthood. Bearelly P, et al. Their karyotype is 47,XXY.. A child with Klinefelter syndrome presents with muscular weakness, but as the child nears adulthood they tend to have a tall stature. Klinefelter syndrome cannot be cured, but there are a variety of treatments to address the symptoms of Klinefelter syndrome. Ce qui caractérise cette maladie est la présence d’un chromosome X supplémentaire. There may be some who will not manifest symptoms at all. Mayo Clinic Laboratories. Le début du traitement se fait après dosage de la testotérone plasmatique et de la FSH-LH. Advertising revenue supports our not-for-profit mission. Reviewed: Dr. Gromatzky. Klinefelter syndrome (KS) is a genetic condition in which boys are born with an extra copy of the X chromosome (piece of genetic material). In: Ferri's Clinical Advisor 2020. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Where Can I Find Clinical Care Recommendations and Practice Guidelines? The majority of them become evident after puberty. Klinefelter syndrome. In addition to being tall, KS boys may have: An adult male with KS may have these features: In some cases, breast growth can be permanent, and about 10% of XXY males need breast-reduction surgery.6. Often, symptoms may be subtle and many people do not realize they are affected. By adulthood, XXY males look similar to males without the condition, although they are often taller. The effects of having an additional chromosome are abnormalities in the normal development of the body, hypogonadism, and male infertility. Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. La figure: montre un résumé des principales manifestations cliniques du syndrome de Klinefelter. Many men can live with an extra X chromosome and experience no symptoms. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Klinefelter syndrome signs and symptoms. Mayo Clinic does not endorse companies or products. Klinefelter syndrome (KS), also known as XXY syndrome, is a genetic cause of male infertility.Children born with this genetic disease have an extra X chromosome, hence the name. Most males with KS have normal intelligence quotients (IQs)7,8 and successfully complete education at all levels. 10 Symptoms of Klinefelter Syndrome. Mayo Clinic; 2019. Le Syndrome de Klinefelter . Advertisement. Klinefelter syndrome. https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome. Some people may have quite a few symptoms, while others might not have any that are obvious. Most men with Klinefelter syndrome lead the same sort of lives as everybody else. Sept. 10, 2019. One of the earliest signs of Klinefelter syndrome is a delay in learning and speaking. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. More About Us. Often it is only at puberty that these symptoms are noticed. Infertility: Nearly all men with KS are unable to father a biologically-related child without help from a fertility specialist. Symptoms Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. 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