KS symptoms fall into these main categories: Many physical symptoms of KS result from low testosterone levels in the body. Klinefelter syndrome symptoms. Jun 18, 2019. For example, on average, baby boys with KS do not start walking until age 18 months.3. Endocrine aspects of Klinefelter syndrome. Most babies with Klinefelter syndrome do not have noticeable symptoms. Ce qui caractérise cette maladie est la présence d’un chromosome X supplémentaire. Klinefelter syndrome is one of the most common chromosome conditions in newborns. Get the latest research information from NIH: https://www.nih.gov/coronavirus Le syndrome de Klinefelter, 47, XXY est un exemple clinique de lésions des chromosomes sexuels. 2019; doi:10.12688/f1000research.16747.1. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Slow motor development — taking longer than average to sit up, crawl and walk, Problems at birth, such as testicles that haven't descended into the scrotum, Longer legs, shorter torso and broader hips compared with other boys, After puberty, less muscle and less facial and body hair compared with other teens, Difficulty expressing thoughts and feelings or socializing, Problems with reading, writing, spelling or math, One extra copy of the X chromosome in each cell (XXY), the most common cause, An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms, More than one extra copy of the X chromosome, which is rare and results in a severe form, Social, emotional and behavioral problems, such as low self-esteem, emotional immaturity and impulsiveness, Infertility and problems with sexual function, Metabolic syndrome, which includes type 2 diabetes, high blood pressure (hypertension), and high cholesterol and triglycerides (hyperlipidemia), Autoimmune disorders such as lupus and rheumatoid arthritis, Tooth and oral problems that make dental cavities more likely. While KS individuals have an extra X chromosome making the total number of … Testosterone replacement therapy reduces the risk of certain health problems, especially when therapy is started at the beginning of puberty. Infertility (can’t have children because they can’t make enough sperm) Klinefelter syndrome (KS). Klinefelter Syndrome (xxy syndrome) Symptoms, Causes, Treatment. 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. The condition only affects males. This site complies with the HONcode standard for trustworthy health information: verify here. When signs and symptoms do occur, Klinefelter syndrome is associated with 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. Klinefelter syndrome and its variants are not inherited. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. It is essential to note that not every male affected by Klinefelter syndrome show the same effects. It affects between 1 in 500 and 1 in 1,000 newborn males. Klinefelter syndrome happens when a male is born with an additional X chromosome. NIH staff guidance on coronavirus (NIH Only): https://employees.nih.gov/pages/coronavirus/, Because XXY males do not really appear different from other males and because they may not have any or have mild symptoms, XXY males often don't know they have KS.1,2. Medical Expert. Forum Francophone ouvert aux porteurs du syndrome de klinefelter, mais aussi aux parents de porteurs, conjointes/conjoints et proches et aux professions médicales qui souhaitent en savoir plus sur le sujet Messieurs, si vous avez le syndrome et que votre caryotype est : 47 XXY ou 47 XXY, 46 XY et que vous souhaitez en parler, rejoignez-nous ! All rights reserved. Chromosome analysis. Ce chromosome ne permet pas le développement normal des caractères sexuels masculins pendant la puberté. Klinefelter syndrome babies are quieter and less demanding than other babies. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Advertising revenue supports our not-for-profit mission. The most common symptom of Klinefelter syndrome is infertility, which often isn't noticed until adulthood. Les principales caractéristiques sont l' infertilité et les petits testicules qui fonctionnent mal . 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. Common symptoms reported by people with Klinefelter syndrome Klinefelter syndrome is a genetic condition in which a boy is born with an extra sex chromosome. Le début du traitement se fait après dosage de la testotérone plasmatique et de la FSH-LH. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). There are two general types of symptoms — physical and intellectual. Bearelly P, et al. One of the earliest signs of Klinefelter syndrome is a delay in learning and speaking. That explains why the condition is diagnosed late. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. More About Us. A person with KS has 47 chromosomes inside their cells instead of the usual 46. But because their bodies make less testosterone than non-KS boys, their pubertal development may be disrupted or slow. Deng C, et al. Therefore, a person with Klinefelter syndrome may experience the symptoms after puberty when the testosterone levels start to develop sexual traits in males. The condition may go undiagnosed until adulthood or it may never be diagnosed. In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome. Qu'est ce qu'un chromosome. 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. Mayo Clinic; 2019. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms. Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. The following are the said presenting symptoms of the disease: There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. KS is also called 47, XXY. Souvent, les symptômes sont subtils et les sujets ne se rendent pas compte qu'ils sont affectés. Most of the symptoms of Klinefelter syndrome occur as a result of low testosterone in the body. Klinefelter Syndrome - Pictures, Images, Causes, Symptoms, Treatment. In other cases, males with KS may have mild or severe symptoms. Symptoms of Klinefelter syndrome Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Physical Symptoms. Klinefelter syndrome (47,XXY). "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. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. (This can include being too tall, having long legs and a short … Small, firm testicles. It isn't an inherited condition. Mayo Clinic is a not-for-profit organization. Learn about Klinefelter syndrome symptoms and signs and the medications that treat it. Ferri FF. 2. In this condition, males have low levels of testosterone. Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. Mayo Clinic. Treatment may include: Testosterone replacement: About half of people with … Symptoms and Signs Klinefelter Syndrome predominantly affects the reproductive system in males, causing hypogonadism, infertility, and low libido. Males have an X and a Y sex chromosome (XY). The most characteristic symptom of Klinefelter syndrome is hypoplasia of the testes and the penis (hypogonadism and hypogenitalism). Their karyotype is 47,XXY.. 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. While Klinefelter syndrome cannot be cured, some of its symptoms can be improved by testosterone replacement therapy, which restores testosterone levels to normal range. In some cases, surgery may be necessary to correct certain symptoms of Klinefelter syndrome, such as abnormal breast tissue. They help determine what we look like, how large we grow, how smart we are, and even how we think. Not all boys with Klinefelter syndrome will have noticeable symptoms. 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. 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. What are common symptoms of Klinefelter syndrome (KS)? Signes cliniques. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships. 10 Symptoms of Klinefelter Syndrome. Klinefelter Syndrome Symptoms. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. 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 effects of having an additional chromosome are abnormalities in the normal development of the body, hypogonadism, and male infertility. Klinefelter syndrome. A child with Klinefelter syndrome presents with muscular weakness, but as the child nears adulthood they tend to have a tall stature. The risk of Klinefelter syndrome isn't increased by anything a parent does or doesn't do. Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? 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