Many boys and men do not realise they have it. The syndrome may also cause reduce… Signs and symptoms of Klinefelter syndrome also vary by age. KS symptoms fall into these main categories: Many physical symptoms of KS result from low testosterone levels in the body. While KS individuals have an extra X chromosome making the total number of … https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/63439. While symptoms start emerging in some males much before puberty, most of them are affected when they reach their teens. Klinefelter syndrome refers to a group of chromosomal disorders in which there is an extra X chromosome. For men who have signs and symptoms, these often develop during puberty when the testes do not develop as they should. Il a été décrit cliniquement pour la première fois par Kleinfelter en 1942. The symptoms of Klinefelter syndrome can vary in severity. Klinefelter's Syndrome (KS) is a sex chromosomal disorder like Turner’s syndrome. In most cases, what brings patients to the doctor is a combination of gynecomastia, infertility, and other symptoms of hypogonadism. Les messages . L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Klinefelter syndrome may increase the risk of: A number of complications caused by Klinefelter syndrome are related to low testosterone (hypogonadism). Le Syndrome de Klinefelter . Scientific Reports. Without this help or intervention, KS males might fall behind their classmates as schoolwork becomes harder. Signes cliniques. They help determine what we look like, how large we grow, how smart we are, and even how we think. Klinefelter syndrome cannot be cured, but there are a variety of treatments to address the symptoms of Klinefelter syndrome. Accessed Aug. 9, 2019. Klinefelter syndrome symptoms. Some teens might withdraw, feel sad, or act out their frustration and anger. Recent advances in managing and understanding Klinefelter syndrome. Sept. 10, 2019. Les messages. https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome. That explains why the condition is diagnosed late. Accessed Aug. 9, 2019. Poly-KS males might also show slight differences in other physical features. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). Most men with Klinefelter syndrome lead the same sort of lives as everybody else. Females have two X sex chromosomes (XX). 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 … Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. Jun 18, 2019. It is essential to note that not every male affected by Klinefelter syndrome show the same effects. Le syndrome de Klinefelter. The Klinefelter syndrome is a known genetic condition which affects men/boys. Klinefelter Syndrome (xxy syndrome) Symptoms, Causes, Treatment. Some people are affected only very mildly, while for others it has more of an impact on their lives. It is relatively common, occurring in about 1 of every 500 baby boys. Individuals with Klinefelter syndrome tend to have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention-deficit/hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning). https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/klinefelter-syndrome-47,xxy?query=Klinefelter%20Syndrome. 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. Le syndrome de Klinefelter concerne la présence d’un chromosome X humain en supplément. Individuals with more X chromosomes tend to experience more symptoms. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic. Avez-vous besoin de: 15 mythes sur l'infertilité, la FIV et les mythes sur le traitement de la fertilité. Even while looking at a male who is suffering from the Klinefelter syndrome, you may not observe any such symptoms which might distinguish him; there are some symptoms that set them apart. Klinefelter syndrome is a chromosomal condition in which males have an extra X chromosome affecting their sexual development. Symptoms and Signs Klinefelter Syndrome predominantly affects the reproductive system in males, causing hypogonadism, infertility, and low libido. When signs and symptoms do occur, Klinefelter syndrome is associated with 2019; doi:10.1097/MED.0000000000000454. In some cases, surgery may be necessary to correct certain symptoms of Klinefelter syndrome, such as abnormal breast tissue. Therefore, a person with Klinefelter syndrome may experience the symptoms after puberty when the testosterone levels start to develop sexual traits in males. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. In other cases, males with KS may have mild or severe symptoms. They successfully complete high school, college, and other levels of education. The primary features are infertility and small poorly functioning testicles. The condition may go undiagnosed until adulthood or it may never be diagnosed. The most common symptom of Klinefelter syndrome is infertility, which often isn't noticed until adulthood. Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships. Le début du traitement se fait après dosage de la testotérone plasmatique et de la FSH-LH. Les principales caractéristiques sont l' infertilité et les petits testicules qui fonctionnent mal . Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Traitement. Accessed Aug. 9, 2019. There are two general types of symptoms — physical and intellectual. Genetics Home Reference. Variants of … 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. These individuals may experience more severe signs and symptoms. Often, symptoms are subtle and subjects do not realize they are affected. In: Ferri's Clinical Advisor 2020. A person with KS has 47 chromosomes inside their cells instead of the usual 46. The condition only affects males. But because their bodies make less testosterone than non-KS boys, their pubertal development may be disrupted or slow. Klinefelter syndrome adversely affects … Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? Klinefelter syndrome is a fairly common genetic condition found in males only.. 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. Klinefelter Syndrome predominantly affects the reproductive system in males, causing hypogonadism, infertility, and low libido. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. The appearance of physical symptoms of Klinefelter Syndrome depends on the level of testosterone in the body. Symptoms of Klinefelter Syndrome Many men can live with an extra X chromosome and experience no symptoms. More About Us. 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 Most men with Klinefelter syndrome lead the same sort of lives as everybody else. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Klinefelter’s Syndrome Symptoms. Symptoms and signs include breast development in boys, a small penis, and broader hips than other boys. The primary features are infertility and small poorly functioning testicles. As adults, most men with KS have lives similar to those of men without KS. Some may have slightly weaker muscles, meaning they might sit up, crawl, and walk slightly later than average. Advertising revenue supports our not-for-profit mission. All rights reserved. KS males may experience some of the following learning and language-related challenges:9. Medical Expert. Get the latest research information from NIH: https://www.nih.gov/coronavirus Most males with KS have normal intelligence quotients (IQs)7,8 and successfully complete education at all levels. "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. What Is Klinefelter Syndrome? Accessed Aug. 9, 2019. 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. Wick MJ (expert opinion). 2019; doi:10.1038/s41598-019-44018-4. Having abnormal body proportions. Mayo Clinic. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. By james. Klinefelter syndrome is the most common chromosomal cause of primary hypogonadism and infertility in males. For older mothers, the risk is higher but only slightly. Klinefelter syndrome (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 can provide a number of symptoms but are somehow unnoticeable. About Klinefelter syndrome. The random event is called nondisjunction and the resulting reproductive cell has an abnormal number of chromosomes. 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. 10 Symptoms of Klinefelter Syndrome. Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. 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. Chromosome analysis. Boys with KS, compared to typically developing boys, tend to be: In the teenage years, boys with KS may feel their differences more strongly. They have successful and meaningful careers and professions. Mayo Clinic is a not-for-profit organization. Most only learned about their condition when they and their partners were experiencing fertility problems. The severity of symptoms depends on how many X chromosomes are present. 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. Some common additional symptoms for several poly-X Klinefelter syndromes are listed below. (This can include being too tall, having long legs and a short … Common symptoms reported by people with Klinefelter syndrome Small, firm testicles. Their karyotype is 47,XXY.. Mayo Clinic; 2019. Not all boys with Klinefelter syndrome will have noticeable symptoms. Endocrine aspects of Klinefelter syndrome. 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. Hormone testing. In 50% of patients in puberty, gynecomastia is detected. Many men can live with an extra X chromosome and experience no symptoms. In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome. Accessed Sept. 10, 2019. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Merck Manual Professional Version. Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is … Get the latest public health information from CDC: https://www.coronavirus.gov Le syndrome de Klinefelter, 47, XXY est un exemple clinique de lésions des chromosomes sexuels. 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