klinefelter syndrome symptoms

Merck Manual Professional Version. There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys. What is 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. Klinefelter syndrome occurse due to a random event when the reproductive cells (eggs and sperm) are forming in the parent. Les principales caractéristiques sont l' infertilité et les petits testicules qui fonctionnent mal . ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Most men with Klinefelter syndrome lead the same sort of lives as everybody else. This can lead to a taller, less muscular body, less facial and body hair, and broader hips than other boys. (This can include being too tall, having long legs and a short … Our genes help make up the blueprint for who we are. Klinefelter’s syndrome has a series of physical traits and characteristic symptoms. Most babies with Klinefelter syndrome do not have noticeable symptoms. The severity of symptoms depends on how many X chromosomes are present. Females have two X sex chromosomes (XX). Genetics Home Reference. Males have an X and a Y sex chromosome (XY). Advertising revenue supports our not-for-profit mission. 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. Traitement. Ferri FF. © 1998-2020 Mayo Foundation for Medical Education and Research (MFMER). It affects between 1 in 500 and 1 in 1,000 newborn males. Often, symptoms may be subtle and many people do not realize they are affected. A single copy of these materials may be reprinted for noncommercial personal use only. Klinefelter Syndrome (xxy syndrome) Symptoms, Causes, Treatment. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Klinefelter syndrome is a chromosomal condition in which males have an extra X chromosome affecting their sexual development. Most men with Klinefelter syndrome lead the same sort of lives as everybody else. 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. The symptoms of Klinefelter syndrome can vary in severity. Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. This content does not have an Arabic version. The risk of Klinefelter syndrome isn't increased by anything a parent does or doesn't do. Symptoms and signs include breast development in boys, a small penis, and broader hips than other boys. Mayo Clinic Laboratories. Most males with KS have normal intelligence quotients (IQs)7,8 and successfully complete education at all levels. In: Ferri's Clinical Advisor 2020. Physical symptoms are those that impact the body. 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. Le Syndrome de Klinefelter . Klinefelter Syndrome predominantly affects the reproductive system in males, causing hypogonadism, infertility, and low libido. Some men with KS have no symptoms of the condition or are only mildy affected. Accessed Aug. 9, 2019. L'individu est alors de caractère masculin, mais infertile.Sa formule chromosomique s'écrit «47,XXY ». Les messages. Klinefelter syndrome. 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. Common symptoms reported by people with Klinefelter syndrome Some people are affected only very mildly, while for others it has more of an impact on their lives. 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. https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome. At birth, Klinefelter syndrome is not clinically manifested. Accessed Sept. 10, 2019. Accessed Aug. 9, 2019. Accessed Aug. 9, 2019. 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. Males with this condition typically have small testes that do not produce enough testosterone. Signs and symptoms of Klinefelter syndrome also vary by age. The signs and symptoms of Klinefelter syndrome vary from person to person. 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. Many men can live with an extra X chromosome and experience no symptoms. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: Initial experience in a Chinese hospital. Approximately 3% of all infertile men have Klinefelter syndrome and 14% of non-obstructive azoospermic men have Klinefelter syndrome. At birth, most neonates with Klinefelter syndrome (47, XXY) have no dysmorphic or unusual features. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. 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 … Most only learned about their condition when they and their partners were experiencing fertility problems. Symptoms and Signs. Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. 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 ! Le syndrome de Klinefelter est une anomalie des chromosomes sexuels relativement fréquente (1 garçon sur 500). Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? (IQ is a frequently used intelligence measure, but does not include emotional, creative, or other types of intelligence.) Many boys and men do not realise they have it. By james. Klinefelter syndrome can provide a number of symptoms but are somehow unnoticeable. The severity of the symptoms will be based on the deficiency of the mentioned hormone. Mayo Clinic. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. The primary features are infertility and small poorly functioning testicles. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms. More About Us. … Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems.… Klinefelter Syndrome (Klinefelters Syndrome): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Variants of … L'individu présente alors deux chromosomes X et un chromosome Y, soit 47 chromosomes au lieu de 46. Klinefelter syndrome. 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Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is … Accessed Aug. 9, 2019. Le syndrome de Klinefelter, 47, XXY est un exemple clinique de lésions des chromosomes sexuels. While KS individuals have an extra X chromosome making the total number of … However, they are more obedient and helpful as compared to the others. 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. Natural History: Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. 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 vous souhaitez en parler, rejoignez-nous ! Some of the symptoms of Klinefelter syndrome include small testicles, low production of testosterone, enlarged breast tissue, reduced muscle mass, and facial hair. https://rarediseases.info.nih.gov/diseases/8705/disease. Most of the symptoms of Klinefelter syndrome occur as a result of low testosterone in the body. The following are the said presenting symptoms of the disease: The syndrome may also cause reduce… They have successful and meaningful careers and professions. Klinefelter syndrome is a genetic condition in which a boy is born with an extra sex chromosome. A person with KS has 47 chromosomes inside their cells instead of the usual 46. 2019; doi:10.1097/MED.0000000000000454. Their karyotype is 47,XXY.. Le début du traitement se fait après dosage de la testotérone plasmatique et de la FSH-LH. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships. Mayo Clinic is a not-for-profit organization. Klinefelter syndrome happens when a male is born with an additional X chromosome. Le syndrome de Klinefelter est une maladie génétique qui n'affecte que les hommes. Where Can I Find Clinical Care Recommendations and Practice Guidelines? By adulthood, XXY males look similar to males without the condition, although they are often taller. Small, firm testicles. Physical Symptoms. Klinefelter syndrome. Extra copies of genes on the X chromosome can interfere with male sexual development and fertility. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Make a donation. The random event is called nondisjunction and the resulting reproductive cell has an abnormal number of chromosomes. Klinefelter syndrome refers to a group of chromosomal disorders in which there is an extra X chromosome. 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 may increase the risk of: A number of complications caused by Klinefelter syndrome are related to low testosterone (hypogonadism). There are quite a lot of clinical options related to abnormalities of sexual status and somatic disorders in Klinefelter syndrome. Young boys with Klinefelter syndrome might have: Cell-free DNA prenatal screen, blood. Klinefelter syndrome babies are quieter and less demanding than other babies. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. 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. For older mothers, the risk is higher but only slightly. Accessed Aug. 9, 2019. In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome. Klinefelter syndrome is caused by an additional X chromosome in males (47,XXY). 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. The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available. Get the latest research information from NIH: https://www.nih.gov/coronavirus Poly-KS males might also show slight differences in other physical features. 2. Klinefelter’s Syndrome Symptoms. Les messages . This results in smaller-sized testicles, low testosterone levels, and possibly infertility. That explains why the condition is diagnosed late. Klinefelter syndrome stems from a random genetic event. Ce chromosome ne permet pas le développement normal des caractères sexuels masculins pendant la puberté. It is relatively common, occurring in about 1 of every 500 baby boys. Endocrine aspects of Klinefelter syndrome. Symptoms While symptoms start emerging in some males much before puberty, most of them are affected when they reach their teens. KS symptoms fall into these main categories: Many physical symptoms of KS result from low testosterone levels in the body. In most cases, what brings patients to the doctor is a combination of gynecomastia, infertility, and other symptoms of hypogonadism. Current Opinion in Endocrinology, Diabetes and Obesity. Treatment may include: Testosterone replacement: About half of people with … Some common additional symptoms for several poly-X Klinefelter syndromes are listed below. Symptoms. They help determine what we look like, how large we grow, how smart we are, and even how we think. The effects of having an additional chromosome are abnormalities in the normal development of the body, hypogonadism, and male infertility. F1000Research. Pinpoint your symptoms and signs with MedicineNet's Symptom Checker. Infertility (can’t have children because they can’t make enough sperm) Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. But because their bodies make less testosterone than non-KS boys, their pubertal development may be disrupted or slow. 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. Nondisjunction is often … In other cases, males with KS may have mild or severe symptoms. These individuals may experience more severe signs and symptoms. National Human Genome Research Institute. The most common symptom of Klinefelter syndrome is infertility, which often isn't noticed until adulthood. What Is Klinefelter Syndrome? As adults, most men with KS have lives similar to those of men without KS. 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. All rights reserved. Elsevier; 2020. https://www.clinicalkey.com. 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. This site complies with the HONcode standard for trustworthy health information: verify here. Le syndrome de Klinefelter ou 47,XXY est une aneuploïdie qui se caractérise chez l'être humain par un chromosome sexuel X supplémentaire. 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 treatment costs can run into the thousands if surgery or repeated treatments are needed. 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. In fact, men may be first diagnosed when they are in their 20s, 30s, or older, when an infertility workup discovers the syndrome. 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. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. Klinefelter syndrome (KS) is a genetic condition in which boys are born with an extra copy of the X chromosome (piece of genetic material). Klinefelter syndrome adversely affects … In this condition, males have low levels of testosterone. 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. In some cases, surgery may be necessary to correct certain symptoms of Klinefelter syndrome, such as abnormal breast tissue. Klinefelter Syndrome Symptoms. As a result, these teen boys are at higher risk of depression, substance abuse, and behavioral disorders. Most men with Klinefelter syndrome produce little or no sperm, but assisted reproductive procedures may make it possible for some men with Klinefelter syndrome to father children. Scientific Reports. Some people may have quite a few symptoms, while others might not have any that are obvious. Mayo Clinic does not endorse companies or products. Le syndrome de Klinefelter concerne la présence d’un chromosome X humain en supplément. Reviewed: Dr. Gromatzky. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Sept. 10, 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), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. The primary features are infertility and small poorly functioning testicles. Klinefelter Syndrome Symptoms. 2019; doi:10.12688/f1000research.16747.1. Advertisement. 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. Many boys with Klinefelter syndrome show few or only mild signs. Le traitement. They successfully complete high school, college, and other levels of education. Klinefelter syndrome signs and symptoms. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Many physical symptoms of KS result from low testosterone levels in the body. Symptoms of Klinefelter Syndrome . Il a été décrit cliniquement pour la première fois par Kleinfelter en 1942. Genetic and Rare Diseases Information Center. Klinefelter syndrome symptoms. Recent advances in managing and understanding Klinefelter syndrome. Level of testosterone % 20Syndrome diagnosed until adulthood or it may never be diagnosed males, and male.... Adulthood or it may never be diagnosed they might sit up, crawl, and slightly... There is a condition in boys caused by an additional X chromosome, but not all boys with syndrome... 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