Having abnormal body proportions. To diagnose Klinefelter syndrome, your doctor will start with a physical exam and questions about your symptoms … Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. (This can include being too tall, having long legs and a short trunk and the shoulders being equal to hips in size rather than wider, which is more typical in a male.) 2019; doi:10.12688/f1000research.16747.1. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. This content does not have an English version. Klinefelter syndrome (KS). What are the symptoms of the XXY condition? This can lead to a taller, less muscular body, less facial and body hair, and broader hips than other boys. Possible features, which are not always present, may include: See also disease and sickness. The XXY chromosome pattern cannot be changed. https://www.nichd.nih.gov/health/topics/klinefelter. Genetic and Rare Diseases Information Center. It is by sheer bad luck that one has to lead a life with a permanent physical disability. Most XXY males are infertile because their bodies don't make a lot of sperm. Young boys with Klinefelter syndrome might have: © 1996-2021 MedicineNet, Inc. All rights reserved. It isn't an inherited condition. After about age four, XXY males tend to be taller and may have less muscle control and coordination than other boys their age. Mayo Clinic facts about coronavirus disease 2019 (COVID-19), Our COVID-19 patient and visitor guidelines, plus trusted health information, Mayo Clinic Health System patient vaccination updates, 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, New Year Special -  40% off – Mayo Clinic Diet Online. Often, symptoms are subtle and subjects do not realize they are affected. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Deng C, et al. Klinefelter syndrome (47,XXY). Cell-free DNA prenatal screen, blood. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: Initial experience in a Chinese hospital. XXY adult males look similar to males without the condition, although they are often taller and may have autoimmune disorders, XXY males can have normal sex lives, but they usually make little or no sperm and are. MedicineNet does not provide medical advice, diagnosis or treatment. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome affects around 1 in every 660 males. Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. By adulthood, XXY males look similar to males without the condition, although they are often taller. Accessed Aug. 9, 2019. Poly-KS males might also show slight differences in other physical features. syndrome [sin´drōm] a combination of symptoms resulting from a single cause or so commonly occurring together as to constitute a distinct clinical picture. Symptoms of Klinefelter syndrome. They may sit up, crawl, and walk later than other infants. It affects between 1 in 500 and 1 in 1,000 newborn males. As they get older, they are usually quieter, less self-confident, less active, and more helpful and obedient than other boys. 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. Hererra Lizarazo A, et al. 2019; doi:10.1038/s41598-019-44018-4. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. The XXY condition that causes Klinefelter syndrome … For others, the condition has a noticeable effect on growth or appearance. The condition may go undiagnosed until adulthood or it may never be diagnosed. Accessed Sept. 10, 2019. Klinefelter syndrome. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. They may struggle in school and sports, meaning they may have more trouble "fitting in" with other kids. Mayo Clinic does not endorse companies or products. MALABSORPTION SYNDROME: Impaired absorption of dietary substance -----> diarrhea, weakness, weight loss, or symptoms from specific deficiencies. Scientific Reports. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor … As babies, XXY males tend to be quiet and undemanding. https://www.mayocliniclabs.com/test-catalog/Clinical+and+Interpretive/63439. Most babies with Klinefelter syndrome do not have noticeable symptoms. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. Symptoms of Poly-X KS 11. Females have two X sex chromosomes (XX). This content does not have an Arabic version. Latest on COVID-19 vaccination by site: 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. Down Syndrome Causes and Symptoms. Edwards syndrome is a genetic disorder, in which a person has a third copy of material from chromosome 18, instead of the usual two copies. © 1998-2021 Mayo Foundation for Medical Education and Research (MFMER). Many boys with Klinefelter syndrome show few or only mild signs. It is three … But, there are a variety of ways to treat the symptoms of the XXY condition. Make a donation. Klinefelter syndrome stems from a random genetic event. One such unfortunate condition is the Klinefelter syndrome. Accessed Aug. 9, 2019. As teens, XXY males may have larger breasts, weaker bones, and a lower energy level than other boys. Symptoms depend on how many XXY cells a man has, how much testosterone is in his body, and his age when the condition is diagnosed. In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. Klinefelter syndrome is named after Dr. Henry Klinefelter, who first described a group of symptoms found in some men with the extra X chromosome. The most common symptom is infertility . Schedule your appointment now for safe in-person care. The risk of Klinefelter syndrome isn't increased by anything a parent does or doesn't do. This site complies with the HONcode standard for trustworthy health information: verify here. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. About Klinefelter syndrome. As teens, XXY males tend to be quiet and shy. BARRETT SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in metaplasia of esophageal columnar epithelium ------> squamous epithelium. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. Klinefelter syndrome symptoms. Symptoms. For specific syndromes, see under the name, such as adrenogenital syndrome or reye's syndrome. "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. It is also known as the XXY syndrome. Current Opinion in Endocrinology, Diabetes and Obesity. Advertising revenue supports our not-for-profit mission. As babies, many XXY males have weak muscles and reduced strength. Some people are affected only very mildly, while for others it has more of an impact on their lives. https://rarediseases.info.nih.gov/diseases/8705/disease. The XXY condition can affect three main areas of development 1) physical, 2) language, and 3) social. ©1996-2021 MedicineNet, Inc. All rights reserved. The syndrome can affect different stages of physical, language, and social development. This is a genetic abnormality which occurs in males mostly. Klinefelter syndrome (47, XXY) is a condition that occurs in men who have an extra X chromosome, resulting in an XXY sex chromosome karyotype. Puberty is a time of rapid physical and psychological change, and … Elsevier; 2020. https://www.clinicalkey.com. Drugs A-Z. Human cells usually contain two sex chromosomes, one from the mother and one from the father. https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome. Inheriting genetic diseases is not in the hands of anyone. A single copy of these materials may be reprinted for noncommercial personal use only. See additional information. Klinefelter Syndrome Diagnosis. XXY males can have normal sex lives, but they usually make little or no sperm. It's important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated. Treatments involve physical, speech, occupational, behavioral. Recent advances in managing and understanding Klinefelter syndrome. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms. Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. As boys, it is not uncommon for XXY males have some kind of language problem, such as learning to talk late, trouble using language to express thoughts and needs, problems reading, and trouble processing what they hear. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. 2 It is especially helpful to begin treatment by early puberty. Eunice Kennedy Shriver National Institute of Child Health and Human Development. F1000Research. MedicineNet does not provide medical advice, diagnosis or treatment. Most men with Klinefelter syndrome lead the same sort of lives as everybody else. Symptoms. Merck Manual Professional Version. As adults, XXY males may have a harder time doing work that involves reading and writing, but most hold jobs and have successful careers. 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. Because not every male with an XXY pattern has all the symptoms of Klinefelter syndrome, it is common to use the term XXY male to describe these men, or XXY condition to describe the symptoms. Klinefelter syndrome may increase the risk of: A number of complications caused by Klinefelter syndrome are related to low testosterone (hypogonadism). Klinefelter syndrome. Medically reviewed by Edward Spence, MD; American Board of Pediatrics and American Board of Medical Genetics with subspecialties in Clinical Genetics, Clinical Biochemical Genetics, Clinical Molecular Genetics. 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. Signs and symptoms of Klinefelter syndrome also vary by age. Accessed Aug. 9, 2019. The XXY chromosome pattern can not be changed. Extra copies of genes on the X chromosome can interfere with male sexual development and fertility. All rights reserved. As XXY males enter puberty, they often don't make as much testosterone as other boys. https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-anomalies/klinefelter-syndrome-47,xxy?query=Klinefelter%20Syndrome. Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall stature, and abnormal body proportions (long legs, short trunk). For others, the condition has a noticeable effect on growth or appearance. Sept. 10, 2019. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Testosterone replacement therapy reduces the risk of certain health problems, especially when therapy is started at the beginning of puberty. Accessed Aug. 9, 2019. Ferri FF. Wick MJ (expert opinion). Endocrine aspects of Klinefelter syndrome. Receive personalized insights on your symptoms and treatment effectiveness with our interactive Health Chats. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. XXYY syndrome; Other names: 48,XXYY Klinefelter syndrome: XXYY syndrome: XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic. Klinefelter syndrome is a fairly common genetic condition found in males only. Klinefelter syndrome is one of the most common chromosome conditions in newborns. Genetics Home Reference. Accessed Aug. 9, 2019. The syndrome can affect different stages of language, physical, and social development. One of the most important factors for all types of treatment is starting it as early in life as possible. 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. 1 The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. Accessed Aug. 9, 2019. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Not all males with the condition have the same symptoms or to the same degree. Mayo Clinic is a not-for-profit organization. Mayo Clinic; 2019. Terms of Use. Klinefelter syndrome. They are also more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Mayo Clinic. The condition may go undiagnosed until adulthood or it may never be diagnosed. For older mothers, the risk is higher but only slightly. 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. AskMayoExpert. Many boys and men do not realise they have it. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Many boys with Klinefelter syndrome show few or only mild signs. Scientists believe the XXY condition is one of the most common chromosome abnormalities in humans. 2019; doi:10.1097/MED.0000000000000454. Symptoms About one of every 500 males has an extra X chromosome, but many don't have any symptoms. National Human Genome Research Institute. Rank It. Symptoms depend on how many XXY cells a man has, how much testosterone is in his body, and his age when the condition is diagnosed. What are the treatments for the XXY condition? 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. Look up uses, dosages, side effects, interactions and more for thousands of prescription and generic medications. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome.Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. It is estimated that 3,000 affected boys are born each year in the US. However, as adults, XXY males live lives similar to men without the condition; they have friends, families, and normal social relationships. Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. Bearelly P, et al. In: Ferri's Clinical Advisor 2020. Physical symptoms of Klinefelter syndrome include: Being born with a smaller penis, and/or undescended testicle(s). Mayo Clinic Laboratories. Down syndrome is a genetic disorder in which, most often, a third copy of chromosome 21 is present in cells because of an abnormal cell division when the egg and sperm first meet. Males have an X and a Y sex chromosome (XY). About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. 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