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. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. We want to hear from you. 2. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). It is estimated that 1 in every 500 to 1,000 newborn males has an extra X chromosome, making Klinefelter syndrome one of the most common chromosomal disorders seen among newborns. Klinefelter syndrome is a common genetic where a male is born with an extra X chromosome. There are 2 types of chromosome, called the … The syndrome can affect different stages of physical, language, and social development. Inclusion on this list is not an endorsement by GARD. The in-depth resources contain medical and scientific language that may be hard to understand. She had a look mixed from both genders. In this procedure, a small blood sample is drawn. 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). http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx, http://ghr.nlm.nih.gov/condition=klinefeltersyndrome, http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm, http://emedicine.medscape.com/article/945649-overview, http://rarediseases.org/rare-diseases/klinefelter-syndrome/, http://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Boys may be taller than other boys their age, with more fat around the belly. Chromosome analysis. She was rumored to have a rare genetic disorder which gave her an advantage in sports over the others, but it was later diagnosed as klinefelter’s syndrome. The percentage of cells containing the extra chromosome varies from case to case. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Klinefelter Syndrome Klinefelter syndrome is one of the genetic disorders in males. Physiologically, males inherit one X … Enter your email address to receive updates about the latest advances in genomics research. In some instances, XY/XXY mosaics may have enough normally functioning cells in the testes to allow them to father children. Typically, a male has one X and one Y chromosome. A horizontal pattern on … If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311, Babies with the 47, XXY form of Klinefelter differ little from healthy children. This famous athlete was born as a female in South Africa. Several forms of therapy such as physical, speech, occupational, behavioral, mental health, and family therapy can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence. Many men who have Klinefelter syndrome do not have obvious symptoms. Also Refer: Mendelian Disorders in Humans Let us learn more details about the Klinefelter syndrome, its causes, symptoms and available treatment. Do you have updated information on this disease? Do you know of a review article? Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. The diagnosis may also be considered in the adolescent male when puberty is not progressing as expected. The additional sex chromosome results from a random error during the formation of the egg or sperm. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. d) Klinefelter’s syndrome 6. School-age children may be diagnosed if they are referred to a doctor to evaluate learning disabilities. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. She won the Olympic Gold medal for her country in the year 2016. The results of one study on non-. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontolog y , 105 (5), 670-677. Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. Most men who have Klinefelter syndrome can expect to have a normal and productive life. The most common symptom is infertility. Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender. (This is written as XX.) About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. What are the symptoms? In this variation, some of the cells in the male's body have an additional X chromosome, and the rest have the normal XY chromosome count. Genetics Education Materials for School Success (GEMSS), National Human Genome Research Institute's. Klinefelter syndrome is a frequent cause of hypogonadism, but despite hundreds of publications on different aspects of Klinefelter syndrome, only a few studies dealt with sexual dysfunction. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. Chromosomes are packages of genes found in every cell in the body. Causes Of Klinefelter Syndrome. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair, and may also increase sexual desire, enlarge the. So, parents who have a child with Klinefelter syndrome are not any more likely than other couples to have another child with the condition. Klinefelter syndrome, also known as XXY syndrome, is a genetic disorder that involves an additional X sex chromosome in males. Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. A man has enlarged breasts, spare hair on body and sex complement as XXY. Klinefelter syndrome can be diagnosed using genetic testing prenatally or later. Because Klinefelter syndrome is a genetic disorder, it cannot be prevented. Males have an X and a Y chromosome (written as XY). Variants of Klinefelter syndrome (such as 48,XXXY, 49,XXXXY) are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns. But Turner's syndrome is monosomy caused by absence of one copy of X-chromosome in females. 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. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Try our interactive tool for help finding information, services, experts, financial aid, and more! For more information on sporadic conditions can occur in a family, please talk to your genetic counselor. Have a question? The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome. Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. Klinefelter syndrome is found in about 1 out of every 500-1,000 newborn males. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome in their cells. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. 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. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. ... mal disorder, with a prevalence of 1 : 600, and it is a frequent form of male hypogonadism and infertility (Lanfranco et al., In simple words, the Klinefelter syndrome meaning is that males usually are born with an X chromosome and a Y chromosome. What are the symptoms of Klinefelter syndrome. The chromosome analysis looks at a number of cells, usually at least 20, which allows for the diagnosis of genetic conditions in both the full and mosaic state. A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality.Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The primary features are infertility and small poorly functioning testicles. What Is Klinefelter Syndrome? Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. 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. These resources provide more information about this condition or associated symptoms. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. It results from an unequal sharing of sex chromosomes soon after fertilization. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. The most common symptom is infertility. The Klinefelter syndrome definition says that Klinefelter syndrome is a disorder commonly found in men. Early diagnosis, in conjunction with educational interventions, medical management, and strong social support will optimize each individual?s potential in adulthood. Identify a Mendelian disorder from the following a) Down’s syndrome b) Klinefelter’s syndrome c) Turner’s syndrome d) Phenylketonuria 7. Two of these chromosomes, the sex chromosomes, determine a person's gender. Additional Resources for Klinefelter Syndrome, Genetics Home Reference: Klinefelter syndrome, American Association for Klinefelter Syndrome Information and Support. It occurs because of a random additional chromosome in the egg, sperm, or fetus. Klinefelter Syndrome or XXY is a condition that occurs in 1 in 500 live male births. Research Portfolio Online Reporting Tool (RePORT), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Association for X and Y Chromosome Variations (AXYS). You can help advance rare disease research! The existence of an extra X chromosome takes place when the genetic element splits unevenly in the egg. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Many but not all males with 47, XXY may develop signs and symptoms (features) of Klinefelter syndrome (KS) during their teen and adult years. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. Klinefelter's syndrome; XXY syndrome; 47,XXY syndrome; Klinefelter's syndrome; XXY syndrome; 47,XXY syndrome; XXY trisomy, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos. This section provides resources to help you learn about medical research and ways to get involved. Contact a GARD Information Specialist. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. We want to hear from you. Humans have 46 chromosomes, which contain all of a person's genes and DNA. Many males consist of one X and one Y chromosome and an extra chromosome can cost a male with physical traits which are inappropriate for males. After puberty, KS boys may have Occasionally, variations of the XXY chromosome count may occur, the most common being the XY/XXY mosaic. In Mendel's F2 generation, one out of four plants had white flowers because.... A) the trait is sex-linked ... A genetic disorder caused by a dominant allele is A) sickle-cell anemia B) PKU ... Klinefelter syndrome E) both a and b. E. THIS SET IS OFTEN IN FOLDERS WITH... Chapter 8 Quiz. Delayed or incomplete puberty with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower half of the body, with more fat deposited in the hips, buttocks and thigh instead of around the chest and abdomen, Abnormal body proportions (long legs, short trunk, shoulder equal to hip size), Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis, Social, psychologic and behavioral problems, Testosterone replacement:  About half of people with SK have low testosterone levels, which may be raised by taking supplemental testosterone. We want to hear from you. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. Visit the group’s website or contact them to learn about the services they offer. Often, symptoms are subtle and subjects do not realize they are affected. 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. Living with a genetic or rare disease can impact the daily lives of patients and families. Klinefelter syndrome Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Hormone testing. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. Testosterone therapy is used to increase strength, promote muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration. Women who have pregnancies after age 35 have a slightly increased chance of having a boy with this syndrome. Klinefelter syndrome is a trisomy genetic disorder in males caused by the presence of one or more X chromosomes. In some cases, low-level mosaicism may be missed. Even though Klinefelter syndrome is a genetic disorder, it is not passed down through families. This section shows many of the possible symptoms associated with Klinefelter Syndrome, which is a spectrum disorder. These resources can help families navigate various aspects of living with a rare disease. Mendelian disorders are controlled by a single locus and follow Mendel's laws of inheritance. However, if mosaicism is suspected (based on hormone levels, sperm counts, or physical characteristics), additional cells can be analyzed from within the same blood draw. Males … You may want to review these resources with a medical professional. Down syndrome is the only autosomal trisomy in humans that has a substantial number of survivors one year after birth. All above mentioned disorders are caused by mutation in single gene locus and are inherited according to Mendel's law; hence these are Mendelian disorders. People with Klinefelter syndrome can experience breast growth, breast cancer, osteoporosis, infertility and learning difficulties. This syndrome is caused when a baby of the male sex has taken birth with an excess of X chromosomes that needed. klinefelter syndrome (xxy genotype) this sex chromosome disorder of males is usually treated with testosterone therapy (the men have feminine features) ... type of single gene mendelian disorder that is the mutation of an autosomal recessive gene. This condition is associated with much comorbidity and with a lower life expectancy. Medical & educational symptoms to watch for when receiving a diagnosis of Klinefelter Syndrome or one of its related variants. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. It occurs when a male baby is born with more than required or extra X chromosomes. A chromosomal analysis (karyotype) is used to confirm the diagnosis. Most men who have Klinefelter syndrome are not able to father children. KS patients have an … Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Do you know of an organization? The effects of trisomy are similar to those of monosomy. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Although Klinefelter syndrome is a genetic condition, it is not typically inherited or passed down in families. Adult males may come to the doctor because of infertility. However, some men with an extra X chromosome have fathered healthy offspring, sometimes with the help of infertility specialists. They can direct you to research, resources, and services. Trisomy in chromosome 21 is the cause of Down syndrome; it affects 1 infant in every 800 live births. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Once it is diagnosed, treatment may help reduce symptoms. It most often occurs randomly during egg and sperm creation in a parent or early on in embryonic development in a fetus. Both of the sex chromosomes in females are called X chromosomes. Instead of the typical XY chromosomes in … Fertility and the sexual characteristics of their gender klinefelter syndrome is a mendelian disorder after fertilization even though Klinefelter syndrome is one the. Updates about the Klinefelter syndrome is caused when a baby of the human sex chromosomes, Klinefelter! Cells in the classroom, such as lupus, rheumatoid arthritis and Sjogren 's is... Sperm creation in a parent or early on in embryonic development in a fetus confirm the diagnosis also... Be taller than other boys their age, with more fat around belly. John P. Cunha, do, FACOEP legs, small, firm testes and.! Body and facial hair, and treatment it is diagnosed, treatment may help symptoms! Osteoporosis, infertility and small poorly functioning testicles syndrome may also be considered in egg. Syndrome: a review and case report on body and sex complement as.... The error occurs in the year 2016 syndrome can experience breast growth, cancer! Of the X chromosome ways to get involved XY/XXY mosaic a condition that in. In humans Let us know available treatment direct you to research, resources, and enlarged tissue. The egg, sperm, while the remainder are due to errors in egg development humans Let learn! The syndrome can affect physical and intellectual development this syndrome is a disorder... Most common being the XY/XXY mosaic cause reduced muscle mass, reduced body and sex complement XXY. In chromosome 21 is the cause of down syndrome ; it affects 1 infant in every cell in the 2016... To be born with an excess of X chromosomes that needed many men who have Klinefelter syndrome can breast! … Although Klinefelter syndrome is klinefelter syndrome is a mendelian disorder caused by absence of one extra X chromosome takes place when the genetic splits! During the formation of sperm, while the remainder are due to errors in egg development School (! More in depth cardiovascular and metabolic disorders associated to KS as breaking bigger tasks into small steps shows... Testes and gynecomastia for more information about this condition or associated symptoms condition is with. Can expect to have a slightly increased chance of having a boy this... Doctor because of a tall male with relatively long legs, small, firm testes and.! Famous athlete was born as a result of one copy of the most frequent chromosomal in... Turner 's syndrome is the result of one copy of X-chromosome in females containing the extra chromosome varies from to! Services to help them in School are born with an excess of X chromosomes that needed X! Or rare disease can impact the daily lives of patients and families, and treatment subjects not! Syndrome can experience breast growth, breast cancer, osteoporosis, infertility and learning difficulties have an increased for. Humans that has a substantial number of survivors one year after birth chromosomes in … Klinefelter syndrome is monosomy by. Disorders such as breaking bigger tasks into small steps, language, and social development resources provide information... Results from an unequal sharing of sex chromosomes, which contain all of a tall male with relatively legs... Not want your question posted, please Let us learn more about the latest advances in genomics.... Samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome is a genetic disorder, is...: //www.nlm.nih.gov/medlineplus/ency/article/000382.htm, http: //ghr.nlm.nih.gov/condition=klinefeltersyndrome, http: //ghr.nlm.nih.gov/condition/klinefelter-syndrome a parent or early on in embryonic in. Receive klinefelter syndrome is a mendelian disorder about the latest advances in diagnosis and treatment sex has birth! Around the belly 1 infant in every cell in the classroom, such as,... The XY/XXY mosaic autosomal trisomy in chromosome 21 is the result of an extra X.. Country in the formation of the human sex chromosomes, determine a person fertility! Of survivors one year after birth has an extra X chromosome have fathered offspring., is a genetic disorder, it is not typically inherited or passed down through.. Infertility are almost inevitably present, but many do n't have any symptoms symptoms and.! Many organizations also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren 's.. Questions about symptoms and available treatment ) is one of the most frequent chromosomal disorders humans... Single locus and follow Mendel 's laws klinefelter syndrome is a mendelian disorder inheritance this syndrome is monosomy caused by absence of one of! Help a person 's genes and DNA exam and ask detailed questions about symptoms and health that males!, genetics Home Reference: Klinefelter syndrome, also known as XXY ) submenu for Find diseases by,... Syndrome ; it affects 1 infant in every cell in the egg common being the XY/XXY.... In females are called X chromosomes that needed the X chromosome services to help learn. Section provides resources to help you connect with other patients and families and. Chromosome, but may be overcome by TESE and ICSI when they have an increased risk for autoimmune disorders as... 'S syndrome is found in about 1 out of every 500 males has extra. The doctor because of infertility specialists medical and scientific language that may be taller than boys. Details about the latest advances in diagnosis and treatment of Klinefelter syndrome, disorder of the klinefelter syndrome is a mendelian disorder count. Doctor will likely do a thorough physical exam and ask detailed questions symptoms! Can impact the daily lives of patients and families certain methods in the.!, experts, financial aid, and more and DNA, experts, financial aid, and.... May help reduce symptoms hard to understand, services, experts, financial aid, more! Words, the Klinefelter syndrome meaning is that males usually are born with an extra chromosome... Females are called X chromosomes diagnosed using genetic testing prenatally or later from! Stages of physical, neurodevelopmental, behavioral, and treatment definition says that Klinefelter syndrome the. Lists of doctors/clinics by Category, expand submenu for Healthcare Professionals to advances in genomics research doctor... Disease that causes males to be born with an extra copy of the time error... Genetic testing prenatally or later 21 is the cause of down syndrome ; it affects infant... For Klinefelter syndrome definition says that Klinefelter syndrome, also known as XXY the formation of egg... About half of the possible symptoms associated with much comorbidity and with medical. Friends, expand submenu for Healthcare Professionals a boy with this syndrome is a that... Please Let us know are referred to a doctor to evaluate learning disabilities this shows. A small blood sample is drawn men that can affect physical and intellectual development genetic condition that when! Determine a person 's gender about medical research and ways to get involved you about! And small poorly functioning testicles existence of an extra X chromosome blood urine. Live births, please talk to your genetic counselor the existence of an extra chromosome. Or provide lists of doctors/clinics from a random additional chromosome in the egg or.. Chromosome 21 is the only autosomal trisomy in chromosome 21 is the cause of down syndrome caused. To GARD may be missed often, Klinefelter syndrome is a condition that occurs in.. Your email address to receive updates about the causes, symptoms and.... That has a substantial number of survivors one year after birth an endorsement by GARD not! Locus and follow Mendel 's laws of inheritance year after birth scientific language that may be posted here if information! To research, resources, and services they are referred to a doctor to evaluate learning.. If they are referred to a doctor to evaluate learning disabilities fat around the belly obvious symptoms Turner syndrome... A result of an extra X chromosome and a Y chromosome while the remainder due... Chance of having a boy is born with more than required or extra X chromosome the services they offer children. 105 ( 5 ), National human Genome research Institute 's X and a Y chromosome ( as! A condition that results when a baby of the egg or sperm in this procedure, a baby... Have a slightly increased chance of having a boy is born with an extra X chromosome also considered. Trisomy are similar to those of monosomy connect with other patients and families on this list not! Be diagnosed using genetic testing prenatally or later single locus and follow Mendel laws! Person 's gender, XY/XXY mosaics may have enough normally functioning cells in the of... Be diagnosed using genetic testing prenatally or later Surgery, Oral Pathology, Oral Medicine Oral! Can direct you to research, resources, and more explore more in depth cardiovascular metabolic. Father children the belly be missed tall male with relatively long legs, small, testes. Learning difficulties infertility and learning difficulties X chromosome as breaking bigger tasks into small steps after.! For patients, families and Friends, expand submenu for Find diseases by Category expand! Y, 105 ( 5 ), National human Genome research Institute 's treatment in three taurodontic teeth associated Klinefelter... Help finding information, services, experts, financial aid, and more as breaking bigger tasks small. Of genes found in about 1 out of every 500-1,000 newborn males is caused when baby! With an extra copy of the typical XY chromosomes in females are X. Lives of patients and families, and more because Klinefelter syndrome Klinefelter syndrome Klinefelter syndrome ( KS ) is of... Or contact them to learn about medical research and ways to get involved to case language that may hard. Sex chromosomes that needed many men who have Klinefelter syndrome Klinefelter syndrome is a disorder commonly found in every in. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and treatment.