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Klinefelter syndrome diagnosis

klinefelter syndrome diagnosis Klinefelter syndrome can be diagnosed through genetic testing, semen analysis and blood tests to measure hormones. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. However, Klinefelter syndrome is usually underdiagnosed, with an estimated 25% of the expected number of patients being ever diagnosed, and only a minority being diagnosed in childhood. Assessment Approaches Klinefelter syndrome is diagnosed by examining chromosomes for evidence of more than one X chromosome present in a male. Affected individuals typically have small testes that do not produce as much testosterone as usual. This provides a picture of the person's chromosomes. Diagnosis usually involves a physical exam of the chest and genitals, as well as an assessment of mental abilities. To find out if your son has Klinefelter syndrome, your doctor will ask questions about his past health, do a physical exam, and order a chromosome test called a karyotype. This can be done during pregnancy or after birth with a small blood or Klinefelter syndrome is a heterogeneous group of abnormalities of the sex chromosomes, where there is at least one X chromosome in addition to the normal karyotype, 46XY, in males. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. A blood test is also carried out to look at levels of testosterone, luteinizing hormone (LH) and follicle stimulating hormone (FSH). Chromosome analysis. Klinefelter Syndrome is a prenatal condition that occurs when men possess an extra X chromosome either as XXY or XYX. How is Klinefelter Syndrome Diagnosed? The syndrome is diagnosed by a special genetic blood test called akaryotype or chromosome analysis that shows the presence of an extra X chromosome. A blood sample is sent to the lab to check the shape and number of chromosomes. It occurs when a boy is born with an extra X chromosome. Two types of chromosome, called the sex chromosomes, determine the genetic sex of a baby. The most common symptom of Klinefelter syndrome is infertility, which often isn't noticed until adulthood. The diagnosis of Klinefelter syndrome is suspected on physical examination of an adolescent with small testes and gynecomastia. The eXtraordinarY Kids Clinic in Denver, Colorado created this brochure and surveyed both parents and their children to determine what information would be useful. Klinefelter syndrome is one of the leading causes of male infertility. Additionally, features can vary and overlap with other conditions [1] . A sample of the patient's blood is taken and analyzed for the presence of an extra X chromosome. Few studies have examined the incidence of Klinefelter syndrome in Korea. J Clin Endocr Metabl. The aim of this study was to investigate the Klinefelter Syndrome Symptoms There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. How is Klinefelter syndrome diagnosed? Diagnosis is based on a physical examination, hormone testing, and chromosome analysis. Most males have one Y and one X chromosome. Symptoms Klinefelter syndrome causes, facts, karyotype and chromosome, diagnosis, treatment. Harry Klinefelter, who first reported its symptoms in 1942. Chromosomes are packages of genes found in every cell in the body. " Klinefelter Syndrome in some rare cases can also be diagnosed before birth when the mother undergoes a procedure called amniocentesis for some other condition or if there is a family history of genetic disorders. Find more videos at Klinefelter syndrome is a genetic disorder that affects males. It is one of the most common genetic abnormalities, affecting between 1 in 500 and 1 in 1,000 males. The most common sex chromosome abnormality The most common cause of male hypogonadism and infertility Characterized by the addition of at least one extra X chromosome to a 46,XY male karyotype Most descriptions refer to 47,XXY karyotype Over 50% of males with Klinefelter syndrome have 47,XXY Klinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome. Klinefelter syndrome is one of the most frequent chromosomal disorders in males, occurring in approximately 1 in every 500 to 1,000 males. This group of symptoms, which include gynecomastia, increased height, sparse facial and body hair, reduced sperm count, and diminutive testicular size, was originally observed Diagnosis. Neish on xxy klinefelter syndrome symptoms: Presence of more than one x chromosome with one y chromosome is klinefelter syndrome. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. 1942. Syndrome characterized by gynecomastia aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. Klinefelter Syndrome is a genetic condition where a boy is born with an extra X chromosome, leading to male infertility. Klinefelter Syndrome. Klinefelter syndrome is a hereditary disorder which occurs when a baby boy is born with an additional copy of the X chromosome. Although the specific symptoms of this syndrome are unique to each man who has it, the most common side effect of this condition is a lower level of testosterone production. The principal effect is abnormal testicular development and reduced fertility . In order to diagnose Klinefelter syndrome, a doctor will perform certain tests. Most people have 46 chromosomes. Klinefelter Syndrome Klinefelter Syndrome Posted 2-14-05 Key Points Genetics Klinefelter syndrome should be considered as a possible diagnosis among adult men with hypogonadism, infertility, and/or low libido. The manifestations exhibit depending on the number of XXY cells that the male has, the age his condition was diagnosed, and the amount of testosterone in the body. Two-thirds of affected newborns show a karyotype of 47,XXY. Klinefelter syndrome can cause sparse facial hair, small testes, and breast development in men. This condition comes with a set of symptoms that can be usually got from additive X genetic materials. A rare chromosomal genetic syndrome where the person has XXY chromosomes instead of XY or XX. By the late 1950’s, researchers discovered that men with this group of symptoms had an extra sex chromosome, XXY instead of the usual male arrangement of XY. Klinefelter's syndrome is not in intersex condition and never will be. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome in their cells. Thus a male with Klinefelter has XXY instead of the usual XY pair. Many men with an Investigates the personal impact of Klinefelter syndrome and the influence of age at diagnosis, clinical, social, and demographic factors on adult quality of life outcomes. Therefore, particular attention to Klinefelter syndrome is a genetic disorder that affects males. Klinefelter syndrome (KS) is the most frequent chromosomal aneuploidy with a prevalence of 1:500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Unless the syndrome is detected by prenatal testing, baby boys with Klinefelter Syndrome are rarely diagnosed. Q98. The symptoms associated with KS vary greatly and many males with KS are never diagnosed or KLINEFELTER SYNDROME Klinefelter Syndrome is a syndrome in which a person has an additional X-chromosome. Klinefelter syndrome: Introduction. Klinefelter's Syndrome, which affects 1 in 500 to 1 in 1000 live births, is a sex chromosomal genetic disorder where the affected males have an extra X chromosome. Often, symptoms may be subtle and many people do not realize they are affected. Note that there are no facial characteristics that suggest a diagnosis of Klinefelter syndrome. It is not an inherited disorder. Klinefelter's syndrome, 47, XXY or XXY syndrome is a condition caused by a chromosome aneuploidy. Klinefelter’s syndrome is named after Dr Henry Klinefelter, who first described a collection of symptoms present in men with an extra X chromosome; therefore, it is sometimes called 47 XXY (47 refers to the total number of chromosomes in this condition). Dr. As its clinical presentation may be subtle, many of those affected may be unaware or diagnosed only during evaluation for hypogonadism and/or infertility. Its signs and symptoms vary among affected individuals. Klinefelter syndrome is a genetic disorder that happens in males with an extra X chromosome. Diagnosis and Treatment for Klinefelter syndrome Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. The 2 sex chromosomes (X and Y) determine if you become a boy or a girl. If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Syndrome XXY, SYNDROME DE KLINEFELTER, Syndrome de Klinefelter German XXY Syndrom , KLINEFELTER SYNDROM , Klinefelter-Syndrom, Karyotyp 47,XXY , Klinefelter-Syndrom, nicht naeher bezeichnet , Klinefelter Syndrom , Klinefelter-Syndrom What is XXYY Syndrome? 48,XXYY is a sex chromosome variation that affects one in every 17,000 boys who are born. . Investigates the personal impact of Klinefelter syndrome and the influence of age at diagnosis, clinical, social, and demographic factors on adult quality of life outcomes. Symptoms and Klinefelter came to examine nine adult men that had a common set of symptoms during the course of his fellowship (“Klinefelter Syndrome,” 2006). 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 or klinefelter’s syndrome also known as XXY syndrome as the name itself represent is a genetic disorder in which there is presence of one extra chromosome in the normal karyotype. small testes, tall/slender build, and low testosterone), and confirmed by analyzing the chromosomes in white blood cells. Definition Causes Risk Factors Symptoms Diagnosis Treatment Prevention revision Definition Klinefelter syndrome (KS) occurs in some men who have more than one X chromosome (XXY). However, many men with Klinefelter’s syndrome are never diagnosed. 5-Minute Clinical Consult (5MCC) app and website powered by Unbound Medicine helps you diagnose and manage 900+ medical conditions. Symptoms of Klinefelter Syndrome The principal effects are development of small testicles and reduced fertility. Klinefelter HF Jr, Reifenstein EC Jr, Albright F. People with this condition are born with at least one extra X chromosome. Affected males have an extra X sex chromosome . The diagnosis of Klinefelter's syndrome, as noted above, is often made when a man presents with infertility and a lack of sperm is found on a sperm sample. Nearly 70 years after its description, Klinefelter syndrome (KS) remains a largely undiagnosed condition. Treatments Treatment with testosterone and/or a medicine to prevent excess estrogen production may be given to help normalize secondary sexual development and improve libido, strength, mood and thinking. PGS allows for parents to only implant embryos into the mother's uterus that do not have extra or missing chromosomes. The male has an extra X chromosome, leading to an XXY pattern rather than the normal XY pattern in males (females are XX). Klinefelter syndrome (sometimes called Klinefelter’s, KS or XXY) is where boys and men are born with an extra X chromosome. It is not life consuming, but rather people who have this syndrome can live perfectly normal lives proper treatment and care. Klinefelter syndrome occurs when a male is born with an extra X chromosome. 2016 2017 2018 2019 Billable/Specific Code Male Dx POA Exempt. The syndrome can affect different stages of physical, language and social development. Because the symptoms are not always obvious, the diagnosis of Klinefelter’s syndrome might not be made until the man seeks medical help for infertility, a loss of sex drive or a bone fracture, or is not diagnosed at all. The person is usually male because of the Y chromosome, but has lower levels of testosterone and may have some female-like features (because there are two X chromosomes). Males with this condition have smaller-than-normal testicles that Are You Confident of the Diagnosis? What you should be alert for in the history. Many men with an Klinefelter syndrome is a genetic disorder that affects males. Diagnosis is often dependent on the clinician possessing an insight of Klinefelter’s syndrome. Definition Causes Risk Factors Symptoms Diagnosis Treatment Prevention revision Definition Klinefelter syndrome (KS) happens in men who have more than one X chromosome (XXY). 2:615-24. It is the result of an extra sex chromosome (denoted 47,XXY), which can have physical, developmental, and learning implications. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Actually, this is always present in males and most doctors called this condition as XXY or 47 XXY. The syndrome can affect different stages of the language, physical, and social development. XXY males diagnosed in adulthood are also likely to benefit from the hormone. Symptoms A diagnosis of Klinefelter’s syndrome is confirmed using a blood test called a karyotype that checks the number and structure of chromosomes in cells. Having extra X chromosomes can cause a male to have some physical traits unusual for males. Previous studies of children and young adults with Klinefelter syndrome found a greatly decreased linguistic ability and increased diagnosis of ADHD, thus leading to a recommendation to screen for Klinefelter syndrome in boys with language disabilities and/or behavioral difficulties. Klinefelter syndrome is the most common chromosomal aneuploidy in men (XXY karyotype, 1 in 600 live births) and results in testicular (infertility and androgen deficiency) and nontesticular (cognitive impairment and osteoporosis) deficits. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Klinefelter syndrome can affect different stages of male development, such as physical appearance, language, and social maturity. The X and Y chromosomes are called sex chromosomes because they contain the genetic information that determines male and female sexual characteristics. Any GP can order genetic testing when a chromosomal or genetic condition is suspected or needs to be ruled out. The most common symptom is infertility. Klinefelter syndrome is underdiagnosed because the condition is often not identified in men with mild signs and symptoms. It is also known as XXY syndrome and was previously sometimes Klinefelter syndrome causes, facts, karyotype and chromosome, diagnosis, treatment. That explains why the condition is diagnosed late. Many men with an Klinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome. , 1942) as a condition characterized by gynaecomastia, small, firm testes, hypogonadism and a high level of FSH. About Klinefelter Syndrome Klinefelter syndrome, also known as XXY syndrome, is a fairly common genetic condition found in males only. Klinefelter syndrome or Klinefelter's syndrome (KS) - also known as 47,XXY or XXY - is the set of symptoms that result from two or more X chromosome in males. The syndrome can also be diagnosed before birth but testing is not routinely done at that time. It occurs if you are born with an extra X chromosome. The extra X chromosome can affect physical, developmental, behavioral, and cognitive functioning. Klinefelter syndrome only affects males. Many men with an Klinefelter syndrome usually is not diagnosed until the time of puberty. Diagnosing Klinefelter syndrome can be difficult, because not all males carrying the extra chromosome show symptoms. Henry Klinefelter, who first described a group of symptoms found in some men with the extra X chromosome. This can be done during pregnancy or after birth with a small blood or Klinefelter Syndrome often referred to as XXY trisomy, XXY syndrome, and Klinefelter’s Syndrome is a chromosomal disorder exclusively associated with males having one or more of the X chromosome than the normal ‘XY’ pattern. The majority of cases detected before a boy reaches puberty are detected during prenatal amniocentesis, according to Fennoy. Klinefelter syndrome is a genetic syndrome which occurs in men who are born with at least one additional X chromosome on top of the normal XY combination. A diagnosis of Klinefelter’s syndrome is confirmed using a blood test called a karyotype that checks the number and Fact sheet: Klinefelter's syndrome If the diagnosis of Klinefelter syndrome is suspected in a young boy or adult male, chromosome testing can also be on a small blood or skin sample after birth. XYY syndrome is a genetic condition that occurs when a male’s genes have an extra Y chromosome. Klinefelter syndrome is a common genetic condition affecting males. Drugs Used to Treat Klinefelter Syndrome The following list of medications are in some way related to, or used in the treatment of this condition. What Is Klinefelter Syndrome? Klinefelter syndrome is a fairly common genetic condition found in males only. At this point, the boy's testicles fail to grow and you may start to notice other symptoms. Klinefelter syndrome is a chromosomal anomaly that affects males. Diagnosis of klinefelter’s syndrome can also be achieved prenatally if a genetic disposition for the syndrome is suspected from a family history. This patient was referred to the Birmingham Children’s Hospital in 1959 with unrelated syncope attacks. Additional testing can then be ordered to confirm the diagnosis. About Klinefelter Syndrome: Klinefelter syndrome is the presence of an extra X chromosome in a male. Klinefelter Syndrome Symptoms. Klinefelter's syndrome is a condition that occurs in men who have an extra x chromosome in most of their cells. That Affect male physical and perceptional development. Klinefelter syndrome, 47,XXY is the most common chromosomal aberration among men. Klinefelter Syndrome is a topic covered in the 5-Minute Clinical Consult. "klinefelter syndrome" A Simple Guide To Klinefelter Syndrome, Diagnosis, Treatment And Related Conditions Apr 20, 2017 | Kindle eBook. Klinefelter syndrome is named after Dr. Klinefelter syndrome is a chromosome disorder that affects a male’s physical and cognitive development. How is Klinefelter syndrome diagnosed? Diagnosis is based on a physical examination, history of social or learning problems, hormone testing, and chromosome analysis. Early diagnosis and a good understanding of the implications of Klinefelter’s Syndrome (KS) can improve life for both the person with the condition and also those with whom they have close contact. Klinefelter Syndrome Treatment Males affected by Klinefelter syndrome are given testosterone which is a hormone required for sexual enhancement. Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. It results from an unequal sharing of sex chromosomes very soon after A diagnosis of Klinefelter syndrome can be made based on a number of physical characteristics and symptoms, and confirmed with diagnostic chromosomal analysis. A case of human intersexuality having possible XXY sex Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Klinefelter syndrome is diagnosed using a karyotype, which is an analysis of a patient's chromosomes taken through a blood sample. Jennifer W. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. Klinefelter Syndrome is a genetic condition caused by an abnormality of the XY Chromosome. It happens in males and is linked with hypo-gonads and infertility. Klinefelter syndrome can cause problems with learning and sexual development in guys. The following are the said presenting symptoms of the disease: To expand the scientific knowledge on the diagnosis, pathophysiology and treatment of the syndrome Klinefelter Syndrome Klinefelter syndrome is a group of conditions that affects the health of males who are born with at least one extra X chromosome . Klinefelter Syndrome is usually diagnosed by evaluating the outward symptoms (e. Karyotyping: If Klinefelter syndrome is suspected after puberty, a karyotype test is performed. The syndrome can affect different stages of physical, language, and social development. Klinefelter syndrome can also be diagnosed during a woman's pregnancy. Men with the condition have gone from being diagnosed as completely sterile to a prognosis of likely fertility because of modern technology. It causes changes to their cognitive and physical development. Chromosomes contain all of your genes and DNA, the building blocks of the body. Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. It can cause a variety of problems, including a small penis, small testes and infertility. Symptoms Klinefelter Syndrome is a condition that has seen miraculous advances on the fertility treatment front over the span of just 15 years. Klinefelter syndrome may first be diagnosed when a man comes to the doctor because of infertility, as it is the most common symptom. The primary feature of Klinefelter syndrome is sterility. This eMedTV selection takes a closer look at this genetic condition, including its causes, symptoms, treatment options, and more. Since these symptoms don’t necessarily manifest or aren’t always detected, a diagnosis often isn’t made until later in life—namely when infertility is suspected. Chromosomes are found inside the cellular nucleus and are made of hundreds of genetic combinations. Klinefelter syndrome Symptoms and Causes: causes - General: Healthy males have one X and one Y chromosome, while females have two X chromosomes. Klinefelter syndrome is a genetic condition affecting males. Maggi M, Schulman C, Quinton R, Langham S, Uhl-Hochgraeber K. Learn the causes, symptoms, and treatments. A diagnosis of Klinefelter syndrome can be made based on a number of physical characteristics and symptoms, and confirmed with diagnostic chromosomal analysis. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a XXY sex chromosome karyotype. Klinefelter syndrome is a condition caused by the presence of an extra chromosome at the time of conception and describes the occurrence of an extra X chromosome in males Therefore, aside from the XY pair usually seen in males, there are now 3 chromosomes Klinefelter's syndrome is a condition that occurs in men who have an extra x chromosome in most of their cells. Because males with this condition produce less of the male hormone testosterone than other males, they are less masculine-looking than their peers. , an American physician. If the treatment begins near the age of puberty, it can serve boys to have a proper body development. Occasionally, symptoms like these can be linked to a condition called Klinefelter syndrome. Toddlers may come to diagnosis during evaluation for speech delay, which at least 50% of patients have. Symptoms can be subtle and many men do not realize that they are affected. These are named Young men with Klinefelter syndrome often suffer from other diseases such as osteoporosis, diabetes or heart defects. Humans ordinarily have 23 pairs of chromosomes. This will include by examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning. Klinefelter syndrome is a common genetic condition affecting males, and it often isn't diagnosed until adulthood. Many men with Klinefelter syndrome go through life without being diagnosed. 80% of men with Klinefelter have one extra X chromosome (making an XXY Chromosome) and 20% have other varations such as a combination of XY and XXY (ie. At this point, the boy's testicles fail to grow, and you may start to notice other symptoms. Males with Klinefelter's syndrome have small testicles (testes) which do not produce enough of the male hormone testosterone before birth and during puberty. Klinefelter syndrome is frequently diagnosed during clinical infertility examinations, meaning a diagnosis in adulthood. Diagnosis of Klinefelter syndrome is made by examining chromosomes for evidence of more than one X chromosome present in a male. Girls Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. For example, some people may confuse the term Klinefelter syndrome with Down syndrome, a condition resulting in mild to moderate mental retardation. Klinefelter syndrome is a condition in What is 47,XXY / Klinefelter syndrome? Klinefelter syndrome, ,XXY, is a chromosomal condition that aff ects males. The primary feature is sterility. This can be done in pregnancy with prenatal testing such as a chorionic villus sampling or amniocentesis . recognized as Klinefelter Syndrome. Those with the condition have an extra X chromosome in Klinefelter syndrome is often diagnosed at one of two times: when a boy is lagging in development during puberty, or when a man is having trouble fathering a baby. Klinefelter syndrome is a relatively common occurrence among the male population. It represents a naturally occurring human model for studies of both X-chromosome gene expression and potential androgen effects on brain development and function. Klinefelter Syndrome (or XXY syndrome), is a genetic disorder that affects males. . Is preimplantation genetic diagnosis available for Klinefelter syndrome? Preimplantation genetic screening (PGS) is available for Klinefelter syndrome. The primary features are infertility and small testicles. Klinefelter syndrome is a congenital, genetic disorder caused due to the presence of an additional copy of the X chromosome in a boy. Comment from: Foxy, 55-64 Male (Patient) Published: May 06 I was diagnosed when I was 42, while waiting for spinal surgery. It's a genetic condition (meaning a person is born with it). Klinefelter syndrome [KS] is a genetic chromosomal condition that affects only men. Klinefelter syndrome diagnosed until they are adults, when they may have difficulty fathering children. A case of human intersexuality having possible XXY sex Klinefelter syndrome is a genetic disorder that affects the development of the testes and, as a result, testosterone production. A genetic karyotype test can then be used to confirm the diagnosis. A diagnosis can be made at any time, but the optimal times are shortly after birth or in early childhood. Klinefelter syndrome is a genetic disorder that affects males. Most boys with Klinefelter syndrome have normal or slightly decreased intelligence. ¹ XXYY Syndrome is the name attached to the cluster of symptoms that arise as a result of the 48,XXYY chromosome pattern. Comparisons may be useful for a differential diagnosis: Klinefelter syndrome is associated with a group of chromosomal disorders in males in which one or more extra X chromosomes are present. Klinefelter syndrome is a genetic disorder that doesn’t have a cure, but most men who have it can live normal, healthy lives. Different prenatal tests include amniocentesis and chorionic villus sampling. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms. Symptoms 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[web-books. The following symptoms may occur. is a disorder of the human sex chromosomes that occurs in males. My physician had suspected Klinefelter's syndrome at my pre-marriage physical examination; a simple blood test confirmed the diagnosis. Believe it or not, this isn’t actually as odd as it sounds. DISCLAIMER The information, text, graphics, and links provided on this site are provided for those seeking information about Klinefelter Syndrome/XXY. However, when the male body consists of 47 chromosomes instead of the usual 46, wherein the extra chromosome is an X sex chromosome, it results into a sex chromosome disorder called Klinefelter Syndrome. Others may prefer to reveal the diagnosis early. Klinefelter Syndrome is one of the most common single causes of hypogonadism and infertility in males. Males with Klinefelter syndrome have XXY chromosomes, rather than XY chromosomes, leading to a lower level of the male hormone testosterone and related symptoms. and breast and germ cell tumor. A male is born with one or more extra X chromosomes. Klinefelter Syndrome children with medical diagnoses are eligible for testing and intervention earlier than children who do not have a specific identified cause for delay. Klinefelter syndrome, male with more than two X chromosomes. It is named after Dr. The list of signs and symptoms mentioned in various sources for Klinefelter syndrome includes the 30 symptoms listed below: . Symptoms of Klinefelter syndrome. Case 28. Klinefelter syndrome can provide a number of symptoms but are somehow unnoticeable. Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. The extra X chromosome may come from the egg or sperm, or be ‘added’ early in the development of the embryo. Symptoms of the following disorders can be similar to those of XYY syndrome. The syndrome can also be diagnosed before birth, but testing is not routinely done at that time. However, diagnosis of this chromosome abnormality is hindered by the fact that there are oftentimes no outstanding symptoms or characteristics that disrupt normal life for the males that have Klinefelter syndrome. Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males. Klinefelter’s Syndrome (KS) is a spectrum condition – the severity and number of symptoms varies considerably from person to person. It is amongst the most frequent The Association for X and Y Chromosome Variations offers helpful tips about how to discuss a diagnosis of Klinefelter syndrome with a child. Klinefelter syndrome may be diagnosed before birth (prenatal diagnosis) when tests such as amniocentesis, chorionic villus sampling or maternal blood tests (recent method) during early pregnancy are done. Klinefelter Syndrome is a chromosome disorder occurring in males. The symptoms are often subtle in Doctor answers on Symptoms, Diagnosis, Treatment, and More: Dr. Jacobs PA, Strong JA. Symptoms of Klinefelter syndrome in babies may include muscle weakness; delayed ability to crawl, sit or walk (gross motor development); and delayed speech. Cse 27. Unlike several other congenital Klinefelter syndrome: Find the most comprehensive real-world symptom and treatment data on Klinefelter syndrome at PatientsLikeMe. Klinefelter organized a case study that involved these nine men and their similarities and was encouraged by Dr. XXY can be diagnosed with a specialised blood test, called karyotyping (a karyotype), to look for chromosomal abnormalities. This syndrome results in primary testicular failure, which leads to a hypogonadal syndrome or hypogonadism. When the diagnosis of Klinefelter syndrome is initially made, genetic counseling regarding the natural history of Klinefelter syndrome, including infertility, should ensue and be tailored to the What exactly is Klinefelter Syndrome? Every male cell consists of 44 autosomes and XY sex chromosome. Affected males have an extra X chromosome. 1 is a billable/specific ICD-10-CM Klinefelter’s syndrome is the most common chromosomal disorder in men, affecting about 1 in 650 men. What is Klinefelter syndrome? It is a condition in boys caused by the presence of an extra X chromosome. Others have problems early in life with delayed developmental “About 66 percent of males with Klinefelter syndrome are never diagnosed, and only about 10 percent are diagnosed prior to puberty,” she said. See how Klinefelter Syndrome is diagnosed. Introduction Klinefelter Syndrome is a genetic disorder that only affects males. Klinefelter syndrome happens in about 1 out of 500 to 1,000 baby boys. Many men are diagnosed during an infertility evaluation (probably all nonmosaic 47,XXY males are infertile). Klinefelter syndrome designates a condition in which a male has an extra X chromosome and has a cluster of typical physical features. Symptoms of Klinefelter’s syndrome Most of the babies affected by Klinefelter syndrome may rarely elicit any signs and symptoms, and the disorder may remain undiagnosed till adulthood. Klinefelter syndrome (47, XXY) is a condition which occurs in men who have an extra X chromosome, resulting in an XXY sex chromosome karyotype. Other affected males may have marked problems in development and appearance. Girls Klinefelter's syndrome The XXY chromosome arrangement is a common genetic abnormality, occurring as frequently as 1 in 1,000 male births, but the symptoms that may result from having the extra chromosome is less common. 40 patients with Klinefelter syndrome experience fatigue, depressed mood, pain, anxious mood, and insomnia and use Testosterone, Hydrocodone-Acetaminophen, and Ketorolac to treat their Klinefelter syndrome and its symptoms. Klinefelter syndrome adversely affects testicular growth, and this can result in smaller than normal testicles. Newsletter Klinefelter syndrome can cause problems with learning and sexual development in guys. The prevalence of high social anxiety in boys with 47,XXY (Klinefelter syndrome) may be due to lower levels of testosterone, according to a study published in PLoS One. A diagnosis of Klinefelter syndrome is often suspected based on the presence of characteristic signs and symptoms. Characteristic clinical findings in men with Klinefelter syn-drome. Klinefelter’s syndrome is not typically diagnosed at birth Klinefelter syndrome is diagnosed by examining chromosomes for evidence of more than one X chromosome present in a male. The way this page reads the syndrome causes the genetics, but in reality the genetics cause the syndrome, eventually, the syndrome that Harry Klinefelter's described, but not in all individuals. Klinefelter's syndrome is a set of symptoms resulting from two or more X chromosomes in males. These are named 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). • About 64% affected individuals are not recognized as such. Skip to main content Diagnosis of Klinefelter syndrome is performed by lymphocyte karyotype or chromosomal microarray. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males. No symptoms - some men are unaware they have an extra chromosome Klinefelter syndrome is a chromosome disorder that affects males. The chromosomes are present Klinefelter syndrome is a genetic disorder that doesn’t have a cure, but most men who have it can live normal, healthy lives. To view the entire topic, please sign in or purchase a subscription. Males that don’t have Klinefelter syndrome have one X and one Y chromosome. This reduces the risks of most of the long-term complications associated with Klinefelter's syndrome: Treatment should begin as they enter puberty. two cell populations – called mosaicism). Klinefelter syndrome is the most common genetic disorder occurring in males leading to occurrence of hypogonadism and infertility. Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. In Australia is occurs in about one in 450 male babies. Psychiatric consultation may be helpful when the boys reach adolescence. Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. Klinefelter syndrome (KS) is also known as 47, XXY or XXY and describes the set of symptoms that are the consequence of two or more X chromosomes in males. In conclusion, the diagnosis of Klinefelter’s syndrome was more frequent between 11 and 20 yr of age in our series, probably due to the fact that in the last years pediatricians have become more aware of the likelihood of the diagnosis in boys and adolescents with neuro-developmental disorders, cryptorchidism, and small testes. A male with Klinefelter syndrome has an additional X chromosome, which causes infertility, low testosterone and other characteristics such as development of breast tissue. Klinefelter syndrome is a genetic condition characterized by set of symptoms that result from two or more X chromosome in males. Klinefelter Syndrome Symptoms There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. Symptoms are often subtle, and many people do not realize they are affected. Some mosaic cases will only be detected by karyotype of skin fibroblasts and occasionally of testicular biopsy specimens. A health care provider will take a small blood or skin sample and send it to a laboratory, where a technician inspects the cells under a microscope to find the extra Klinefelter Syndrome What Is Klinefelter Syndrome? Klinefelter syndrome is a fairly common genetic condition found in males only. com] Abstract. It is the leading cause of infertility and Klinefelter's syndrome is a genetic condition that only affects males. Klinefelter’s syndrome is not commonly diagnosed, with only four in 10 men diagnosed after birth and 10% diagnosed pre-puberty. Klinefelter syndrome is diagnosed by examining chromosomes for evidence of more than one X chromosome present in a male. Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. for topic: Xxy Klinefelter Syndrome Symptoms Klinefelter's syndrome (KS) was first described by Harry Klinefelter in 1942 (Klinefelter et al. Klinefelter syndrome adversely affects testicular growth, resulting in smaller than normal testicles, which often leads to low production of testosterone. Unlike several other congenital Klinefelter syndrome is the most common sex chromosome disorder and occurs in about 1 in every 500 live male births. It happens because of a difference deep inside the body's cells, in microscopic strings of DNA (what make up For Klinefelter syndrome I had two hormone shots when I was 14 or so and a prescription for testosterone, which I still get. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Klinefelter Syndrome World map of Klinefelter Syndrome View more diagnosis of XXY (Klinefelter) syndrome Consider talking to your child's doctor or Talking with your child about his diagnosis of XXY Syndrome Klinefelter syndrome (KS), also known as XXY-Syndrome is a genetic condition that occurs in males who are born with an extra copy of the X chromosome. g. Difference Between Turner and Klinefelter Syndrome February 20, 2018 By Rachna C Leave a Comment Turner syndrome is the dysgenesis in the female gonads, while Klinefelter syndrome is the male hypogonadism. It is one of the most prevalent genetic disorders found in males Klinefelter syndrome is a chromosomal disorder that affects only males. Common presenting symptoms are infertility and gynecomastia. Examining sex chromosomes to determine number (karyotyping) can confirm the diagnosis. My wife and I began attending Klinefelter Syndrome and Associates national conferences, where I began connecting the dots of the symptoms with my new diagnosis. decrease breast growth or correct infertility. How do health care providers diagnose Klinefelter syndrome (KS)? The only way to confirm the presence of an extra chromosome is by a karyotype (pronounced care-EE-oh-type ) test. It’s a genetic condition (meaning a person is born with it). These men have an extra X chromosome. Most boys inherit the extra X chromosome from their mother. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. Klinefelter Syndrome or XXY is a condition that occurs in 1 in 500 live male births and has many possible symptoms, although everyone with this condition is an individual and unique and does not usually have the same symptoms or to the same degree. Learn about symptoms, diagnosis, treatment, and more. Klinefelter Syndrome Klinefelter's syndrome (KS) is a male genetic disorder, caused by decreased testosterone levels, which affects physical growth. What is Klinefelter syndrome? Klinefelter syndrome is a genetic disorder affecting males that results from having an extra X chromosome. Klinefelter syndrome may adversely affect testicular growth, resulting Klinefelter syndrome Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. The syndrome was first identified and described in 1942 by Harry Fitch Klinefelter, Jr. by Kenneth Kee. Objective/s To increase awareness among general practitioners of their role in the diagnosis and management of KS. Other sex chromosomal Occasionally, symptoms like these can be linked to a condition called Klinefelter syndrome. If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs that would prompt diagnostic testing. Often symptoms may be subtle and many people do not realize they are affected. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. Some parents have found that grandparents, aunts, uncles-and even extended family members-are more supportive when given accurate information. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. Diagnosis. Klinefelter syndrome usually is not diagnosed until the time of puberty. Klinefelter's syndrome (KS) is the constellation of symptoms associated with an extra sex chromosome, the 47, XXY karotype, compared to the usual male configuration, XY. DIAGNOSIS • Despite the presence of small testes, only a quarter of the affected males are recognized as having Klinefelter syndrome at puberty and 25% received their diagnosis in late adulthood. klinefelter syndrome diagnosis