• Klinefelter syndrome, also called 47,XXY, is a genetic condition that occurs in males when they have an extra X chromosome. (medlineplus.gov)
  • Symptoms vary widely, with some males having few or only mild signs. (medlineplus.gov)
  • A form of primary testicular failure occurs in males with Klinefelter Syndrome, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. (medscape.com)
  • Klinefelter males are born with at least one extra X chromosome in each of their cells. (wdxcyber.com)
  • Some Klinefelter males experience symptoms of their condition as boys or teenagers, and they therefore benefit from diagnosis and treatment at an earlier stage. (wdxcyber.com)
  • It's common, for example, for Klinefelter males to have less body or facial hair, and less muscle mass, than "normal" males. (wdxcyber.com)
  • On the other hand, a great many Klinefelter males look completely ordinary, and enjoy a healthy and normal sex life until the time comes to have children. (wdxcyber.com)
  • Moreover, there is a very, very small number of Klinefelter males who have managed to become biological fathers. (wdxcyber.com)
  • Klinefelter syndrome (KS) refers to a genetic condition where the males have an extra chromosome making the total number of chromosomes 47 instead of 46 in healthy males. (artfertilityclinics.com)
  • Many males with KS have no significant symptoms or only a few mild symptoms. (artfertilityclinics.com)
  • 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. (hxbenefit.com)
  • While symptoms start emerging in some males much before puberty, most of them are affected when they reach their teens. (hxbenefit.com)
  • Klinefelter syndrome refers to a collection of characteristics in males that are caused by having two or more X chromosomes. (healthymale.org.au)
  • The number of males with Klinefelter syndrome is not known 2 . (healthymale.org.au)
  • The effects of Klinefelter syndrome vary between males with the condition 1 . (healthymale.org.au)
  • Klinefelter syndrome is a genetic condition that affects males by causing them to be born with one or more extra X chromosomes. (ro.co)
  • But males born with Klinefelter syndrome have an extra copy of the X chromosome, or sometimes multiple extra X chromosomes. (ro.co)
  • Males with the syndrome are often infertile, but sometimes the testes develop enough to produce sperm. (msdmanuals.com)
  • A small percentage of males with Klinefelter syndrome are diagnosed before birth. (mayoclinic.org)
  • An estimated 50% of males with Klinefelter syndrome can produce sperm. (wikipedia.org)
  • Klinefelter males, on the other hand, have at least one spare X - so the make-up of Klinefelter cells will be XXY. (sharedjourney.com)
  • Klinefelter males are born with the condition. (sharedjourney.com)
  • Although some Klinefelter males will exhibit symptoms of the condition from boyhood, many don't realize that they have the condition until they try as adults to become fathers. (sharedjourney.com)
  • Unfortunately, the infertility aspect of Klinefelter's is rarely treatable, although some Klinefelter males have become Dads thanks to an assisted reproduction technique called ICSI . (sharedjourney.com)
  • 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. (doctors.am)
  • About one of every 500 males has an extra X chromosome, but many don't have any symptoms. (doctors.am)
  • Effects of the syndrome will vary from one individual to another and not all the males portray the same symptoms and signs. (premiumessays.net)
  • Symptoms of this condition in present-day males, known as Klinefelter syndrome, include low testosterone , lack of facial and body hair, enlarged breasts and learning and language-related problems. (dictionary.com)
  • Men and males with Klinefelter syndrome are nevertheless genetically male, and frequently will perhaps not realise they usually have this chromosome that is extra but sporadically it may cause issues that may need treatment. (alvamater.com)
  • Individuals with this syndromes are phenotypically males but with tendency towards femaleness. (majordifferences.com)
  • Klinefelter syndrome (or 47,XXY or XXY syndrome) is a condition in which males have an extra X chromosome. (clinicalpub.com)
  • Klinefelter syndrome is the most common sex chromosome disorder in males and the second most common condition caused by the presence of extra chromosomes. (clinicalpub.com)
  • One in every 500 males has an extra X chromosome but does not have the syndrome. (clinicalpub.com)
  • XYY syndrome is a rare genetic condition that occurs in males, only when they are born with an additional Y chromosome in most or all of their cells. (askapollo.com)
  • Since the symptoms mentioned above are commonly found in males, XYY syndrome goes undiagnosed most of the time. (askapollo.com)
  • Klinefelter syndrome is a genetic condition that affects males. (umcvc.org)
  • In Turner syndrome, females have undeveloped breast while in Klinefelter syndrome males have enlarged breast. (difference.wiki)
  • In Turner syndrome, uterus, vagina, and vulva are present, but they can not begin the period and do not produce child while in case of Klinefelter syndrome males have less developed and small testes, penis, vasa deferens so no functional sperm are produced. (difference.wiki)
  • Klinefelter syndrome is responsible for the less production of testosterone, the hormone which is essential for the primary characteristics of the males. (difference.wiki)
  • Klinefelter syndrome is a common ancestral state that affects males. (difference.wiki)
  • Males who are still growing in their early years can experience symptoms of hypogonadism that vary from minor to extreme. (mangoclinic.com)
  • Adult males can suffer from similar symptoms to those found in teenage males, such as lack of facial hair and a decrease in muscle mass. (mangoclinic.com)
  • Souyris et al reported that in both females and males with Klinefelter syndrome, substantial fractions of primary B lymphocytes, monocytes, and plasmacytoid dendritic cells express TLR7 on both X chromosomes, leading to greater immunoglobulin secretion. (medscape.com)
  • The more the number of X chromosomes in the majority of cells, the greater is the severity of the symptoms. (hxbenefit.com)
  • However, some syndromes can affect these sex chromosomes, causing many issues for those involved, known as atypical sex chromosome patterns (Klinefelter and Turner syndrome). (hellovaia.com)
  • Turner's syndrome patients have 45 chromosomes rather than the usual 46. (hellovaia.com)
  • The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. (wikipedia.org)
  • This means that only some cells have extra Y chromosomes, leading to fewer symptoms of XYY syndrome. (askapollo.com)
  • Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. (umcvc.org)
  • The main difference between Turner Syndrome and Klinefelter Syndrome is that Turner Syndrome is the change in the genetic chromosomes in females while a Klinefelter Syndrome is a change in ancestral chromosomes in men. (difference.wiki)
  • Extant literature shows that Klinefelter syndrome (KS) is a chromosomal condition that affects the male physical, psychosocial and cognitive capacities due to the presence of one or more supernumerary X chromosomes among the affected individuals. (psychologywriting.com)
  • In Turner syndrome, girls are born with one of the two X chromosomes partly or completely missing. (epnet.com)
  • Klinefelter syndrome boils down to having one too many extra X chromosomes. (mangoclinic.com)
  • Rather than having 46 chromosomes, including the two sex chromosomes X and Y (46,XY), boys and men with Klinefelter syndrome have an additional X chromosome (47,XXY). (andrologyawareness.eu)
  • Small or abnormally shaped testicles are another symptom of the condition. (wdxcyber.com)
  • The main effect of Klinefelter syndrome is abnormal growth and development of the testicles (testes). (ro.co)
  • Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. (mayoclinic.org)
  • The term "hypogonadism" in XXY symptoms is often misinterpreted to mean "small testicles", when it instead means decreased testicular hormone/endocrine function. (wikipedia.org)
  • The syndrome affects testicular growth adversely resulting to testicles that are smaller than normal. (premiumessays.net)
  • What are the symptoms of Klinefelter's syndrome? (artfertilityclinics.com)
  • What is Turner's and Klinefelter's Syndrome in psychology? (hellovaia.com)
  • Although 10% of cases are diagnosed prenatally, two-thirds of people with the condition are unaware they have Klinefelter's Syndrome. (hellovaia.com)
  • Klinefelter's Syndrome is when biologically male people (anatomically appear male) have an extra X chromosome, making their chromosome pattern XXY. (hellovaia.com)
  • Klinefelter's syndrome is best described as a genetic condition that affects the male child only. (premiumessays.net)
  • Klinefelter's syndrome can also cause reduced muscle mass, facial hair, enlarged breast tissues and reduced body. (premiumessays.net)
  • As earlier mentioned, Klinefelter's syndrome is not noticed until puberty which can come late if the male child has the syndrome. (premiumessays.net)
  • The genetic variation of Klinefelter's syndrome cannot be reversed. (premiumessays.net)
  • Conditions like Klinefelter's syndrome, as a contributor to hormone imbalance symptoms. (prcpb.com)
  • Testosterone is determined in men when reduced testosterone production is suspected, e.g., in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)
  • It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s. (wikipedia.org)
  • Klinefelter syndrome was first identified by DR. Harry Klinefelter in 1940. (difference.wiki)
  • In 85% of cases, people with Klinefelter syndrome are born with one additional X chromosome. (ro.co)
  • That said, some experts suspect that many people with Klinefelter syndrome are never diagnosed-because their symptoms are very mild-so the true prevalence may be much higher (Kanakis, 2018). (ro.co)
  • Many people with Klinefelter syndrome are not diagnosed until after puberty because the symptoms usually do not appear before then. (ro.co)
  • Because of this, people with Klinefelter syndrome may be more likely to struggle in school and in the workplace. (ro.co)
  • Klinefelter syndrome is characterized by hypogonadism (micro-orchidism [small testes], oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioral concerns. (medscape.com)
  • Symptoms of KS generally turn out to be noticeable with the onset of puberty and become pronounced as the individuals attain adulthood. (hxbenefit.com)
  • Boys with Klinefelter syndrome might start puberty but then it stops. (healthymale.org.au)
  • Monitoring the growth and hormone function of boys with Klinefelter syndrome in the lead-up to puberty helps guide decisions about testosterone treatment, which may become necessary. (healthymale.org.au)
  • The diagnosis is suspected at puberty when most of the symptoms develop. (msdmanuals.com)
  • Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. (mayoclinic.org)
  • Often, these symptoms are noticed only at puberty. (wikipedia.org)
  • During puberty, the physical traits of the syndrome become more evident - because these boys do not produce as much testosterone as other boys, they have a less muscular body, less facial and body hair, and broader hips. (wikipedia.org)
  • Note - since KS can be hard to notice, many parents don't know their child has the syndrome until he shows delays in puberty. (healthguidenet.com)
  • Testosterone therapy can help sufferers with many of the symptoms of KS, but the treatment should start at puberty. (healthguidenet.com)
  • The syndrome is not suspected until puberty. (epnet.com)
  • These symptoms are often tied to puberty, as this is when it may be revealed that a child has hypogonadism. (mangoclinic.com)
  • Klinefelter syndrome may first be diagnosed when a man comes to their health care provider because of infertility. (medlineplus.gov)
  • If you have Klinefelter syndrome and wish to have children, it's a good idea to work with an infertility specialist. (medlineplus.gov)
  • Even if the problem is male-factor infertility, the chances of a man having Klinefelter syndrome are relatively low. (wdxcyber.com)
  • If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. (mayoclinic.org)
  • An almost certain consequence of having the syndrome is permanent infertility. (sharedjourney.com)
  • See our section on Klinefelter treatment, under Male Infertility: Drugs and Treatment, for more information. (sharedjourney.com)
  • Treatment of this syndrome is also hormone therapy and infertility treatment in some cases. (difference.wiki)
  • Please click symptoms of infertility in women and symptoms of infertility in men for detailed information. (bestinfertilitytreatment.com)
  • Just because you have an additional X chromosome, does not imply that you'll invariably demonstrate the usual symptoms. (hxbenefit.com)
  • Klinefelter problem isn't straight inherited - the extra X chromosome does occur as a result of either the caretaker's egg or the father's semen getting the additional X chromosome (the same possibility of this taking place in either), so after conception the chromosome pattern is XXY in place of XY. (alvamater.com)
  • New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XXY. (cdc.gov)
  • 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. (medscape.com)
  • Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)
  • It's important to note that it can sometimes be difficult to spot high testosterone levels and sometimes, what may seem like the symptoms of high testosterone may actually be a result of another condition such as an adrenal or testicular tumor, or a thyroid disorder. (letsgetchecked.com)
  • [ 1 , 2 ] Hypogonadism that is caused by intrinsic structural, destructive, or congenital pathology of the hypothalamic-pituitary-testicular (HPT) axis (such as pituitary tumor or Klinefelter syndrome) is referred to as organic (also termed classical) hypogonadism (Fig. 1). (medscape.com)
  • In addition to its impact on development and fertility, Klinefelter syndrome is associated with many health problems, mainly due to reduced testosterone levels. (healthymale.org.au)
  • If you have Klinefelter syndrome and want to start a family, it might be possible for a fertility specialist to help you by using assisted reproductive technology (ART). (healthymale.org.au)
  • Most people who have XYY syndrome lead productive lives with normal sexual development and fertility. (askapollo.com)
  • With an occurrence rate of 1:500 to 1:1000 live male births, affected persons exhibit a multiplicity of signs and symptoms such as hypogonadism, fertility problems due to low testosterone, decreased body and pubic hair, tall stature, gynecomastia, language-based learning incapability, and disorders of the executive function (Turriff et al. (psychologywriting.com)
  • This chromosomal condition was first observed and documented by Harry Fitch Klinefelter Jr, an American endocrinologist, and rheumatologist in the 40s, and hence its name. (hxbenefit.com)
  • The signs and symptoms of KS differ in affected individuals. (artfertilityclinics.com)
  • Fortunately, there are numerous treatment plans that can help individuals with KS lead an almost normal life as well as live as long as those who are unaffected by the syndrome. (hxbenefit.com)
  • Individuals with Klinefelter Syndrome show reduced volume in several brain areas, including the amygdala, temporal and frontal regions, hippocampus, and insular cortex. (hellovaia.com)
  • Symptoms of Klinefelter syndrome can be so mild in some individuals that they, their parents, and their doctors may not even realise they have the condition. (healthymale.org.au)
  • Treatment, health education and social support can greatly benefit individuals with Klinefelter syndrome. (mayoclinic.org)
  • Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. (cdc.gov)
  • Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects. (mayoclinic.org)
  • Treatments are available for some symptoms of Klinefelter syndrome - for example, testosterone therapy can help men who have some feminine features. (sharedjourney.com)
  • Also, androgen deficiency-like symptoms and end-organ deficits respond to targeted treatments (such as phosphodiesterase-5 inhibitors for erectile dysfunction) without evidence that hypogonadal men are refractory. (medscape.com)
  • Down syndrome , now known as trisomy 21, is when a child has an extra chromosome. (epnet.com)
  • Male hypogonadism is a syndromic diagnosis based on consistent clinical symptoms and signs of androgen deficiency and repeatedly low serum testosterone levels. (medscape.com)
  • Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. (vicc.org)
  • Malignant extragonadal germ cell tumors may cause signs and symptoms as they grow into nearby areas. (vicc.org)
  • Although 90-100% of malignant germ cell tumors are symptomatic, only 50% of teratomas produce symptoms. (medscape.com)
  • Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. (mayoclinic.org)
  • Throughout their development, the syndrome prevents their bodies from producing enough of the male sex hormone testosterone. (sharedjourney.com)
  • Your GP may suspect Klinefelter problem following an examination that is physical may recommend delivering off an example of blood to test reproductive hormone levels. (alvamater.com)
  • This data will allow for population estimates of the selected steriod hormones and related binding protein that can be used to assist in disease diagnosis, treatment, and prevention of disease such as, Polycystic Ovary Syndrome (PCOS), androgen deficiency, cancer, and hormone imbalances in children. (cdc.gov)
  • Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
  • Rett syndrome (MIM 312750) is a neurodevelopmental disorder affecting postnatal brain growth, with a prevalence estimated to be 1:10,000 to 22,000 females. (neurology.org)
  • Medication and therapies may help improve the symptoms of XYY syndrome and reduce complications. (askapollo.com)
  • The symptoms of this condition which impedes cognitive and physical development vary from one affected person to another. (hxbenefit.com)
  • Whether an individual having KS will show nearly all the symptoms related to the condition or just a few, depends on the factors mentioned above. (hxbenefit.com)
  • Klinefelter syndrome is not a genetic or hereditary condition but transpires due to a randomized error in chromosomal patterning. (hxbenefit.com)
  • The chances of you actually having Klinefelter syndrome are very small (somewhere between 1 in 500 and 1 in 1000 men have the condition). (sharedjourney.com)
  • 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. (doctors.am)
  • But, there are a variety of ways to treat the symptoms of the XXY condition. (doctors.am)
  • Klinefelter syndrome (47, XXY) is a condition that occurs in men who have an extra X chromosome, resulting in an XXY sex chromosome karyotype. (healthguidenet.com)
  • There is no remedy for Klinefelter problem, however some regarding the issues linked to the condition can usually be treated if required. (alvamater.com)
  • Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. (medscape.com)
  • The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for another reason - such as being older than age 35 or having a family history of genetic conditions. (mayoclinic.org)
  • Fetal alcohol syndrome is a leading environmental cause of mental retardation. (hpathy.com)
  • During fetal life , the symptom pattern depends on how severe the testosterone deficiency is. (healthrug.com)
  • Why is misdiagnosis more common in some rare genetic syndromes than others? (fdna.health)
  • Today, the term Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. (medscape.com)
  • Because men with Klinefelter syndrome tend to have low testosterone, they may have some physical characteristics that make them stand out from other men. (wdxcyber.com)
  • Doctors usually do a physical examination and ask questions about various symptoms to diagnose KS. (artfertilityclinics.com)
  • The symptoms make their presence felt in chiefly three areas associated with growth and progress-fine motor skills, gross motor skills, and physical development. (hxbenefit.com)
  • Klinefelter syndrome has physical, psychological, and behavioural symptoms. (hellovaia.com)
  • Infants and children with Klinefelter syndrome should be examined by their doctor at least every two years to monitor their physical development. (healthymale.org.au)
  • Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. (mayoclinic.org)
  • If you have a son with Klinefelter syndrome, you can help promote healthy mental, physical, emotional and social development. (mayoclinic.org)
  • Klinefelter syndrome is diagnosed by means of a physical exam, blood tests and a chromosome analysis. (sharedjourney.com)
  • The syndrome can affect different stages of language, physical, and social development. (healthguidenet.com)
  • Marfan syndrome is an inherited disease that affects the body's connective tissue, which provides support, strength, and elasticity to blood vessels, cartilage, heart valves, tendons, and other important parts of the physical body. (healthguidenet.com)
  • Newborns with this syndrome do not show any noticeable physical characteristics. (askapollo.com)
  • Systemic Lupus Erythematosus (SLE) is a chronic inflammatory autoimmune disorder associated with a wide range of symptoms and physical findings. (medscape.com)
  • The syndrome diagnosis is clinical based on physical and behavioral data which can be confirmed by the analysis of chromosome 15 segment (q11-q13) through methylation or in situ hybridization 10 . (bvsalud.org)
  • Male babies born with atypical cell chromosomal pattern (where they're more than one X chromosome) are at greater risk of demonstrating KS symptoms. (hxbenefit.com)
  • Klinefelter syndrome is a problem in which male babies are born with an extra X chromosome (XXY). (epnet.com)
  • The syndrome can also affect the way a male's body develops ( Kanakis, 2018 ). (ro.co)
  • Still, many people with the syndrome may not know they have it because their symptoms are mild or unnoticeable (Kanakis, 2018). (ro.co)
  • Some research has found that people with the syndrome may also be more prone to anxiety and depression ( Skakkebæk, 2018 ). (ro.co)
  • It is worthwhile to note that less than normal testosterone production is mainly behind the various problems attributable to Klinefelter Syndrome. (hxbenefit.com)
  • Other symptoms such as hurdles with the learning ability , developmental delays , and other behavioral problems can also help diagnose the syndrome. (askapollo.com)
  • However, most people with this syndrome live normal lives and seek help for specific problems such as behavioral changes and learning delays or difficulties through therapies. (askapollo.com)
  • Klinefelter syndrome may increase the risk of a problem with sexual function, lung disease, tooth problems, anxiety, and depression. (difference.wiki)
  • Fragile X syndrome is caused by problems in DNA on the X chromosome. (epnet.com)
  • Those with symptoms tend to have slightly lower IQ and problems with verbal skills. (epnet.com)
  • This clearly means: if a symptom of vaccination develops after mRNA vaccination, neither I nor any other therapist can help you, because DAMAGE CAUSED BY VACCINATION WILL BE GENETICALLY Irreversible. (techarp.com)
  • The excess information that is genetic either be carried in almost every cellular within the body or it could just influence some cells (known as mosaic Klinefelter syndrome). (alvamater.com)
  • When the extra chromosome results from an error in the cell division during the embryo's development, the boy may have a mosaic form of XYY syndrome. (askapollo.com)
  • 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. (medscape.com)
  • Note - because of the high degree of variability of the syndrome, many of these clinical characteristics can be present at birth or they can manifest later in childhood. (healthguidenet.com)
  • A physician can also diagnose XYY syndrome through clinical evaluation, patient history, and tests like karyotype (chromosomal analysis) or non-invasive prenatal testing (NIPT) that is used to detect the extra Y chromosome. (askapollo.com)
  • Measurement of SHBG can be an important indicator of an excessive/chronic androgenic action where androgen levels are normal, but where clinical symptoms would seem to indicate androgen in excess. (cdc.gov)