• Contact your provider if your child has any signs or symptoms of Klinefelter syndrome. (medlineplus.gov)
  • 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)
  • Klinefelter syndrome is named after Dr. Henry Klinefelter, who first described a group of symptoms found in some men with the extra X chromosome. (doctors.am)
  • Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all of those symptoms. (doctors.am)
  • 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)
  • 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)
  • Treatments are available for some symptoms of Klinefelter syndrome - for example, testosterone therapy can help men who have some feminine features. (sharedjourney.com)
  • 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)
  • Still, many people with the syndrome may not know they have it because their symptoms are mild or unnoticeable (Kanakis, 2018). (ro.co)
  • Along with these developmental and reproductive symptoms, Klinefelter syndrome can lead to changes in how a person's brain forms and develops. (ro.co)
  • 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)
  • This is because even for those with mild symptoms, most men with Klinefelter syndrome produce very few or no sperm and are infertile . (healthymale.org.au)
  • The symptoms of Klinefelter syndrome stem from a lower-than-normal production of testosterone , and the effects the extra X chromosome(s) have on the body's development and function. (healthymale.org.au)
  • Effects of the syndrome will vary from one individual to another and not all the males portray the same symptoms and signs. (premiumessays.net)
  • It is named after Dr. Henry Klinefelter who first discovered the syndrome in 1942 and was able to link the symptoms back to men with an extra X chromosome. (clinicforhim.com)
  • Klinefelter problem doesn't often cause any symptoms that are obvious in childhood, and also the subsequent signs can be tough to spot. (alvamater.com)
  • Visit your GP in yourself or your son if you have concerns about your son's development or you notice any troubling symptoms of Klinefelter syndrome. (alvamater.com)
  • Symptoms of Klinefelter syndrome are smaller testes, less production of testosterone. (difference.wiki)
  • 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)
  • As reported by Medscape Medical News , analysis of 3000 men in eight European countries indicated that men with normal total testosterone but low free testosterone levels had more signs and symptoms of hypogonadism than those with low total-testosterone levels only. (medscape.com)
  • These disorders may be genetic, such as Klinefelter's syndrome, or acquired due to trauma , infection, reduced blood flow, or aging . (medicinenet.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)
  • Men with Klinefelter's syndrome usually start testosterone replacement therapy (TRT) in early adolescence and take it life long. (excelmale.com)
  • Klinefelter's syndrome is a common sex chromosomal defect in humans that continues to be a major genetic cause of infertility in men. (scitechnol.com)
  • In our gynaecological clinic, we reported the first occurrence of Klinefelter's syndrome in an adolescent. (scitechnol.com)
  • Foresta C, Galeazzi C, Bettella A, Marin P, Rossato M, Garolla A, Ferlin A. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. (springer.com)
  • Palermo GD, Schlegel PN, Sills ES, Veeck LL, Zaninovic N, Menendez S, Rosenwaks Z. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. (springer.com)
  • What are the diagnostic points in klinefelter's syndrome? (medicosnotes.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)
  • 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)
  • Until 1996, men with Klinefelter syndrome were considered infertile. (medscape.com)
  • In almost all cases, these men have can have a normal sex life, but the defect in their testicles makes them infertile. (sharedjourney.com)
  • Males with the syndrome are often infertile, but sometimes the testes develop enough to produce sperm. (msdmanuals.com)
  • Klinefelter syndrome - a condition that causes men to have more than one X chromosome, which produces longer legs, higher voice, thinner beard, smaller testicles and being infertile. (holyname.org)
  • They can have a normal sex life, but remain infertile. (newhealthadvisor.org)
  • Patients with that syndrome are usually infertile, however in about half the cases, it is possible to fi nd spermatozoa in the testes, and have a higher risk of i.e. breast cancer, metabolic syndrome, cardiovascular disease, osteopenia/osteoporosis, autoimmune diseases. (postepyandrologii.pl)
  • 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)
  • 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)
  • An almost certain consequence of having the syndrome is permanent infertility. (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)
  • See our section on Klinefelter treatment, under Male Infertility: Drugs and Treatment, for more information. (sharedjourney.com)
  • Testicular biopsy is indicated in azoospermic men with a normal-sized testis and normal findings on hormonal studies to evaluate for ductal obstruction, to further evaluate idiopathic infertility, and to retrieve sperm. (medscape.com)
  • Sometimes the syndrome causes infertility . (epnet.com)
  • In Klinefelter syndrome (KS) the topic of fertility vs. infertility is of major concern since that, until recent years, infertility was considered an untreatable condition in KS. (springer.com)
  • Infertility in patients with Klinefelter syndrome: optimal timing for sperm and testicular tissue cryopreservation. (springer.com)
  • Klinefelter syndrome is the most common (0,1-0,2% male newborns), genetic form of infertility and hypergonadotropic hypogonadism in men. (postepyandrologii.pl)
  • Treatment of this syndrome is also hormone therapy and infertility treatment in some cases. (difference.wiki)
  • 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)
  • Turner syndrome is when one of a female's two X chromosomes is abnormal or missing. (kidshealth.org)
  • 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)
  • Klinefelter syndrome refers to a collection of characteristics in males that are caused by having two or more X chromosomes. (healthymale.org.au)
  • Androgen receptor gene quantitative real-time PCR (AR-qPCR) technique: A simple and reliable screening method for diagnosis of patients with Klinefelter syndrome or other chromosomal disorders involving an aberrant number of X-chromosomes. (medscape.com)
  • In Turner syndrome, girls are born with one of the two X chromosomes partly or completely missing. (epnet.com)
  • 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)
  • Many men with this syndrome cannot produce enough sperm to have children. (medlineplus.gov)
  • There are men with Klinefelter syndrome all over the world who have become fathers through adoption, or assisted reproduction procedures using sperm from an anonymous donor. (wdxcyber.com)
  • XXY males can have normal sex lives, but they usually make little or no sperm. (doctors.am)
  • At least 60% of the sperm should have a normal shape and show normal forward movement (motility). (ucsfhealth.org)
  • Often it is not diagnosed until adulthood and it is considered to be a type of hypogonadism that affects testicle growth, lower levels of testosterone are produced, which is why the majority of men who have Klinefelter syndrome produce little or no sperm. (institutobernabeu.com)
  • The presence of both normal and abnormal cells (mosaic) is due to abnormal cell division after the egg is fertilized by the sperm. (newhealthadvisor.org)
  • Often, the syndrome is not diagnosed till adulthood and most men with the syndrome will report to produce little to no sperm. (premiumessays.net)
  • Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. (springer.com)
  • 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)
  • 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)
  • 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)
  • Sometimes, though, kids pass this normal age range for puberty without showing any signs of body changes. (kidshealth.org)
  • Women who have Turner syndrome are shorter than normal, may not go through puberty in the usual way, and may have other medical problems. (kidshealth.org)
  • Sometimes, puberty starts at a normal time, and then stalls or stops after a few years. (kidshealth.org)
  • Puberty usually starts at a normal time, but then stalls. (kidshealth.org)
  • Puberty usually occurs at the normal time, but the testes remain small. (msdmanuals.com)
  • They develop breasts, have ovaries and go through puberty normal and can carry their own child in pregnancy. (majordifferences.com)
  • During childhood and early puberty: Relatively normal pituitary-gonadal function is observed in 47,XXY individuals. (medscape.com)
  • In patients with mosaicism, progressive degeneration and hyalinization of seminiferous tubules take place after puberty despite the presence of normal-sized testes and spermatogenesis at puberty. (medscape.com)
  • Puberty happens at the normal time, but the testes stay small. (epnet.com)
  • The syndrome is not suspected until puberty. (epnet.com)
  • Wikstrom AM, Raivio T, Hadziselimovic F, Wikstrom S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. (springer.com)
  • 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)
  • In childhood and early puberty activity of the hypothalamo-pituitary-testicular axis is usually normal. (postepyandrologii.pl)
  • Hypogonadism is understood to be when the gonads (testicles in men and ovaries in women) produce low amounts of hormones or none at all or when the hypothalamus is incapable of producing normal levels of the GnRH (gonadotropin-releasing hormone). (institutobernabeu.com)
  • This occurs when there is a problem in the gonads (ovaries or testicles ) and they cannot secrete normal levels of hormones. (institutobernabeu.com)
  • The effects of chemotherapy and radiotherapy might affect the normal levels of hormones produced by the testicles and the ovaries, which results in a decline in fertility. (institutobernabeu.com)
  • The syndrome affects testicular growth adversely resulting to testicles that are smaller than normal. (premiumessays.net)
  • An abnormal human female phenotype, called Turner syndrome , was described by H. H. Turner and associates 1938. (majordifferences.com)
  • About 1% of cases are due to a structurally abnormal X in addition to a normal X and Y, such as 47,X,i(Xq)Y and 47,X,del(X)Y. (medscape.com)
  • High estrogen levels - estrogen stimulates cell growth, both normal and abnormal. (holyname.org)
  • Each year, about 6,000 babies are born in the United States with Down syndrome, a disorder caused by abnormal cell division that results in an extra chromosome, specifically chromosome 21. (newhealthadvisor.org)
  • It also determines the sex of an individual and can help diagnose abnormal conditions such as the Down syndrome. (newhealthadvisor.org)
  • Edwards syndrome is also known as trisomy 18, because the baby has an extra chromosome 18 in all or some of their body cells. (newhealthadvisor.org)
  • Down syndrome , now known as trisomy 21, is when a child has an extra chromosome. (epnet.com)
  • Individuals with Turner syndrome are monosomy 45X (2n-1) as one X chromosome is deleted while an individual with Klinefelter syndrome is trisomy 47X (2n+1) as one X chromosome is extra. (difference.wiki)
  • Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births. (wikipedia.org)
  • Medical treatments - Testosterone replacement therapy (TRT) can greatly help XXY males get their testosterone levels into normal range. (doctors.am)
  • 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)
  • After midpuberty: Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels increase to hypergonadotropic levels, inhibin B decreases to undetectable levels, and testosterone levels return to low or low-normal levels after an initial increase. (medscape.com)
  • Harmonized reference normal ranges for testosterone levels in healthy, nonobese men have been generated in a landmark study that should aid in accurately diagnosing hypogonadism , say US investigators. (medscape.com)
  • 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)
  • 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)
  • 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)
  • The syndrome can also affect the way a male's body develops ( 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)
  • In very few patients, only some cells contain extra chromosome 21, while others appear normal (mosaic form). (newhealthadvisor.org)
  • 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)
  • Throughout their development, the syndrome prevents their bodies from producing enough of the male sex hormone testosterone. (sharedjourney.com)
  • Similarly, cirrhosis of the liver alters normal hormone metabolism and may lead to gynecomastia. (medicinenet.com)
  • They may run diagnostic blood tests to gauge your hormone levels and take your medical history to determine if your growth pattern is normal and healthy. (columbia.edu)
  • 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)
  • Except for a low level of Follicle Stimulating Hormone (FSH), the hormonal profile was normal. (scitechnol.com)
  • Klinefelter syndrome is responsible for the less production of testosterone, the hormone which is essential for the primary characteristics of the males. (difference.wiki)
  • Treatment of Turner syndrome is hormone therapy in which growth hormones injections are given to affected girls. (difference.wiki)
  • Background: The relationship between normal thyroid-stimulating hormone (TSH) levels and thyroid disease in adults remains controversial. (bvsalud.org)
  • 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)
  • The Turner syndrome is due to monosomy X (45, X). This monosomic has a chromosome complement of 44 autosomes and one X chromosome (44+XO). (majordifferences.com)
  • 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)
  • Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. (springer.com)
  • Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. (medscape.com)
  • Klinefelter syndrome may be diagnosed prenatally based on cytogenetic analysis of a fetus. (medscape.com)
  • The only known risk factor for extragonadal germ cell tumors is Klinefelter syndrome (47XXY), which is associated with mediastinal nonseminomatous germ cell tumors, which are characterized by their location on the midline from the pineal gland to the coccyx. (medscape.com)
  • Individuals with this syndromes are phenotypically males but with tendency towards femaleness. (majordifferences.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)
  • Many newborns with Turner syndrome have swelling on the backs of their hands and tops of their feet. (epnet.com)
  • Klinefelter problem just isn't necessarily such a thing severe, but therapy often helps reduce a few of the signs if required. (alvamater.com)