AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesAnthropology, Education, Sociology and Social PhenomenaNamed Groups
Klinefelter SyndromeSperm RetrievalChromosomes, Human, XAzoospermiaSex Chromosome DisordersGynecomastiaChromosomes, Human, YKaryotypingSex Chromosome AberrationsAneuploidyGonadal Dysgenesis, 46,XXPrimed In Situ LabelingXYY KaryotypeChromosomesSyndromeInfertility, MaleMosaicismChromosome MappingOligospermiaIn Situ Hybridization, FluorescenceBreast Neoplasms, MaleFathersTestisX ChromosomeTestosteroneChromosome BandingChromosome Aberrations
AbnormalitiesKaryotypePatients with Klinefelter syndromeKlinefelter's SyndromePair of sex chromosomesForm of primary testicular failureLeast one extra X chromosomeTurnerAbnormalSymptomsInfertilityTestosteronePrevalenceCellsSpermHypogonadismGenes on the X chromosomeVariationsTestesExtraPubertyInfertileNonmosaicMutationsRettDisorderMitosisTypicallyMeiosisNeurocutaneousAutosomalFemalesGene1942OrganismsHumansFather'sSkeletonSomaticComplementHormonesAXYSCounselingTesticularSupernumeraryHereditaryFertilityIndividualsPartners pregnantCopies
Abnormalities8
  • The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. (medscape.com)
  • Quantified testicular histology in boys with sex chromosome abnormalities. (springer.com)
  • Scientists believe the XXY condition is one of the most common chromosome abnormalities in humans. (doctors.am)
  • The researchers suggest their new statistical method to analyse the genetic data can be further improved to study different chromosomal abnormalities, including Down Syndrome, in other archaeological specimens but also in forensics and pre-natal diagnosis settings. (edu.au)
  • Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. (biomedcentral.com)
  • Overview of Sex Chromosome Abnormalities Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. (msdmanuals.com)
  • In general, the extent of phenotypic abnormalities, including mental retardation, is directly related to the number of supernumerary X chromosomes. (medscape.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)
Karyotype9
  • Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. (mayoclinic.org)
  • [ 1 ] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a chromosomal disorder in which there is an extra X chromosome, resulting in the karyotype 47,XXY. (medscape.com)
  • 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)
  • 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)
  • Tortoiseshell male cats do, however, occur at a low frequency among tortoiseshell cats because of chromosome aberrations similar to the Klinefelter syndrome in man: the extra X chromosome of a 39,XXY karyotype introduces the possibility of an orange and a non-orange allele which produce the mixture of orange and non-orange coat spotting known as tortoiseshell. (karger.com)
  • Chromosome analysis using RBA-banding consistently revealed a 39,XXY karyotype. (karger.com)
  • Embryos can have an extra sex chromosome, as seen in Klinefelter syndrome, which is characterized by XXY karyotype. (mdedge.com)
  • Embryos can also be devoid of a sex chromosome, as observed in Turner's syndrome, which is characterized by an XO karyotype. (mdedge.com)
  • It is defined classically by a 47,XXY karyotype with variants that demonstrate additional X and Y chromosomes. (medscape.com)
Patients with Klinefelter syndrome2
  • Infertility in patients with Klinefelter syndrome: optimal timing for sperm and testicular tissue cryopreservation. (springer.com)
  • The hypothalamic-pituitary-gonadal axis is altered in pubertal patients with Klinefelter syndrome. (medscape.com)
Klinefelter's Syndrome11
  • Centerwall WR, Benirschke K: An animal model for the XXY Klinefelter's syndrome in man: tortoiseshell and calico male cats. (karger.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)
  • This book presents the latest insights into all the critical aspects of Klinefelter's Syndrome, in order to promote a more homogeneous a medical approach to this condition, leading to better and more "evidence-based" support, and improving patient satisfaction. (stanford.edu)
  • 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)
  • This case report highlights the importance of Klinefelter's syndrome as a predisposing factor for venous thromboembolism. (tidsskriftet.no)
  • The course illustrates the challenges of pulmonary embolism and the association with Klinefelter's syndrome. (tidsskriftet.no)
  • Several studies have shown an increased incidence of venous thromboembolism in patients with Klinefelter's syndrome. (tidsskriftet.no)
  • Klinefelter's syndrome is a persistent risk factor for recurrent thromboembolism. (tidsskriftet.no)
  • Thus, Klinefelter's syndrome impacts both the diagnosis and treatment of thromboembolic disease. (tidsskriftet.no)
  • Diagnosing Klinefelter's syndrome in a 1000-year-old skeleton. (edu.au)
Pair of sex chromosomes2
Form of primary testicular failure1
  • 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)
Least one extra X chromosome1
Turner4
Abnormal3
  • Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. (mayoclinic.org)
  • This value implies that in a group of 1000 unaffected pregnant women, one pregnant woman will receive an abnormal (that is, positive) test result, although her unborn child is in fact not affected by a chromosome disorder. (lifecodexx.com)
  • Whether the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or due to abnormal function of X chromosome linked genes is unclear. (medscape.com)
Symptoms8
  • 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)
  • About one of every 500 males has an extra X chromosome, but many don't have any 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)
Infertility11
  • 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)
  • 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)
  • Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia, as seen in polysomy X males. (medscape.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)
  • Due to chromosome aneuploidy, KS children undergo a progressive testicular impairment leading to spermatogenic failure and infertility (Foresta et al. (springer.com)
  • 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)
  • Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism and infertility. (medscape.com)
Testosterone4
Prevalence4
  • XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. (medscape.com)
  • The syndrome is caused by an extra X-chromosome in men, among whom the prevalence is estimated to be 1:500−1:1000. (tidsskriftet.no)
  • The researchers say the findings will help establish a historic record for Klinefelter Syndrome, as well as enhance understanding of its prevalence throughout human history. (edu.au)
  • 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)
Cells16
  • Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in nearly all somatic cells (cells other than egg and sperm cells). (wikipedia.org)
  • 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)
  • Human beings have cells with 46 chromosomes -2 sex chromosomes and 22 pairs of autosomal (non-sex) chromosomes. (health.am)
  • 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)
  • when the cells divide, they go through a process called meiosis which gives the sperm the correct number of chromosomes and another process which gives the sperm it characteristic appearance. (ivf1.com)
  • The Z chromosomes contain instructions for some of the proteins normally functioning cells should produce, and having only a single copy of a chromosome can result in a reduced amount of proteins produced, because protein production is often affected by the number of gene copies. (newswise.com)
  • Generally, men have one copy of the X chromosome and one copy of the Y chromosome in each of their cells. (sharedjourney.com)
  • Klinefelter males, on the other hand, have at least one spare X - so the make-up of Klinefelter cells will be XXY. (sharedjourney.com)
  • Chromosomes are structures within cells that contain DNA and many genes. (msdmanuals.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)
  • Scientists from the Dana-Farber Cancer Institute have found some male cancer cells, those with X and Y chromosomes, show signs of having their X chromosome silenced. (sciencealert.com)
  • In normal mammal cells, the X chromosome is only muted when a female cell has a pair of Xs to choose from. (sciencealert.com)
  • But if there is just one X chromosome, as with most male cells, neither the X nor the Y needs to be inactivated. (sciencealert.com)
  • The gene is a non-coding sequence made of RNA found in the cells of placental mammals that plays a key role in the silencing of genes on X chromosomes. (sciencealert.com)
  • For instance, the authors sometimes found two X chromosomes in male cancer cells. (sciencealert.com)
  • Objective: To explore the effects and mechanism of annexin A1 (ANXA1)-overexpressing human adipose-derived mesenchymal stem cells (AMSCs) in the treatment of mice with acute respiratory distress syndrome (ARDS). (bvsalud.org)
Sperm9
  • After comparing his work on locusts with Henking's and others, McClung noted that only half the sperm received an X chromosome. (wikipedia.org)
  • Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. (mayoclinic.org)
  • The mother's egg cell contains an X chromosome, while the father's sperm cell contains either an X or a Y chromosome. (medlineplus.gov)
  • Many men with this syndrome cannot produce enough sperm to have children. (medlineplus.gov)
  • 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)
  • 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)
  • Individuals with XY chromosomes are deemed male and will go on to develop testes, which are responsible for spermatogenesis (sperm production). (mdedge.com)
  • Males with the syndrome are often infertile, but sometimes the testes develop enough to produce sperm. (msdmanuals.com)
  • In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. (medscape.com)
Hypogonadism5
  • 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)
  • Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
  • [ 9 ] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. (medscape.com)
  • The major consequences of the extra sex chromosome, usually acquired through an error of nondisjunction during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
  • Klinefelter syndrome is the most common genetic form of male hypogonadism. (medscape.com)
Genes on the X chromosome2
Variations5
  • The Association for X and Y Chromosome Variations (AXYS) is dedicated to addressing the needs of those affected by one or more extra X and/or Y chromosomes. (genetic.org)
  • The Association for X and Y Variations (AXYS) is an advocacy, education and support organization for individuals with X and Y chromosome variations and their families. (rarediseases.org)
  • The name was changed to AXYS in 2014 to reflect all X and Y chromosome variations. (rarediseases.org)
  • These variations can impact fertility and expression of secondary sexual characteristics as the type of sex chromosomes present results in primary sex determination , or the development of gonads. (mdedge.com)
  • Sex-chromosome copy number variations are also implicated in the risk of SLE. (medscape.com)
Testes2
  • The X chromosome carries genes that have a role in many organ systems, playing a part, for example, in testes function, brain development, and growth. (medscape.com)
  • Adult Klinefelter men may have smaller-than-average testes . (sharedjourney.com)
Extra17
Puberty3
  • Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. (mayoclinic.org)
  • Some people who don't go through puberty at the normal time have problems with their chromosomes, which are made up of DNA that contain our body's construction plans. (kidshealth.org)
  • 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)
Infertile2
Nonmosaic1
  • Aksglaede L, Skakkebaek NE, Almstrup K, Juul A: Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. (karger.com)
Mutations2
  • Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
  • une etude plus precise du chromosome Y et de l' ADN permettrait de verifier ou de rechercher des microdeletions ou des mutations responsables de ces anomalies. (bvsalud.org)
Rett1
  • 1 Rett syndrome (RTT) is thought to be the one of the most common genetic causes of mental retardation in girls, second only to Down syndrome. (neurology.org)
Disorder6
  • Klinefelter syndrome is a genetic disorder affecting 1 in every 500 to 1 in every 1000 men in the United States. (wdxcyber.com)
  • A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and the specific allele on one or both members of a chromosome pair. (health.am)
  • Klinefelter syndrome is the most common genetic disorder in men. (sharedjourney.com)
  • Klinefelter syndrome is the most common sex chromosome disorder and occurs in about 1 in every 500 live male births. (msdmanuals.com)
  • If the measured analysis values of the chromosome examined in each case are within normal limits, this means that it is highly likely that the corresponding chromosomal disorder is not present in your unborn child (negative test result). (lifecodexx.com)
  • Klinefelter syndrome is the most common sex chromosome disorder. (msdmanuals.com)
Mitosis2
  • All chromosomes normally appear as an amorphous blob under the microscope and take on a well-defined shape only during mitosis. (wikipedia.org)
  • It is entirely coincidental that the Y chromosome, during mitosis, has two very short branches which can look merged under the microscope and appear as the descender of a Y-shape. (wikipedia.org)
Typically3
Meiosis1
  • Henking was studying the testicles of Pyrrhocoris and noticed that one chromosome did not take part in meiosis. (wikipedia.org)
Neurocutaneous1
  • A type of neurocutaneous syndrome that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones. (hopkinsmedicine.org)
Autosomal2
  • The pairs of autosomal chromosomes (one from the mother and one from the father) carry basically the same information. (health.am)
  • Since the autosomal chromosomes are paired, there are 2 copies of each gene. (health.am)
Females4
  • The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. (wikipedia.org)
  • Both males and females retain one of their mother's X chromosomes, and females retain their second X chromosome from their father. (wikipedia.org)
  • Females, instead, may stay healthy and only be carrier of genetic illness, since they have another X chromosome and possibility to have healthy gene copy. (wikipedia.org)
  • In the case of the softshell turtles included in the study, the sex chromosomes are referred to as Z and W, and it's the females of the species who have mismatched, or ZW, chromosomes. (newswise.com)
Gene1
  • Analyzing thousands of genomes representing more than 30 different cancers, researchers found the gene responsible for silencing the X chromosome - known as X-inactive specific transcript, or XIST - is highly expressed in a wider variety of cancerous tissues than they'd ever suspected. (sciencealert.com)
19422
  • 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)
  • The syndrome is named after Harry Klinefelter, the endocrinologist who first identified it in 1942. (sharedjourney.com)
Organisms3
  • Newswise - AMES, Iowa - A new study led by an Iowa State University scientist sheds light on how organisms have evolved to address imbalances in sex chromosomes. (newswise.com)
  • Many organisms determine their sex by a pair of specialized chromosomes that appear in virtually every cell of an organism's body. (newswise.com)
  • The study sheds light on how organisms have evolved to address such imbalances through a process called sex chromosome dosage compensation, or SCDC. (newswise.com)
Humans1
Father's1
Skeleton2
Somatic1
  • As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. (medscape.com)
Complement2
  • We analyzed the chromosome complement of a fibroblast culture and did histological examinations of testicular tissue from a tortoiseshell male cat referred to us. (karger.com)
  • As no sign of spermatogenesis was detected, we conclude that this is a classic case of a sterile, male tortoiseshell cat with a 39,XXY chromosome complement. (karger.com)
Hormones2
  • Describing a person with a less common combination of hormones, chromosomes, and anatomy that are used to assign sex at birth. (unomaha.edu)
  • These data suggest that the predisposition of women to developing SLE is related to X chromosome copy number, not to sex or sex hormones. (medscape.com)
AXYS1
Counseling1
Testicular2
  • Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)
  • Aksglaede I, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. (springer.com)
Supernumerary1
  • The intelligence quotient (IQ) score is reduced by approximately 15 points for each supernumerary X chromosome, but conclusions about reduced mental capacity must be drawn cautiously. (medscape.com)
Hereditary1
Fertility1
  • Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. (springer.com)
Individuals3
  • Treatment, health education and social support can greatly benefit individuals with Klinefelter syndrome. (mayoclinic.org)
  • These chromosomes also contain the genetic codes for the production of essential proteins, and the disproportion in chromosomes in XY individuals caused by them carrying only a single X for every pair of non-sex chromosomes (called autosomes) can lead to an imbalance in the production of proteins. (newswise.com)
  • Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. (newswise.com)
Partners pregnant1
Copies1
  • Cancers proliferate rapidly, and this can lead to mistakes, like multiple copies of the same chromosome. (sciencealert.com)