• 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)
  • Hypostatic ulcers in 47,XXY Klinefelter's syndrome. (uchicago.edu)
  • PubMed was searched for 'Klinefelter,' 'Klinefelter's,' and 'XXY' in titles and abstracts. (mensfe.net)
  • Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function. (mensfe.net)
  • Klinefelter's syndrome (KS) is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males. (mensfe.net)
  • Sexual dysfunction in subjects with Klinefelter's syndrome. (mensfe.net)
  • The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. (medscape.com)
  • Rovenský J. Rheumatic diseases and Klinefelter's syndrome. (medscape.com)
  • Genital anomalies in Klinefelter's syndrome. (medscape.com)
  • 10th May is Klinefelter's Syndrome Awareness Day in the UK Klinefelter's Syndrome affects 1 in 600 males but 75% are never diagnosed. (ksa-uk.net)
  • Men with Klinefelter's syndrome usually start testosterone replacement therapy (TRT) in early adolescence and take it life long. (excelmale.com)
  • What are the symptoms of Klinefelter's syndrome? (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)
  • 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 a condition in which men have an extra X chromosome in most of their cells - an XXY pattern instead of the normal XY pattern that most men have. (medwonders.com)
  • Would you like to join the Klinefelter's Syndrome support group? (medwonders.com)
  • Are you sure you want to be removed from the Klinefelter's Syndrome support group? (medwonders.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)
  • 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)
  • 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)
  • Transsexual development of a patient with Klinefelter's Syndrome. (bvsalud.org)
  • Klinefelter syndrome can make it difficult for people with this condition to have biological children (a condition called infertility), but up to half of people with Klinefelter syndrome may be able to have children using assisted reproductive technologies. (medlineplus.gov)
  • 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)
  • 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)
  • See our section on Klinefelter treatment, under Male Infertility: Drugs and Treatment, for more information. (sharedjourney.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 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)
  • The hypogonadism may lead to changes in body composition and a risk of developing metabolic syndrome and type 2 diabetes. (mensfe.net)
  • Accordingly, clinical studies indicate that sexual dysfunctions, eventually present in KS, are not specifically associated with the syndrome but are related to the underlying hypogonadism. (mensfe.net)
  • Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of isolated hypogonadotropic hypogonadism. (medscape.com)
  • By definition, either anosmia (lack of sense of smell) or severe hyposmia is present in patients with Kallmann syndrome, in contrast to patients with idiopathic hypogonadotropic hypogonadism, whose sense of smell is normal. (medscape.com)
  • MRI of the brain in patients with Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH). (medscape.com)
  • Deficient hypothalamic GnRH secretion underlies the markedly abnormal gonadotropin secretion patterns in most patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • Some of the genes involved in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism have been identified. (medscape.com)
  • [ 3 ] In addition, mutations of the gene encoding chromodomain-helicase DNA-binding protein 7 ( CHD7 ) have been found in some patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism, some of whom have features of the CHARGE syndrome (characterized by delayed growth and development, congenital cardiac defects, dysmorphic ears, hearing loss, coloboma of the eyes). (medscape.com)
  • Loss-of-function mutations of critical components of the prokineticin pathway have been implicated in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. (medscape.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)
  • 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)
  • 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)
  • 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)
  • Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. (umcvc.org)
  • 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)
  • Klinefelter syndrome: expanding the phenotype and identifying new research directions. (uchicago.edu)
  • Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors. (medscape.com)
  • An abnormal human female phenotype, called Turner syndrome , was described by H. H. Turner and associates 1938. (majordifferences.com)
  • To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). (qxmd.com)
  • Using an investigator-developed Klinefelter Phenotype Index Scale, the number of KS physical traits ranged from 1-13 (mean 5.1 ± 1.9). (qxmd.com)
  • The Klinefelter Phenotype Index Scale may be a useful tool to characterize KS features in boys. (qxmd.com)
  • It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s. (wikipedia.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)
  • 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)
  • 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)
  • Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)
  • Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. (medscape.com)
  • The syndrome affects testicular growth adversely resulting to testicles that are smaller than normal. (premiumessays.net)
  • Aksglaede I, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. (springer.com)
  • 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)
  • People with Klinefelter syndrome have an increased risk of developing metabolic syndrome, which is a group of conditions that include high blood glucose levels during prolonged periods without food (fasting), high blood pressure ( hypertension ), increased belly fat, and high levels of fats (lipids) such as cholesterol and triglycerides in the blood. (medlineplus.gov)
  • Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects development in people who are assigned male at birth. (medlineplus.gov)
  • People with Klinefelter syndrome are more likely than those without Klinefelter syndrome to have autism spectrum disorder , which is a developmental disorder that affects communication and social interaction. (medlineplus.gov)
  • Klinefelter syndrome affects about 1 in 650 newborns who were assigned male at birth. (medlineplus.gov)
  • Klinefelter syndrome is a genetic condition that affects males. (umcvc.org)
  • 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)
  • Individuals with Klinefelter syndrome may have have anxiety, depression , impaired social skills, or behavioral differences, such as emotional immaturity during childhood or difficulty with frustration. (medlineplus.gov)
  • Treatment, health education and social support can greatly benefit individuals with Klinefelter syndrome. (mayoclinic.org)
  • 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)
  • Individuals with this syndromes are phenotypically males but with tendency towards femaleness. (majordifferences.com)
  • Mutations of the KAL1 gene, which encodes a putative neural cell adhesion molecule (anosmin), have been described in several patients with X-linked Kallmann syndrome. (medscape.com)
  • Loss-of-function mutations of the gene encoding fibroblast growth factor receptor 1 (FGFR1) have been described in patients with autosomal dominant Kallmann syndrome. (medscape.com)
  • Mutations of the gene encoding fibroblast growth factor 8 have been found in a small minority of patients with autosomal dominant Kallmann syndrome. (medscape.com)
  • [ 7 ] Homozygous, heterozygous or compound heterozygous mutations of the prokineticin receptor 2 have also been associated with Kallmann syndrome. (medscape.com)
  • 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)
  • Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. (mayoclinic.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)
  • 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)
  • Klinefelter syndrome is not a genetic or hereditary condition but transpires due to a randomized error in chromosomal patterning. (hxbenefit.com)
  • People with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves. (medlineplus.gov)
  • 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)
  • Clinical review: Klinefelter syndrome--a clinical update. (mensfe.net)
  • Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. (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)
  • Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. (wikipedia.org)
  • Klinefelter males are born with the condition. (sharedjourney.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)
  • 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)
  • Klinefelter syndrome (or 47,XXY or XXY syndrome) is a condition in which males have an extra X chromosome. (clinicalpub.com)
  • Learn more about this condition from experts, meet others who have it, and network with them by joining our online support group for people with Klinefelters' syndrome. (medwonders.com)
  • Klinefelter Syndrome (KS) is a condition that only occurs in men as a result of an extra X chromosome. (clinicforhim.com)
  • Klinefelter syndrome is a rare genetic condition in which a male has an extra X chromosome. (cdc.gov)
  • Images reproduced from Quinton R, et al: The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. (medscape.com)
  • Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. (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)