klinefelter syndrome

Summary

Summary: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

Top Publications

  1. Herlihy A, Halliday J, Cock M, McLachlan R. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust. 2011;194:24-8 pubmed
    To determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international findings.
  2. Wikström A, Dunkel L. Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab. 2011;25:239-50 pubmed publisher
    b>Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty...
  3. Yarali H, Polat M, Bozdag G, Gunel M, Alpas I, Esinler I, et al. TESE-ICSI in patients with non-mosaic Klinefelter syndrome: a comparative study. Reprod Biomed Online. 2009;18:756-60 pubmed
    ..testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) treatment in patients with Klinefelter syndrome. The current study compared TESE-ICSI treatment in patients with non-mosaic Klinefelter syndrome with ..
  4. Mehta A, Paduch D. Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. Fertil Steril. 2012;98:274-83 pubmed publisher
    To investigate the impact of early hormone replacement therapy (HT) on sperm retrieval rates in patients with Klinefelter syndrome (KS).
  5. Ross J, Roeltgen D, Stefanatos G, Benecke R, Zeger M, Kushner H, et al. Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A. 2008;146A:708-19 pubmed publisher
    The goal of this study was to expand the description of the cognitive development phenotype in boys with Klinefelter syndrome (47,XXY)...
  6. Herlihy A, McLachlan R, Gillam L, Cock M, Collins V, Halliday J. The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genet Med. 2011;13:632-42 pubmed publisher
    There is considerable information regarding the medical and cognitive aspects of Klinefelter syndrome yet little research regarding its psychosocial impact...
  7. Bryant D, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, et al. Neuroanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry study. J Neurosci. 2011;31:6654-60 pubmed publisher
    b>Klinefelter syndrome (KS) is a genetic disorder characterized by a supernumerary X chromosome. As such, KS offers a naturally occurring human model for the study of both X-chromosome gene expression and androgen on brain development...
  8. Tartaglia N, Cordeiro L, Howell S, Wilson R, Janusz J. The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). Pediatr Endocrinol Rev. 2010;8 Suppl 1:151-9 pubmed
    The behavioral phenotype of 47,XXY (Klinefelter syndrome) includes increased risks for developmental delays, language-based learning disabilities, executive dysfunction/ADHD, and socialemotional difficulties...
  9. Visootsak J, Graham J. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42 pubmed
    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...

More Information

Publications62

  1. Seo J, Lee J, Oh T, Joo K. The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. BJU Int. 2007;99:141-6 pubmed
  2. Juul A, Aksglaede L, Lund A, Duno M, Skakkebaek N, Rajpert De Meyts E. Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: case report. Hum Reprod. 2007;22:1907-11 pubmed
    Patients with Klinefelter syndrome (47,XXY) are characterized by eunuchoid body proportions, gynaecomastia, small firm testes and azoospermia...
  3. Fennoy I. Testosterone and the child (0-12 years) with Klinefelter syndrome (47XXY): a review. Acta Paediatr. 2011;100:846-50 pubmed publisher
    To review the evidence base for providing testosterone therapy in the infant and prepubertal child with Klinefelter syndrome (KS).
  4. Aksglaede L, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. Eur J Endocrinol. 2013;168:R67-76 pubmed publisher
    b>Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys...
  5. Tüttelmann F, Gromoll J. Novel genetic aspects of Klinefelter's syndrome. Mol Hum Reprod. 2010;16:386-95 pubmed publisher
    ..Lessons learned from comparisons with normal males and especially females as well as other sex chromosomal aneuploidies are presented. In addition, genetic topics concerning fertility and counseling are discussed...
  6. Giltay J, Maiburg M. Klinefelter syndrome: clinical and molecular aspects. Expert Rev Mol Diagn. 2010;10:765-76 pubmed publisher
    b>Klinefelter syndrome is the most common chromosome abnormality in humans. The estimated prevalence is one in 500 to one in 1000 males but due to the widely variable and often aspecific features, only one in four cases are recognized...
  7. Herlihy A, Gillam L, Halliday J, McLachlan R. Postnatal screening for Klinefelter syndrome: is there a rationale?. Acta Paediatr. 2011;100:923-33 pubmed publisher
    Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan...
  8. Aksglaede L, Christiansen P, Sørensen K, Boas M, Linneberg A, Main K, et al. Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta Paediatr. 2011;100:839-45 pubmed publisher
    ..We therefore aimed at determining circulating AMH concentrations in patients with 47,XXY Klinefelter syndrome (KS) with or without cryptorchidism.
  9. Boks M, de Vette M, Sommer I, van Rijn S, Giltay J, Swaab H, et al. Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample. Schizophr Res. 2007;93:399-402 pubmed
    ..Nevertheless, these findings provide further support for the role of the X-chromosome in the susceptibility to psychiatric disorders in general and psychotic disorders in particular...
  10. Jha P, Sheth D, Ghaziuddin M. Autism spectrum disorder and Klinefelter syndrome. Eur Child Adolesc Psychiatry. 2007;16:305-8 pubmed
    ..However, few detailed case descriptions of patients with KS and autism have not been published...
  11. Cabrol S, Ross J, Fennoy I, Bouvattier C, Roger M, Lahlou N. Assessment of Leydig and Sertoli cell functions in infants with nonmosaic Klinefelter syndrome: insulin-like peptide 3 levels are normal and positively correlated with LH levels. J Clin Endocrinol Metab. 2011;96:E746-53 pubmed publisher
    b>Klinefelter syndrome (KS) is the most common sex chromosome disorder and a major cause of male infertility...
  12. Wikström A, Bay K, Hero M, Andersson A, Dunkel L. Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome. J Clin Endocrinol Metab. 2006;91:4705-8 pubmed
    ..Levels of the Leydig cell-specific hormone insulin-like factor 3 (INSL3) are incompletely characterized in boys during pubertal development...
  13. Kosowicz J, Owecki M, El Ali Z, Sowinski J. Premature fusion and excessive calcification of coronal sutures in patients with Klinefelter syndrome. Neuro Endocrinol Lett. 2006;27:137-41 pubmed
    The purpose of this paper is to report on radiographic features of the cranial vault abnormalities frequently seen but not yet described in detail in patients with Klinefelter syndrome.
  14. Ferlin A, Schipilliti M, Vinanzi C, Garolla A, Di Mambro A, Selice R, et al. Bone mass in subjects with Klinefelter syndrome: role of testosterone levels and androgen receptor gene CAG polymorphism. J Clin Endocrinol Metab. 2011;96:E739-45 pubmed publisher
    b>Klinefelter syndrome (KS) is a chromosomal alteration characterized by supernumerary X-chromosome(s), primary hypogonadism, decreased pubertal peak bone mineral density (BMD), and accelerated bone loss during adulthood...
  15. Radicioni A, Ferlin A, Balercia G, Pasquali D, Vignozzi L, Maggi M, et al. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. J Endocrinol Invest. 2010;33:839-50 pubmed
    Nearly 70 years after its description, Klinefelter syndrome (KS) remains a largely undiagnosed condition...
  16. Bojesen A, Hertz J, Gravholt C. Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation. Int J Androl. 2011;34:e642-8 pubmed publisher
    The phenotypic variation of Klinefelter syndrome (KS) is wide and may by caused by various genetic and epigenetic effects...
  17. Mehta A, Malek Jones M, Bolyakov A, Mielnik A, Schlegel P, Paduch D. Methylation-specific PCR allows for fast diagnosis of X chromosome disomy and reveals skewed inactivation of the X chromosome in men with Klinefelter syndrome. J Androl. 2012;33:955-62 pubmed
    b>Klinefelter syndrome (KS) remains the most common, yet often undiagnosed, chromosomal aberration in men. Early diagnosis and treatment can improve the health of patients with KS...
  18. Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?. Hum Reprod. 2010;25:588-97 pubmed publisher
    b>Klinefelter syndrome is a common genetic condition. Affected non-mosaic men are azoospermic and have been labelled as infertile...
  19. Swerdlow A, Higgins C, Schoemaker M, Wright A, Jacobs P. Mortality in patients with Klinefelter syndrome in Britain: a cohort study. J Clin Endocrinol Metab. 2005;90:6516-22 pubmed
    b>Klinefelter syndrome is characterized by hypogonadism and infertility, consequent on the presence of extra X chromosome(s)...
  20. Junik R, Kosowicz J. Reduced brain perfusion and neurocranial shape abnormalities of the temporal regions in patients with Klinefelter syndrome. Neuro Endocrinol Lett. 2005;26:593-8 pubmed
    In patients with Klinefelter syndrome dissocial behaviour, learning difficulties and low intelligence are common...
  21. Morris J, Alberman E, Scott C, Jacobs P. Is the prevalence of Klinefelter syndrome increasing?. Eur J Hum Genet. 2008;16:163-70 pubmed
  22. Bojesen A, Stochholm K, Juul S, Gravholt C. Socioeconomic trajectories affect mortality in Klinefelter syndrome. J Clin Endocrinol Metab. 2011;96:2098-104 pubmed publisher
    b>Klinefelter syndrome (KS) is associated with male infertility, hypogonadism, and learning disability. Morbidity and mortality are increased and the causes behind remain unknown...
  23. Wikström A, Painter J, Raivio T, Aittomaki K, Dunkel L. Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome. Clin Endocrinol (Oxf). 2006;65:92-7 pubmed
    ..the X chromosome influence growth, pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome (KS)...
  24. Zeger M, Zinn A, Lahlou N, Ramos P, Kowal K, Samango Sprouse C, et al. Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr. 2008;152:716-22 pubmed publisher
    To describe the Klinefelter Syndrome (KS) phenotype during childhood in a large cohort.
  25. Bojesen A, Gravholt C. Morbidity and mortality in Klinefelter syndrome (47,XXY). Acta Paediatr. 2011;100:807-13 pubmed publisher
    b>Klinefelter syndrome (KS) (47,XXY) is the most common sex chromosome disorder in man and is a relatively common cause of male infertility and hypogonadism...
  26. van Rijn S, Aleman A, Swaab H, Kahn R. Klinefelter's syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology. Br J Psychiatry. 2006;189:459-60 pubmed
    ..This may have implications for treatment of have implications for treatment of Klinefelter's syndrome and suggests that the X chromosome may be involved in the aetiology of schizophrenia...
  27. Tartaglia N, Ayari N, Howell S, D Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011;100:851-60 pubmed publisher
    ..While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and ..
  28. Uzicanin S, Catibusic F, Terzic S, Zubcevic S. Familiar spastic paraplegia presenting in a boy with Klinefelter syndrome--case report. Med Arh. 2007;61:52-3 pubmed
    In this case report, the boy with familiar spastic paraplegia, the relatively rare genetic disorder and Klinefelter syndrome that was found during investigation, has been presented...
  29. Schejbel L, Rosenfeldt V, Marquart H, Valerius N, Garred P. Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. Clin Immunol. 2009;131:456-62 pubmed publisher
    ..He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent otitis media (P=..
  30. Wattendorf D, Muenke M. Klinefelter syndrome. Am Fam Physician. 2005;72:2259-62 pubmed
    ..This review discusses Klinefelter syndrome.
  31. Frühmesser A, Kotzot D. Chromosomal variants in klinefelter syndrome. Sex Dev. 2011;5:109-23 pubmed publisher
    b>Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males...
  32. Vasudevan P, Quarrell O. Prader-Willi and Klinefelter syndrome: a coincidence or not?. Clin Dysmorphol. 2007;16:127-9 pubmed
    ..He is possibly the youngest to be reported with both Prader-Willi syndrome and Klinefelter syndrome. We have shown that the extra X chromosome causing Klinefelter syndrome is paternal in origin and Prader-..
  33. Ottesen A, Garn I, Aksglaede L, Juul A, Rajpert De Meyts E. A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene. Mol Hum Reprod. 2007;13:745-50 pubmed
    Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis...
  34. Bruining H, van Rijn S, Swaab H, Giltay J, Kates W, Kas M, et al. The parent-of-origin of the extra X chromosome may differentially affect psychopathology in Klinefelter syndrome. Biol Psychiatry. 2010;68:1156-62 pubmed publisher
    Several genetic mechanisms have been proposed for the variability of the Klinefelter syndrome (KS) phenotype such as the parent-of-origin of the extra X chromosome...
  35. Choe J, Kim J, Lee J, Seo J. Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome. Asian J Androl. 2007;9:815-20 pubmed
    To evaluate the occurrence of classical azoospermia factor (AZF) deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome (KS).
  36. Hadjkacem Loukil L, Ghorbel M, Bahloul A, Ayadi H, Ammar Keskes L. Genetic association between AZF region polymorphism and Klinefelter syndrome. Reprod Biomed Online. 2009;19:547-51 pubmed
    Because of conflicting results about the association between azoospermic patients with Klinefelter syndrome (KFS) and azoospermia factor (AZF) polymorphism, and because nothing is known about the association of KFS with partial AZFc ..
  37. Stemkens D, Broekmans F, Kastrop P, Hochstenbach R, Smith B, Giltay J. Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins. Am J Med Genet A. 2007;143A:1906-11 pubmed
    b>Klinefelter syndrome (KS; 47, XXY) is characterized by increased body height, hypergonadotrophic hypogonadism, and infertility. We describe a patient with a variant KS (47,X,i(Xq),Y) who has a twin brother with a 46,XY karyotype...
  38. Schiff J, Palermo G, Veeck L, Goldstein M, Rosenwaks Z, Schlegel P. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab. 2005;90:6263-7 pubmed
    The aim of this study was to report the successful fertility treatment of men with Klinefelter syndrome using testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI).
  39. Wikström A, Dunkel L. Testicular function in Klinefelter syndrome. Horm Res. 2008;69:317-26 pubmed publisher
    b>Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty...
  40. Bojesen A, Juul S, Birkebaek N, Gravholt C. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab. 2006;91:1254-60 pubmed
    b>Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man; it affects approximately one in 660 men and is a common cause of hypogonadism and infertility...
  41. Ahmed S, Hafeez S, Ali N, Ahmed T. Hypertrophic cardiomyopathy in a patient of Klinefelter syndrome--a rare association. J Coll Physicians Surg Pak. 2009;19:520-2 pubmed publisher
    ..suggested primary hypogonadism and cytogenetics report suggested a karyotype, 47, XXY, in all counted cells, consistent with the diagnosis of Klinefelter syndrome. He is being managed with beta-blocker and androgen replacement therapy.
  42. Melillo N, Corrado A, Quarta L, D Onofrio F, Cantatore F. Psoriatic arthritis and Klinefelter syndrome: case report. Clin Rheumatol. 2007;26:443-4 pubmed
    ..and other autoimmune disorders with chromosomal abnormalities have been reported, the occurrence of PsA and Klinefelter syndrome has not been reported previously. A case of Klinefelter syndrome and PsA was reported...
  43. Bojesen A, Birkebæk N, Kristensen K, Heickendorff L, Mosekilde L, Christiansen J, et al. Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone. Osteoporos Int. 2011;22:1441-50 pubmed publisher
    b>Klinefelter syndrome (KS) patients have lower bone mineral density (BMD) at the spine, hip and forearm compared to healthy subjects, but frank osteoporosis is not common...
  44. Bowden S, Germak J. Klinefelter syndrome presenting with precocious puberty due to a human chorionic gonadotropin (hCG)-producing mediastinal germinoma. J Pediatr Endocrinol Metab. 2006;19:1371 pubmed
  45. Bishop D, Scerif G. Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesis. Acta Paediatr. 2011;100:903-7 pubmed publisher
    To compare the phenotype in Klinefelter syndrome (KS) with (i) specific language impairment (SLI) and (ii) XXX and XYY trisomies...
  46. Ross J, Zeger M, Kushner H, Zinn A, Roeltgen D. An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Dev Disabil Res Rev. 2009;15:309-17 pubmed publisher
    ..to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly ..
  47. 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. Dev Disabil Res Rev. 2009;15:284-94 pubmed publisher
    b>Klinefelter syndrome (KS) or 47,XXY occurs in approximately 1 in 650 males. Individuals with KS often present with physical characteristics including tall stature, hypogonadism, and fertility problems...
  48. Høst C, Bojesen A, Frystyk J, Flyvbjerg A, Christiansen J, Gravholt C. Effect of sex hormone treatment on circulating adiponectin and subforms in Turner and Klinefelter syndrome. Eur J Clin Invest. 2010;40:211-9 pubmed publisher
    ..We investigated the impact of sex hormone replacement therapy (HRT) on circulating adiponectin and its subforms, fasting lipids and measures of insulin sensitivity in Turner syndrome (TS) and Klinefelter syndrome (KS) respectively.
  49. Bojesen A, Gravholt C. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. 2007;4:192-204 pubmed
    b>Klinefelter syndrome is the most common sex-chromosome disorder; it affects approximately one in every 660 men...
  50. Rogol A, Tartaglia N. Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY). Pediatr Endocrinol Rev. 2010;8 Suppl 1:145-50 pubmed
    ..as the dose is escalated more effects may be noted in the behavioral sphere, especially in adolescents with Klinefelter syndrome compared to those who receive replacement therapy with testosterone for other purposes, for example, ..
  51. Paduch D, Bolyakov A, Cohen P, Travis A. Reproduction in men with Klinefelter syndrome: the past, the present, and the future. Semin Reprod Med. 2009;27:137-48 pubmed publisher
    b>Klinefelter syndrome (KS) is the most common chromosomal aberration in men...
  52. Pasquali D, Arcopinto M, Renzullo A, Rotondi M, Accardo G, Salzano A, et al. Cardiovascular abnormalities in Klinefelter syndrome. Int J Cardiol. 2013;168:754-9 pubmed publisher
    ..studies have demonstrated an increased mortality from cardiovascular causes in patients with Klinefelter Syndrome (KS). Little information is available about the nature of the underlying cardiovascular abnormalities...
  53. Aksglaede L, Molgaard C, Skakkebaek N, Juul A. Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndrome. Arch Dis Child. 2008;93:30-4 pubmed
    To evaluate body composition and bone mineral content (BMC) in children and adolescents with Klinefelter syndrome (KS).