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MeSH Review

Klinefelter Syndrome

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Disease relevance of Klinefelter Syndrome


Psychiatry related information on Klinefelter Syndrome


High impact information on Klinefelter Syndrome


Chemical compound and disease context of Klinefelter Syndrome


Biological context of Klinefelter Syndrome


Anatomical context of Klinefelter Syndrome


Gene context of Klinefelter Syndrome


Analytical, diagnostic and therapeutic context of Klinefelter Syndrome


  1. Cytogenetic and immunohistochemical evidence for the germ cell origin of a subset of acute leukemias associated with mediastinal germ cell tumors. Ladanyi, M., Samaniego, F., Reuter, V.E., Motzer, R.J., Jhanwar, S.C., Bosl, G.J., Chaganti, R.S. J. Natl. Cancer Inst. (1990) [Pubmed]
  2. Monozygotic twins with Klinefelter's syndrome discordant for systemic lupus erythematosus and symptomatic myasthenia gravis. Michalski, J.P., Snyder, S.M., McLeod, R.L., Talal, N. Arthritis Rheum. (1978) [Pubmed]
  3. Immunohistochemical and quantitative study of interstitial and intratubular Leydig cells in normal men, cryptorchidism, and Klinefelter's syndrome. Regadera, J., Codesal, J., Paniagua, R., Gonzalez-Peramato, P., Nistal, M. J. Pathol. (1991) [Pubmed]
  4. Influence of testosterone therapy on clinical and immunological features of autoimmune diseases associated with Klinefelter's syndrome. Bizzarro, A., Valentini, G., Di Martino, G., DaPonte, A., De Bellis, A., Iacono, G. J. Clin. Endocrinol. Metab. (1987) [Pubmed]
  5. Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. Suthers, G.K., Manson, J.I., Stern, L.M., Haan, E.A., Mulley, J.C. J. Med. Genet. (1989) [Pubmed]
  6. Neuropsychological profiles of adults with Klinefelter syndrome. Boone, K.B., Swerdloff, R.S., Miller, B.L., Geschwind, D.H., Razani, J., Lee, A., Gonzalo, I.G., Haddal, A., Rankin, K., Lu, P., Paul, L. Journal of the International Neuropsychological Society : JINS. (2001) [Pubmed]
  7. Lithium carbonate treatment of mania associated with Klinefelter's syndrome. Cameron, O.G., Landau, S.G. JAMA (1980) [Pubmed]
  8. Y-chromosomal genes in a phenotypic male with a 46XX karyotype. Dosik, H., Wachtei, S.S., Khan, F., Spergel, G., Koo, G.C. JAMA (1976) [Pubmed]
  9. Androgen receptors in Klinefelter's syndrome. Meurer, M., Kuhnle, U., Lindl, U., Keller, U. Lancet (1993) [Pubmed]
  10. Serum testosterone of boys with karyotype 47,XXY (Klinefelter's syndrome) at birth. Sørensen, K., Nielsen, J., Wohlert, M., Bennett, P., Johnsen, S.G. Lancet (1981) [Pubmed]
  11. Letter: Systemic lupus erythematosus and Klinefelter's syndrome. Burch, P.R., Rowell, N.R. Lancet (1976) [Pubmed]
  12. Systemic lupus erythematosus associated with klinefelter's syndrome. Stern, R., Fishman, J., Brusman, H., Kunkel, H.G. Arthritis Rheum. (1977) [Pubmed]
  13. Serum LH and FSH response in four-hour infusions of luteinizing hormone-releasing hormone in normal men, Sertoli cell only syndrome, and Klinefelter's syndrome. de Kretser, D.M., Burger, H.G., Dumpys, R. J. Clin. Endocrinol. Metab. (1975) [Pubmed]
  14. Sex hormone-binding globulin changes with androgen replacement. Plymate, S.R., Leonard, J.M., Paulsen, C.A., Fariss, B.L., Karpas, A.E. J. Clin. Endocrinol. Metab. (1983) [Pubmed]
  15. Decreased insulin binding to erythrocytes in subjects with Klinefelter's syndrome. Breyer, D., Cvitković, P., Skrabalo, Z., Pedersen, O., Rocić, B. J. Clin. Endocrinol. Metab. (1981) [Pubmed]
  16. Plasma melatonin concentration before and during testosterone replacement in Klinefelter's syndrome: relation to hepatic indolamine metabolism and sympathoadrenal activity. Caglayan, S., Ozata, M., Ozisik, G., Turan, M., Bolu, E., Oktenli, C., Arslan, N., Erbil, K., Gul, D., Ozdemir, I.C. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  17. Characterization of loss-of-inactive X in Klinefelter syndrome and female-derived cancer cells. Kawakami, T., Zhang, C., Taniguchi, T., Kim, C.J., Okada, Y., Sugihara, H., Hattori, T., Reeve, A.E., Ogawa, O., Okamoto, K. Oncogene (2004) [Pubmed]
  18. Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. Zinn, A.R., Ramos, P., Elder, F.F., Kowal, K., Samango-Sprouse, C., Ross, J.L. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  19. Bone mineral density and quantitative ultrasound parameters in patients with Klinefelter's syndrome after long-term testosterone substitution. van den Bergh, J.P., Hermus, A.R., Spruyt, A.I., Sweep, C.G., Corstens, F.H., Smals, A.G. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. (2001) [Pubmed]
  20. Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis. Suzuki, Y., Sasagawa, I., Tateno, T., Ashida, J., Nakada, T., Muroya, K., Ogata, T. Hum. Reprod. (2001) [Pubmed]
  21. The prevalence of chromosome diseases in the general population of Sichuan, China. Zhang, S.Z., Xie, T., Tang, Y.C., Zhang, S.L., Xu, Y. Clin. Genet. (1991) [Pubmed]
  22. Gonadotropin secretion in prepubertal and pubertal primary hypogonadism: response to LHRH. de Behar, B.R., Mendilaharzu, H., Rivarola, M.A., Bergadá, C. J. Clin. Endocrinol. Metab. (1975) [Pubmed]
  23. Establishment and characterization of a prostatic small-cell carcinoma cell line (PSK-1) derived from a patient with Klinefelter syndrome. Kim, C.J., Kushima, R., Okada, Y., Seto, A. Prostate (2000) [Pubmed]
  24. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. Kamischke, A., Baumgardt, A., Horst, J., Nieschlag, E. J. Androl. (2003) [Pubmed]
  25. Carnitine in seminal fluid as parameter for the epididymal function. Wetterauer, U., Heite, H.J. Andrologia (1978) [Pubmed]
  26. Amniotic fluid steroid levels. Fetuses with adrenal hyperplasia, 46,XXY fetuses, and normal fetuses. Carson, D.J., Okuno, A., Lee, P.A., Stetten, G., Didolkar, S.M., Migeon, C.J. Am. J. Dis. Child. (1982) [Pubmed]
  27. Inhibin B and anti-Müllerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. Lahlou, N., Fennoy, I., Carel, J.C., Roger, M. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  28. Increased IL-18 levels in seminal plasma of infertile men with genital tract infections. Matalliotakis, I.M., Cakmak, H., Fragouli, Y., Kourtis, A., Arici, A., Huszar, G. Am. J. Reprod. Immunol. (2006) [Pubmed]
  29. Studies using releasing factors in Klinefelter's syndrome: the responses of LH and FSH to luteinizing hormone-releasing hormone and of prolactin and TSH to thyrotropin-releasing hormone before and after testosterone. Cheikh, I.E., Hamilton, B.P., Hsu, T.H., Wiswell, J.G. Psychoneuroendocrinology (1981) [Pubmed]
  30. Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. Visootsak, J., Rosner, B., Dykens, E., Schwartz, C., Hahn, K., White, S.M., Szeftel, R., Graham, J.M. J. Pediatr. (2004) [Pubmed]
  31. Leg ulcers in Klinefelter's syndrome--further evidence for an involvement of plasminogen activator inhibitor-1. Zollner, T.M., Veraart, J.C., Wolter, M., Hesse, S., Villemur, B., Wenke, A., Werner, R.J., Boehncke, W.H., Jost, S.S., Scharrer, I., Kaufmann, R. Br. J. Dermatol. (1997) [Pubmed]
  32. Sexual aggressivity and androgens. Raboch, J., Cerná, H., Zemek, P. The British journal of psychiatry : the journal of mental science. (1987) [Pubmed]
  33. Serum testosterone levels in patients with nonmosaic Klinefelter syndrome after testicular sperm extraction for intracytoplasmic sperm injection. Okada, H., Shirakawa, T., Ishikawa, T., Goda, K., Fujisawa, M., Kamidono, S. Fertil. Steril. (2004) [Pubmed]
  34. The behavioural effects of testosterone undecanoate in adult men with Klinefelter's syndrome: a controlled study. Wu, F.C., Bancroft, J., Davidson, D.W., Nicol, K. Clin. Endocrinol. (Oxf) (1982) [Pubmed]
  35. Testosterone levels and gonadotrophins in Klinefelter's patients treated with injections of mesterolone cipionate. Kövary, P.M., Lenau, H., Niermann, H., Zierden, E., Wagner, H. Archives for dermatological research. Archiv für dermatologische Forschung. (1977) [Pubmed]
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