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Vitiazeva I.I.

FGBU Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossiĭskoĭ Federatsii

Mun T.V.

Endocrinology Research Centre, Moscow, Russia

Liutyi R.U.

Endocrinology Research Centre Ministry of Healthcareof the Russian Federation Moscow, Russia, 117036

Razina O.U.

Endocrinology Research Centre Ministry of Healthcareof the Russian Federation Moscow, Russia, 117036

Dedov I.I.

Endocrinology Research Centre

Etiologic and pathogenetic aspects of non-mosaic form of Klinefelter syndrome

Authors:

Vitiazeva I.I., Mun T.V., Liutyi R.U., Razina O.U., Dedov I.I.

More about the authors

Journal: Russian Journal of Human Reproduction. 2017;23(4): 24‑31

Read: 3652 times


To cite this article:

Vitiazeva II, Mun TV, Liutyi RU, Razina OU, Dedov II. Etiologic and pathogenetic aspects of non-mosaic form of Klinefelter syndrome. Russian Journal of Human Reproduction. 2017;23(4):24‑31. (In Russ.)
https://doi.org/10.17116/repro201723424-31

References:

  1. Forti G, Corona G, Vignozzi L, Krausz C, Maggi M. Klinefelter’s syndrome: a clinical and therapeutical update. Sexual Development. 2010;4(4-5):249-258. https://doi.org/10.1159/000316604
  2. Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating Hormone. J Clin Endocrinol. 1942;2(11):615-627. https://doi.org/10.1210/jcem-2-11-615
  3. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nature Reviews Urology. 2007;4:192-204. https://doi.org/10.1038/ncpuro0775
  4. Bradbury JT, Bunge RG, Boccabella RA. Chromatin test in Klinefelter’s syndrome. J Clin Endocrinol Metab. 1956;16(5):689. https://doi.org/10.1210/jcem-16-5-689
  5. Roland CG, Rogers AG, D’Agincourt RG. Multiple spider angiomata in a patient with Klinefelter’s syndrome. Can Med Assoc J. 1959 Feb 15;80(4):276-278.
  6. Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183:302-303. https://doi.org/10.1038/183302a0
  7. Fraser JH, Boyd E, Lennox B, Dennison WM. A case of XXXXY Klinefelter’s syndrome. Lancet. 1961 Nov 11;2(7211):1064-1067. https://doi.org/10.1016/S0140-6736(61)92541-7
  8. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter’s syndrome. Lancet. 2004;364:273-283. https://doi.org/10.1016/S0140-6736(04)16678-6
  9. Anagnostopoulos AK, Kolialexi A, Mavrou A,Vougas K, Papantoniou N, Antsaklis A, Kanavakis E, Fountoulakis M, Tsangaris GT. Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetuses. J Proteomics. 2010 Mar 10;73(5):943-950. https://doi.org/10.1016/j.jprot.2009.12.009
  10. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88(2):622-626. https://doi.org/10.1210/jc.2002-021-021491
  11. Aksglaede L, Juul A. Testicular function and fertility in men with Klinefelter syndrome: A review. Eur J Endocrinol. 2013;168 (4):R67-R76. https://doi.org/10.1530/EJE-12-0934
  12. Plotton I, Brosse A, Cuzin B, Lejeune H. Klinefelter syndrome and TESE/ICSI. Ann Endocrinol (Paris). 2014;75:118-125. https://doi.org/10.1016/j.ando.2014.04.004
  13. Madureira C, Cunha M, Sousa M, et al. Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children. Andrology. 2014;2:623-631. https://doi.org/10.1111/j.2047-2927.2014.00231.x
  14. Dabaja AA, Schlegel PN. Microdissection testicular sperm extraction: an update Asian J Androl. 2013 Jan;15(1):35-39. https://doi.org/10.1038/aja.2012.141
  15. Vityazeva AA, Bogolyubov SV, Bragina EE, Arifulin E.A. Microdissection testicular sperm extraction in patients with non-mosaic Klinefelter syndrome in programme in vitro fertilization: literature review and cases report. Andrology and Genital Surgery. 2014;15(3):16-25. (In Russ.). https://doi.org/10.17650/2070-9781-2014-3-16-25
  16. Staessen C, Coonen E, Van Assche E, Tournaye H, Joris H, Devroey P, Van Steirteghem AC, Liebaers I. Preimplantation diagnosis for X- and Y- normality in embryos from three Klinefelter patients. Hum Reprod. 1996;11(8):1650-1653. https://doi.org/10.1093/oxfordjournals.humrep.a019463
  17. Bourne H, Stern K, Clarke G, Pertile M, Speirs A, Gordon HW. Bake delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter’s syndrome. Hum Reprod. 1997;12(11):2447-2450. https://doi.org/10.1093/humrep/12.11.2447
  18. Giltay JC, Maiburg MC. Klinefelter syndrome: clinical and molecular aspects. Expert Rev Mol Diagn. 2010;10:765-776. https://doi.org/10.1586/erm.10.63
  19. Maiburg M, Repping S, Giltay J. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 2012 Aug;98(2):253-260. https://doi.org/10.1016/j.fertnstert.2012.06.019
  20. Haliloglu AH, Tangal S, Gulpinar O, Onal K, Pabuccu R. Should repeated TESE be performed following a failed TESE in men with Klinefelter Syndrome? Andrology. 2014 Jan;2(1):42-44. https://doi.org/10.1111/j.2047-2927.2013.00157.x
  21. Barr ML, Bertram EG. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature. 1949;163(4148):676-677. https://doi.org/10.1038/163676a0
  22. Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X-chromosome. Nature. 1991;49(6304):38-44. https://doi.org/10.1038/349038a0
  23. Plath K, Mlynarczyk-Evans S, Nusinow DA, Panning B. Xist RNA and the mechanism of X-chromosome inactivation. Annu Rev Genet. 2002;36:233-278. https://doi.org/10.1146/annurev.genet.36.042902.092433
  24. Tuttelmann F, Gromoll J Novel genetic aspects of Klinefelter’s syndrome. Mol Hum Reprod. 2010;16(6):386-395. https://doi.org/10.1093/molehr/gaq019
  25. Yang F, Babak T, Shendure J, Disteche CM Global survey of escape from X-inactivation by RNA-sequencing in mouse. Genome Res. 2010;20(5):614-622. https://doi.org/10.1101/gr.103200.109
  26. Berletch JB, Yang F, Disteche CM Escape from X inactivation in mice and humans. Genome Biol. 2010;11(6):213. https://doi.org/10.1186/gb-2010-11-6-213
  27. Carrel L, Willard HF Heterogeneous gene expression from the inactive X-chromosome: an X-linked gene that escapes X-inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci USA. 1999;96(13):7364-7369. https://doi.org/10.1073/pnas.96.13.7364
  28. Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005;434(7031):400-404. https://doi.org/10.1038/nature03479
  29. Carrel L, Cottle AA, Goglin KC, Willard HF. A first-generation X-inactivation profile of the human X-chromosome. Proc Natl Acad Sci USA. 1999;96(25):14440-14444. https://doi.org/10.10973/pnas.96.25.14440
  30. Rocca VS, Pecile V, Cleva L, Speltra E, Selice R, Di Mambro A, Foresta C, Ferlin A. The Klinefelter syndrome is associated with high recurrence of copy number variations on the X-chromosome with a potential role in the clinical phenotype. Andrology. 2016;4:328-334. https://doi.org/10.1111/andr.12146
  31. Zitzmann M, Bongers R, Werler S, Bogdanova N, Wistuba J, Kliesch S, Gromoll J, Tu¨ttelmann F. Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome. J Clin Endocrinol Metab. 2015;100:E518-E523. https://doi.org/10.1210/jc.2014-2780
  32. Ogata T, Kosho T, Wakui K, Fukushima Y, Yoshimoto M, Miharu N. Short stature homeobox-containing gene duplication on the the (X)-chromosome in a female with 45, X/46, X, der (X), gonadal dysgenesis, and tall stature. J Clin Endocrinol Metabol. 2000;85:2927-2930. https://doi.org/10.1210/jcem.85.8.6745
  33. Adamson KA, Cross I, Batch JA, Rappold GA, Glass IA, Ball SG. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X-chromosome. Clin Endocrinol. (Oxf). 2002;56:671-675. https://doi.org/10.1046/j.1365-2265.2002.01504.x
  34. Tian Y, Stamova B, Jickling GC, Xu H, Liu D, Ander BP, Bushnell C, Zhan X, Turner RJ, Davis RR, Verro P, Pevec WC, Hedayati N, Dawson DL, Khoury J, Jauch EC, Pancioli A, Broderick JP, Sharp FR. Y-chromosome gene expression in the blood of male patients with ischemic stroke compared with male controls. Gend Med. 2012;9:68-75. https://doi.org/10.1016/j.genm.2012.01.005
  35. Buschmann IR, Busch HJ, Mies G, Hossmann KA. Therapeutic induction of arteriogenesis in hypoperfused rat brain via granulocytemacrophage colony-stimulating factor. Circulation. 2003;108:610-615. https://doi.org/10.1161/01.cir.0000074209.17561.99
  36. Clemencon B, Babot M, Trezeguet V. The mitochondrial ADP/ATP carrier (SLC25 family): pathological implications of its dysfunction. Mol Aspects Med. 2013;34(2-3): 485-493. https://doi.org/10.1016/j.mam.2012.05.006
  37. Priddle TH, Crow TJ. The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern homosapiens. Ann NY Acad Sci. 2013;1288(1): 36-47. https://doi.org/10.1111/nyas.12042
  38. Huang J, Zhang L, Deng H, Chang L, Liu Q, Liu P. Global transcriptome analysis of peripheral blood identifies the most significantly down-regulated genes associated with metabolism regulation in Klinefelter syndrome. Molecular reproduction and development. 2015;82(1):17-25. https://doi.org/10.1002/mrd.22438
  39. D’Aurora M, Ferlin A, Di Nicola M, et al. Deregulation of sertoli and leydig cells function in patients with klinefelter syndrome as evidenced by testis transcriptome analysis. BMC genomics. 2015;16(1):156. https://doi.org/10.1186/s12864-015-1356-0
  40. Liu N, Qiao Y, Cai C, et al. A sperm component, HSD-3.8 (SPAG1), interacts with G-protein beta1 subunit and activates extracellular signal-regulated kinases (ERK). Frontiers in bioscience. 2006;11:1679-1689. https://doi.org/10.2741/1913
  41. Viana J, Pidsley R, Troakes C, et al. Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain. Epigenetics. 2014;9(4):587-599. https://doi.org/10.4161/epi.27806
  42. Wang PJ, McCarrey JR, Yang F, Page DC. An abundance of X-linked genes expressed in spermatogonia. Nat Genet. 2001; 27(4):422-426. https://doi.org/10.1038/86927
  43. Spatz A, Borg C, Feunteun J. X-chromosome genetics and human cancer. Nat Rev Cancer. 2004;4(8):617-629. https://doi.org/10.1038/nrc1413
  44. Fan G, Tran J. X-chromosome inactivation in human and mouse pluripotent stem cells. Hum Genet. 2011;130(2):217-222. https://doi.org/10.1007/s00439-011-1038-1
  45. Berletch JB, Yang F, Xu J, Carrel L, Disteche CM. Genes that escape from X-inactivation. Hum Genet. 2011;130(2):237-245. https://doi.org/10.1007/s00439-011-1011-z
  46. Pessia E, Makino T, Bailly-Bechet M, McLysaght A, Mammalian MGA. X-chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X-chromosome. Proc Natl Acad Sci USA. 2012;109(14):5346-5351. https://doi.org/10.1073/pnas.1116763109
  47. Yu YH, Siao FP, Hsu LC, Yen PH. TEX11 modulates germ cell proliferation by competing with estrogen receptor beta for the binding to HPIP. Mol Endocrinol. 2012;26(4):630-642. https://doi.org/10.1210/me.2011-1263
  48. Eicher EM, Hale DW, Hunt PA, Lee BK, Tucker PK, King TR, et al. The mouse Y-chromosome involves a complex rearrangement, including interstitial positioning of the pseudoautosomal region. Cytogenet Gen Res. 1991;57(4):221-230. https://doi.org/10.1159/000133152
  49. Hunt PA, Worthman C, Levinson H, Stallings J, LeMaire R, Mroz K, et al. Germ cell loss in the XXY male mouse: altered X-chromosome dosage affects prenatal development. Mol Reprod Dev. 1998;49(2):101-111. https://doi.org/10.1002/(sici)1098-2795(199802)49:2<101::aid-mrd1>3.0.co;2-t
  50. Lue Y, Roa PN, SinhaHikim AP, Im M, Salameh WA, Yen PH, et al. XXY male mice: an experimental model for Klinefelter syndrome. Endocrinology. 2001;142:1461-1470. https://doi.org/10.1210/en.142.4.1461
  51. Murken JD, Stengel-Rutkowski S, Walther JU, Westenfelder SR, Remberger KH, Zimmer F. Klinefelter’s syndrome in a fetus. Lancet. 1974;304(7873):171. https://doi.org/10.1016/s0140-6736(74)91608-0
  52. Autio-Harmainen H, Rapola J, Aula P. Fetal gonadal histology in XXXXY, XYY and XXX-syndromes. Clin Genet. 1980;18:1-5. https://doi.org/10.1111/j.1399-0004.1980.tb01356.x
  53. Coerdt W, Rehder H, Gausmann I, Johannisson R, Gropp A. Quantitative histology of human fetal testes in chromosomal disease. Pediatr Pathol. 1985;3:245-259. https://doi.org/10.3109/15513818509078785
  54. Gustavson KH, Kjessler B, Thoren S. Prenatal diagnosis of an XXY foetal karyotype in a woman with a previous 21-trisomic child. Clin Genet. 2008;13:477-480. https://doi.org/10.1111/j.1399-0004.1978.tb01201.x
  55. Flannery DB, Brown JA, Redwine FO, Winter P, Nance WE. Antenatally detected Klinefelter’s syndrome in twins. Acta Genet Med Gemellol. 1984;33:51-56. https://doi.org/10.1017/s0001566000007492
  56. Boisen KA, Kaleva M, Main KM, Virtanen HE, Haavisto AM, Schmidt IM, et al. Difference in prevalence of congenital cryptorchidism in infants between two Nordic countries. Lancet. 2004;363:1264-1269. https://doi.org/10.1016/s0140-6736(04)15998-9
  57. Ferlin A, Zuccarello D, Zuccarello B, Chirico MR, Zanon GF, Foresta C. Genetic alterations associated with cryptorchidism. JAMA. 2008;300:2271-2276. 36. https://doi.org/10.1001/jama.2008.668
  58. Gottlieb S, Rey RA, Malozowski S. Klinefelter syndrome and cryptorchidism. JAMA. 2009;301:1436-1437. https://doi.org/10.1001/jama.2009.443
  59. Rey RA, Gottlieb S, Pasqualini T, Bastida MG, Grinspon RP, Campo SM, Bergadá I. Are Klinefelter boys hypogonadal? Acta Paediatr. 2011 Jun;100(6):830-838. https://doi.org/10.1111/j.1651-2227.2010.02137.x
  60. Künzig HJ, Meyer U, Schmitz-Roeckerath B, Broer KH. Influence of fetal sex on the concentration of amniotic fluid testosterone: antenatal sex determination? Arch Gynakol. 1977;223:75-84. https://doi.org/10.1007/bf00667106
  61. Peters M, Mackenzie K, Bryden P. Finger length and distal finger extent patterns in humans. Am J Phys Anthropol. 2002;117:209-217. https://doi.org/10.1002/ajpa.10029
  62. Chang S, Skakkebæk A, Trolle C, Bojesen A, Hertz JM, Cohen A, Hougaard DM, Wallentin M, Pedersen AD, Østergaard JR, Gravholt CH. Anthropometry in Klinefelter syndrome—multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism. J Clin Endocrinol Metab. 2015 Mar;100(3):E508-E517. https://doi.org/10.1210/jc.2014-2834
  63. Main KM, Toppari J, Skakkebek NE. Gonadal development and reproductive hormones in infant boys. Eur J Endocrinology. 2006; 155:51-57. https://doi.org/10.1530/eje.1.02237
  64. Grinspon RP, Rey RA. Anti-mullerian hormone and sertoli cell function in paediatric male hypogonadism. Horm Research in Pediatrics. 2010;73(2):8192. https://doi.org/10.1159/000277140
  65. Bergada´ I, Milani C, Bedecarra´s P, Andreone L, Ropelato MG, Gottlieb S, Bergada´ C, Campo S, Rey RA. Time course of the serum gonadotropin surge, inhibins, and anti-mullerian hormone in normal newborn males during the first month of life. J Clin Endocrinol Metab. 2006;91:4092-4098. https://doi.org/10.1210/jc.2006-1079
  66. Ji C, Huang XW, Yang RW, Wang XU, Yan Z. Gonadotropins and sex hormones in healthy chinese infants. Indian Pediatrics. 2008;45:489-492.
  67. Andersson АМ, Toppari J, Haavisto AM, Petersen JH, Simell T, Simell O, Niels E. Longitudinal reproductive hormone profiles in infants: peak of inhibin B levels in infant boys exceeds levels in adult men. J of Clinical Endocrinology et Metabolism. 1998;83(2):675-681. https://doi.org/10.1210/jcem.83.2.4603
  68. Lahlou N, Fennoy I, Carel JK, Roger M. Inhibin B and anti-müllerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. J of Clinical Endocrinology & Metabolism. 2004;89(4):1864-1868. https://doi.org/10.1210/jc.2003-031624
  69. Cabrol S, Ross JL, 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. Journal of Clinical Endocrinology and Metabolism. 2011;96:E746-E753. https://doi.org/10.1210/jc.2010-2103
  70. Christiansen P, Andersson AM, Skakkebaek NE. Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. J Clin Endocrinol Metab. 2003;88:888-891. https://doi.org/10.1210/jc.2002-021379
  71. Wikstrom AM, Dunkel L, Wickman S, Norjavaara E, Ankarberg- Lindgren C, Raivio T. Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys. Pediatr Res. 2006;59:854-859. https://doi.org/10.1203/01.pdr.0000219386.31398.c3
  72. Wikstrom AM, Dunkel L. Testicular function in Klinefelter syndrome. Horm Res. 2008;69:317-326. https://doi.org/10.1159/000117387
  73. Forti G, Corona G, Vignozzi L, Krausz C, Maggi M. Klinefelter’s syndrome: a clinical and therapeutical update. Sex Dev. 2010 Sep;4(4-5):249-258. https://doi.org/10.1159/000316604
  74. Foresta C, Galeazzi C, Bettella A, Marin P, Rossato M, Garolla A, et al. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter’s syndrome. J Clin Endocrinol Metab. 1999;84:3807-3810. https://doi.org/10.1210/jecm.8410.6029
  75. Yamamoto Y, Sofikitis N, Mio Y, Loutradis D, Kaponis A, Miyagawa I. Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter’s syndrome. Hum Reprod. 2002;17:886-896. https://doi.org/10.1093/humrep/17.4.886
  76. Ferlin A, Garolla A, Foresta C. Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities. Cytogenet Genom Res. 2005;111:310-316. https://doi.org/10.1159/000086905
  77. Skakkebaek NE, Philip J, Hammen R. Meiotic chromosomes in Klinefelter’s syndrome. Nature. 1969;221:1075-1076. https://doi.org/10.1038/2211075a0
  78. Komsky-Elbaz A, Raziel A, Ben-Ami I, Bern O, Maslansky B, Gidoni YS, Ron-ER, Strassburger D. Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system. J Assist Reprod Genet. 2015 Jul;32(7):1113-1121. https://doi.org/10.1007/s10815-015-0508-0
  79. Blanco J, Egozcue J, Vidal F. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in situ hybridization. Hum Reprod. 2001;16:887-892. https://doi.org/10.1093/humrep/16.5.887
  80. Bergere M, Wainer R, Nataf V, Bailly M, Gombault M, Ville Y, et al. Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results. Hum Reprod. 2002;17:32-37. https://doi.org/10.1093/humrep/17.1.32
  81. Sciurano RB, Luna Hisano CV, Rahn MI, Brugo Olmedo S, Rey Valzacchi G, Coco R, et al. Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod. 2009;24:2353-2360. https://doi.org/10.1093/humrep/dep180 Поступила 13.06.2017

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