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Genetische Aspekte mikroassistierter Reproduktion

  • B. Wullich
  • K. Zang

Zusammenfassung

Auf dem Gebiet der in vitro-Fertilisierung und im direkten Umgang mit menschlichen Keimzellen waren in den vergangenen Jahren enorme Fortschritte zu verzeichnen. Nach der subzonalen Insemination (SUZI) stellt die intrazytoplasmatische Spermieninjektion (ICSI), also die Injektion eines einzelnen Spermiums in die Eizelle, das invasivste Verfahren dar. Diese Verfahren erhöhen deutlich die Chance, den Kinderwunsch von Paaren mit ungewollter Kinderlosigkeit, bei denen weniger invasive Verfahren der Reproduktionsmedizin, wie in vitro-Fertilisierung (IVF) und intratubarer Gameten- (GIFT) oder Zygoten- (ZIFT) Transfer u.a. versagen, zu erfüllen. Bisher werden, bei denen die Fertilitätsstörung andrologisch beding ist, bzw. bei denen trotz morphologisch und funktionell normaler Spermien die Befruchtung der Eizelle ausbleibt oder eine Störung auf der Ebene der Zona pellucida angenommen werden kann.

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Literatur

  1. Akin JW, Behzadin A, Iho SPT, McDonough PG (1991) Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia. Am J Obstet Gynecol 165:1891–1894PubMedGoogle Scholar
  2. Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I (1994) Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet 344:1473–1474PubMedCrossRefGoogle Scholar
  3. Bonduelle M, Legein J, Buysse A, van Assche E, Wisanto A, Devroey P, van Steirteghem A, Liebaers I (1996) Prospective follow-up study of 423 children born after intracytoplasmic sperm injection. Hum Reprod 11:1558–1564PubMedGoogle Scholar
  4. Boué A, Gallano P (1984) A collaborative study of the segregation of inherited chromosomal structural rearrangements in 1356 prenatal diagnosis. Prenat Diagn 4:45–67PubMedCrossRefGoogle Scholar
  5. Bourgoyne PS, Holland K, Stephens R (1991) Incidence of numerical chromosome anomalies in human pregnancy estimation from induced and spontaneous abortion data. Hum Reprod 6:555–565Google Scholar
  6. Bourrouillou G, Dastugue N, Colombies P (1985) Chromosome studies in 952 infertile males with a sperm count below 10 million/ml. Hum Genet 71:366–367PubMedCrossRefGoogle Scholar
  7. Chubb C (1993) Genetic control of spermatogenesis and steroidogenesis. In: Desjardins C, Ewing LL (eds) Cell and molecular biology of the testis. Oxford University Press, New York Oxford, S 90–107Google Scholar
  8. Cummins JM, Jequier AM (1994) Treating male infertility need more clinical andrology, not less. Hum Reprod 9:1214–1219PubMedGoogle Scholar
  9. De Braekeleer M, Dao TN (1991) Cytogenetic studies in male infertility: a review. Hum Reprod 6:245–250PubMedGoogle Scholar
  10. Dumur V, Gervais R, Rigot JM, Delomel-Vinner E, Lafitte JJ, Roussel P (1995) Congenital bilateral absence of vas deferens in absence of cystic fibrosis. Lancet 345:200–201PubMedCrossRefGoogle Scholar
  11. Ferguson-Smith MA, Yates JRW (1984) Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52,965 amniocenteses. Prenat Diagn 4:5–44PubMedCrossRefGoogle Scholar
  12. Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46:857–873PubMedGoogle Scholar
  13. Harvey J, Jacobs PA, Hassold T, Pettay D (1990) The parental origin of 47,XXY males. Birth Defects Orig Art Ser 26:289–296PubMedGoogle Scholar
  14. Hassold T, Arnovitz K, Jacobs PA (1990) The parental origin of the missing or additional chromosome in 45,X and 47,XXX females. Birth Defects Orig Art Ser 26:297–304PubMedGoogle Scholar
  15. Hinney B, Guttenbach M, Schmid M, Engel W, Michelmann HW (1997) Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter’s karyotype. Fertil Steril 68:718–720PubMedCrossRefGoogle Scholar
  16. Hiort O, Sinnecker GH, Holterhus PM, Nitsche EM, Kruse K (1996) The clinical and molecular spectrum of androgen insensitivity syndromes. Am J Med Genet 63:218–222PubMedCrossRefGoogle Scholar
  17. Jenderny J (1996) Chromosomenanalyse menschlicher Spermatozoen: Spontane und induzierte Chromosomenaberrationen. Med Genetik 8:302–309Google Scholar
  18. Liebaers I, Bonduelle M, Van Asche E, Devroey PO, Van Steirteghem (1995) Sex chromosome abnormalities after intracytoplasmatic sperm injection. Lancet 346:773CrossRefGoogle Scholar
  19. Mau UA, Bäckert IT, Kaiser P, Kiesel L (1997) Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum Reprod 12:930–937PubMedCrossRefGoogle Scholar
  20. Merrier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Andrezet MP, Ferec C (1995) Is congenitial bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 56:272–277PubMedGoogle Scholar
  21. Meschede D, Dworniczak B, Behre HM, Kliesch S, Claustres M, Nieschlag E, Horst J (1997) CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles. Am J Hum Genet 61:1200–1202PubMedCrossRefGoogle Scholar
  22. Mickle J, Milunsky A, Amos JA, Oates RD (1995) Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiolgy and mutational status of the cystic fibrosis gene. Hum Reprod 10:1728–1735PubMedGoogle Scholar
  23. Nagy. ZP, Liu J, Joris H, Verheyen G, Tournaye H, Camus M, Derde MC, Devroey P, Van Steirteghem AC (1995) The result of intracytoplasmic sperm injection is not related to any of the three basic sperm parameters. Hum Reprod 10:1123–1129PubMedGoogle Scholar
  24. Nishimura H (1970) Incidence of malformations in abortions. In: Fraser FC, McKusick VA (eds) Congenital malformations. Excerpta Medica. Amsterdam New York, pp 275–283Google Scholar
  25. Palermo G, Joris H, Devroey P, Van Steirteghem AC (1992) Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet 340:17–18PubMedCrossRefGoogle Scholar
  26. Palermo GD, Colombero LT, Schattman GL, Davis OK, Rosenwaks Z (1996) Evolution of pregnancies and initial follow-up of newborns delivered after intacytoplasmic sperm injection. JAMA 276:1893–1897PubMedCrossRefGoogle Scholar
  27. Plachot M, Grouchy J de, Junca AM, Turleau C, Conillon P, Cohen S, Salat-Baroux J (1987) From oocyte to embryo: a model, deduced from in vitro fertilization, for natural selection against chromosome abnormalities. Ann Genet 30:22–32PubMedGoogle Scholar
  28. Puschek EE, Behzadian MA, McDonough PG (1994) The first analysis of exon I (the transactivation domain) of the androgen receptor gene in infertile men with ofigospermia or azoospermia. Fertil Steril 62:1035–1038Google Scholar
  29. Rave-Harel N, Madgar I, Goshen R, Nissim-Rafinia M, Ziadni A, Rahat A, Chiba 0, Kalman YM, Brautbar C, Levinson D, Augarten A, Kerem E, Kerem B (1995) CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet 56:1359–1366PubMedGoogle Scholar
  30. Retief AE, Van ZyI JA, Menkveld R, Fox MF, Kotze GM, Brusnicky J (1984) Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet 66:162–164PubMedCrossRefGoogle Scholar
  31. Schlegel PN, Shin D, Goldstein M (1996) Urogenital anomalies in men with congenital absence the vas deferens. J Urol. 155:1644–1648PubMedCrossRefGoogle Scholar
  32. Society for Assisted Reproductive Technology, The American Society for Reproductive Medicine (1996) Assisted reproductive technology in the United States and Canada: 1994 results generated from the American Society for Reproductive Medicine/Society for Assisted Reproductive Technology Registry. Fertil Steril 66:697–705Google Scholar
  33. Staessen C, Coonen E, Van Assche E, Tournaye H, Joris H, Devroey P, Van Steirteghem AC, Liebaers I (1996) Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. Hum Reprod 11:1650–1653PubMedGoogle Scholar
  34. Stuhrmann M (1998) Das klinische Spektrum von Fertilitdtsst6rungen durch Mutationen im CFTRGen. Reproduktionsmedizin 14:54–65CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • B. Wullich
  • K. Zang

There are no affiliations available

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