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Federación Mexicana de Ginecología y Obstetricia, A.C.

2009, Número 03

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Ginecol Obstet Mex 2009; 77 (03)


Prevalencia de alteraciones cromosómicas en pacientes infértiles estudiadas en una clínica de reproducción asistida

Romero TS, Juárez EB, Galindo GCG, Mendoza RM, Sánchez URA

Idioma: Español
Referencias bibliográficas: 70
Paginas: 128-135
Archivo PDF: 50.28 Kb.


RESUMEN

Antecedentes: las alteraciones cromosómicas son una de las causas frecuentes de infertilidad. No existe unanimidad para que el estudio citogenético se incluya en el procedimiento inicial de la pareja infértil.
Objetivo: conocer la prevalencia de las alteraciones cromosómicas en parejas infértiles en nuestra población y respaldar la indicación del estudio citogenético en el procedimiento diagnóstico inicial de la pareja infértil.
Material y método: estudio retrospectivo efectuado entre enero de 2004 y abril de 2007 a 787 pacientes infértiles que se dividieron en cinco grupos y a quienes se realizó un estudio citogenético.
Resultados: la prevalencia de alteraciones cromosómicas fue de 12.5% (98/787); de factor masculino severo 14.8% (34/229); insuficiencia ovárica prematura 14.3% (2/14); pérdida repetida de la gestación 12.3% (20/162); infertilidad idiopática 8% (9/112) y relacionadas con otras afecciones 12.2% (33/270). Las principales alteraciones correspondieron a trisomías, translocaciones y marcadores cromosómicos, sobre todo del cromosoma 9.
Conclusiones: los resultados de este estudio son consistentes con los reportados en la bibliografía, donde se establece mayor prevalencia de alteraciones cromosómicas en la pareja infértil comparada con la población general, lo que pone de manifiesto la importancia del estudio citogenético en el protocolo inicial diagnóstico de la pareja infértil.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Clementini E, Palka C, Iezzi I, Stuppia L, et al. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod 2005; 20(2): 437-42.

  2. Mau U, Bâckert I, Kaiser P, Kiesel L. Chromosomal findings in 150 couples referred for Genetic Counseling Prior to Intracytoplasmic Sperm Injection. Hum Reprod 1997;12: 930-37.

  3. Riccaboni A, Lalatta F, Caliari H, Bonett S, et al. Genetic screening in 2710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic test. Fert Steril 2008;89(4):800-8.

  4. Makino T, Tabuchi T, Nakada K, Iwasaki K, et al. Chromosomal analysis in japanese copules with repeated spontaneous abortions. Int J Fertil 1990;35:266-70.

  5. McFadden DE, Friedman JM. Chromosome abnormalities in human beings. Mutat Res 1997;396:129-40.

  6. Wilkins-Haug LE, Rein MS, Hornstein MD. Oligospermic men: the role of karyotype analysis prior to intracytoplasmic sperm injection. Fertil Steril 1997;67:612-14.

  7. Lawler AM, Gearhart JD. Genetic counseling for patients who will be undergoing treatment with assisted reproductive technology. Fertil Steril 1998;70:412-13.

  8. Pao-Lin Kuo. Maternal trisomy 21 and recurrent apontaneous abortion. Fertil Steril 2002; 78:432-33.

  9. Gekas J, Meens R, Gondry J, Mathieu M, Thepot F. Value of karyotyping women patients of couples referred for sterility. Gynecol Obstet Fertil 2003;31:66-69.

  10. Hargreave TB, Ghosh C, Cooke H. Genetics of male infertility. Mol Cell Endocrinol 1998; 145:143-51.

  11. Bounduelle M, Van Assche E, Joris H, et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod 2002;17:2600-14.

  12. Foresta C, Ferlin A, Gianaroli L, Dallapiccola B. Guidelines for the appropriate use of genetic test in infertile couples. Eur J Hum Genet 2002;10:303-12.

  13. Hens L, Bonduelle M, Liebaers I. Chromosome aberrations in 500 couples referred for in vitro fertilization or related fertility treatment. Hum Reprod 1988;3:451-57.

  14. Peschka B, Leygraff J, Van der Ven H, Schwanitz G. Type and Frecuency of Chromosome Aberrations in 781 Couples Undergoing Intracytoplasmic Sperm Injection. Hum Reprod 1999;14:2257-63.

  15. Baez M, Mayen D, Zavaleta M, García J. Alteraciones de los sexocromosomas y su relación con los trastornos de reproducción. Ginecol Obstet Mex 1998;66:367-70.

  16. Madon P, Athalye A, Parikh F. Polimorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Onl 2005;11(6):726-32.

  17. Krausz C, Giachini C. Genetic risk factors in male infertility. Arch Androl J Reprod Syst 2007;53:125-33.

  18. Chandley A, Cooke H. Human male fertility-y linked genes and spermatogenesis. Hum Mol Genet 1994;3:1449-52.

  19. Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, et al. Primary male infertility in Kwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. Androloga 2007; 39:87-92.

  20. Cortés-Gutierrez EI, Cerda-Flores RM, Dávila-Rodríguez MI, Hernández-Herrera R, Vargas-Villarreal J, Leal-Garza CH. Crhomosomal abnormalities and polymorphisms in Mexican men. Archives of Andrology 2004;50:261-65.

  21. Amory J, Anawalt B, Paulsen C, Brenner W. Klinefelter’s Syndrome. Lancet 2000; 356:333-35.

  22. Behre HM, Nieschlag E, Horst J. Chromosome abnormalities in 447 couples undergoing intracytoplasmatic sperm injectionprevalence, types, sex distribution and reproductive relevance. Hum Reprod 1998;13:576-82.

  23. Debiec-Rychter M, Jacubowski L, Truszcack B, Morusgala T, Kalusewki B. Two-familial 9:17 translocations with variable effect on male carriers fertility. Fertil Steril 1992; 57(4):933-35.

  24. Rooman R, Van Driessche K, Du Caju M. Growth and ovarian function in girls with 48, XXXX karyotype patient report and review of the literature. J Pediatr Endocrinol Metabol 2002;15(7):1051-5.

  25. Rothenmund H, Chudley A, Dawson A. Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An Update. Am J Med Gent 1997;72: 339-42.

  26. Hengstschlâger M, Bettelheim D, Drahonsky R, Deutinger JB. Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16. Prenat Diagn 2001;21:477-80.

  27. Guttenbach M, Engel W, Schmid M. Analysis of structural and numerical chromosome abnormalities in sperm of normnal men and carriers of constitutional chromosome aberrations. A Review. Hum Genet 1997;100:1-21.

  28. Pandiyan N, Jequier M. Mitotic chromosomal anomalies among 1210 infertile men. Hum Reprod 1996;11(12):2604-8.

  29. Di Gennaro G, Mascia A, Grammaldo L. Focal cortical displasia and pericentric inversión of cromosome 9: a Case Report. J Neurol Scien 2004;21:143-46.

  30. Parikh F, Madon P, Athalaye A, Naik N, et al. Analysis of Male Factor Infertility. Int J of Hum Genet 2004;Suppl.1:13.

  31. Bhasin M. Human Populations Cytogenetics: a Review. Int J Hum Genet 2005;5:83-152.

  32. Goumy C, Mihaescu M, Tchirkov A, et al. An unusual familial chromosome 9 “variant” with variable phenotype: characterization by CGH analysis. Morphologie 2005;89:71-5.

  33. Cheong KF, Knight LA, Tan M, Ng IS. Variants of chromosome 9 in phenotypically normal individuals. Ann Acad Med Singapore 1997;26:312-4.

  34. Demirhan O, Pazarbasi A, Suleymanova-Karahan D, Tanriverdi N, Kilinic Y. Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling. Saudi Med J 2008;29:946-51.

  35. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus Denmark. Hum Genet 1991; 87:81-83.

  36. Clementini E, Palka C, Iezzi I, Stuppia L, et al. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod 2005; 20(2): 437-42.

  37. Mau U, Bâckert I, Kaiser P, Kiesel L. Chromosomal findings in 150 couples referred for Genetic Counseling Prior to Intracytoplasmic Sperm Injection. Hum Reprod 1997;12: 930-37.

  38. Riccaboni A, Lalatta F, Caliari H, Bonett S, et al. Genetic screening in 2710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic test. Fert Steril 2008;89(4):800-8.

  39. Makino T, Tabuchi T, Nakada K, Iwasaki K, et al. Chromosomal analysis in japanese copules with repeated spontaneous abortions. Int J Fertil 1990;35:266-70.

  40. McFadden DE, Friedman JM. Chromosome abnormalities in human beings. Mutat Res 1997;396:129-40.

  41. Wilkins-Haug LE, Rein MS, Hornstein MD. Oligospermic men: the role of karyotype analysis prior to intracytoplasmic sperm injection. Fertil Steril 1997;67:612-14.

  42. Lawler AM, Gearhart JD. Genetic counseling for patients who will be undergoing treatment with assisted reproductive technology. Fertil Steril 1998;70:412-13.

  43. Pao-Lin Kuo. Maternal trisomy 21 and recurrent apontaneous abortion. Fertil Steril 2002; 78:432-33.

  44. Gekas J, Meens R, Gondry J, Mathieu M, Thepot F. Value of karyotyping women patients of couples referred for sterility. Gynecol Obstet Fertil 2003;31:66-69.

  45. Hargreave TB, Ghosh C, Cooke H. Genetics of male infertility. Mol Cell Endocrinol 1998; 145:143-51.

  46. Bounduelle M, Van Assche E, Joris H, et al. Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod 2002;17:2600-14.

  47. Foresta C, Ferlin A, Gianaroli L, Dallapiccola B. Guidelines for the appropriate use of genetic test in infertile couples. Eur J Hum Genet 2002;10:303-12.

  48. Hens L, Bonduelle M, Liebaers I. Chromosome aberrations in 500 couples referred for in vitro fertilization or related fertility treatment. Hum Reprod 1988;3:451-57.

  49. Peschka B, Leygraff J, Van der Ven H, Schwanitz G. Type and Frecuency of Chromosome Aberrations in 781 Couples Undergoing Intracytoplasmic Sperm Injection. Hum Reprod 1999;14:2257-63.

  50. Baez M, Mayen D, Zavaleta M, García J. Alteraciones de los sexocromosomas y su relación con los trastornos de reproducción. Ginecol Obstet Mex 1998;66:367-70.

  51. Madon P, Athalye A, Parikh F. Polimorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Onl 2005;11(6):726-32.

  52. Krausz C, Giachini C. Genetic risk factors in male infertility. Arch Androl J Reprod Syst 2007;53:125-33.

  53. Chandley A, Cooke H. Human male fertility-y linked genes and spermatogenesis. Hum Mol Genet 1994;3:1449-52.

  54. Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, et al. Primary male infertility in Kwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. Androloga 2007; 39:87-92.

  55. Cortés-Gutierrez EI, Cerda-Flores RM, Dávila-Rodríguez MI, Hernández-Herrera R, Vargas-Villarreal J, Leal-Garza CH. Crhomosomal abnormalities and polymorphisms in Mexican men. Archives of Andrology 2004;50:261-65.

  56. Amory J, Anawalt B, Paulsen C, Brenner W. Klinefelter’s Syndrome. Lancet 2000; 356:333-35.

  57. Behre HM, Nieschlag E, Horst J. Chromosome abnormalities in 447 couples undergoing intracytoplasmatic sperm injectionprevalence, types, sex distribution and reproductive relevance. Hum Reprod 1998;13:576-82.

  58. Debiec-Rychter M, Jacubowski L, Truszcack B, Morusgala T, Kalusewki B. Two-familial 9:17 translocations with variable effect on male carriers fertility. Fertil Steril 1992; 57(4):933-35.

  59. Rooman R, Van Driessche K, Du Caju M. Growth and ovarian function in girls with 48, XXXX karyotype patient report and review of the literature. J Pediatr Endocrinol Metabol 2002;15(7):1051-5.

  60. Rothenmund H, Chudley A, Dawson A. Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An Update. Am J Med Gent 1997;72: 339-42.

  61. Hengstschlâger M, Bettelheim D, Drahonsky R, Deutinger JB. Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16. Prenat Diagn 2001;21:477-80.

  62. Guttenbach M, Engel W, Schmid M. Analysis of structural and numerical chromosome abnormalities in sperm of normnal men and carriers of constitutional chromosome aberrations. A Review. Hum Genet 1997;100:1-21.

  63. Pandiyan N, Jequier M. Mitotic chromosomal anomalies among 1210 infertile men. Hum Reprod 1996;11(12):2604-8.

  64. Di Gennaro G, Mascia A, Grammaldo L. Focal cortical displasia and pericentric inversión of cromosome 9: a Case Report. J Neurol Scien 2004;21:143-46.

  65. Parikh F, Madon P, Athalaye A, Naik N, et al. Analysis of Male Factor Infertility. Int J of Hum Genet 2004;Suppl.1:13.

  66. Bhasin M. Human Populations Cytogenetics: a Review. Int J Hum Genet 2005;5:83-152.

  67. Goumy C, Mihaescu M, Tchirkov A, et al. An unusual familial chromosome 9 “variant” with variable phenotype: characterization by CGH analysis. Morphologie 2005;89:71-5.

  68. Cheong KF, Knight LA, Tan M, Ng IS. Variants of chromosome 9 in phenotypically normal individuals. Ann Acad Med Singapore 1997;26:312-4.

  69. Demirhan O, Pazarbasi A, Suleymanova-Karahan D, Tanriverdi N, Kilinic Y. Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling. Saudi Med J 2008;29:946-51.

  70. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus Denmark. Hum Genet 1991; 87:81-83.




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