2014, Número 2
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Revista Cubana de Obstetricia y Ginecología 2014; 40 (2)
Enfoque de los principales factores causales en los trastornos reproductivos
Barrios MA, Méndez RLA
Idioma: Español
Referencias bibliográficas: 41
Paginas: 246-257
Archivo PDF: 99.64 Kb.
RESUMEN
Los trastornos de la reproducción pueden ser causados por esterilidad, que es la
incapacidad de concebir en la mujer y de fecundar en el hombre, o por infertilidad
que es la falta de descendencia por el aborto repetido y/o habitualmente la muerte
del recién nacido. En esta revisión se abordan las principales causas de los
trastornos de la fertilidad y se enfocan los factores genéticos que influyen, dentro
de estos los cromosómicos. Los estudios de las parejas con trastornos
reproductivos deben ser enfocados por un equipo médico multidisciplinario para
conocer origen, realizar pronóstico y brindar la opción reproductiva según
corresponda.
REFERENCIAS (EN ESTE ARTÍCULO)
Brugo OS, Chillik C, Kopelman S. Definición y causas de la infertilidad. Revista colombiana de Obstetricia y Ginecología. 2003;54(4):228-48.
Salamanca F. Genética Humana. En: Citogenética e Infertilidad. 1ra. ed. México: Editorial Médica Panamericana; 1990. p. 198-189.
Torres E, Escurra M, Rodríguez S. Prevalencia de cromosomapatías en parejas con trastornos reproductivos. Respyn. 2005;5.
Noceda G, Onofre A, Baéz R. Presentación de dos parejas con translocación recíproca balanceada y aborto recurrente que involucra al cromosoma 4. Respyn. 2005;5:10-8.
Nodar F, Brugo OS, Papier S. Birth of twin males with normal Karyotype after intracystolamasmic sperm injection with use of testicular spermatozoids from a non mosaic patient with Klinefelter´s. Fertil Steril. 1999;71:1149-52.
Lacadena JR. Genética. 4ta. ed. Madrid: A.G.E.S.A; 1988. p. 1374.
Metzger D, Olive D, Stols G. Association of endometriosis and spontaneous abortion effect of control group selection. Fertil Steril. 1986;45:18-20.
Cohen B. The postcoital test. Infertility and reproductive medicine. Clini North Am. Philadelphia: Saunders; 1991. p. 317.
Rowe PJ, Comhaire FH, Hargreave TB, Mellows HJ. WHO manual for the standardized investigation and diagnosis of the infertile couple. Cambridge, UK: Cambridge University Press; 1993.
Franks S. Diagnosis and treatment of anovulation. In: Hillier SG (ed). Ovarian endocrinology. Oxford, UK: Blackwell Scientific Publications; 1991. p. 227-38.
Robin G, Ferte-Delbende C, Prouts- Richard C, Karouz W, Dewaily D, Catteau- Jonard S. Infertilidad femenina de origen endocrino. EMC. Ginecología-Obstetricia. 2012;48(4):1-28.
Sauer M, Paulson R, Lobo R. A preliminary report on oocyte donation extending reproductive potential to women over 40. New Engl J Med. 1990;323:1157.
Cruz JR, Gindoff PR. Age and reproduction Reproductive Medicine Review. 1999;7:61-9.
Hardelin J. Xp22.3 deletions in isolated familial Kallman.s syndrome. J Clin Endocrinol Metab. 1993;76:27-91.
Mueller RF, Young ID. Emery´s Genética Médica. 10ma. edición en Español de Emery´s. Elements of meddical Genetics. Marban; 2001.
Mickle JE, Macek M Jr, Fulmer-Smentec SB, Egan MM, Schwiebert E, Guggino W, et al. A mutation of the cystic fibrosis transmenbrane conductance regulatior gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. Hum Mol Genet. 1998;7(4):729-35.
Rowe PJ. WHO´s approach to the management of the infertile couple. In: Negro Vilar A, Isidori A, Paulson J, et al (eds). Andrology and Human Reproduction. MPP Serono Symposia Publications. New York: Raven Press; 1988. p. 219-309.
Thompson JS, Thompson MW. Genética Médica. 3ra ed. Barcelona: Masson; 1985. p. 90-91.
Therman E. Human Chromosome. Struture, Behavior, Effects. New York: Springer-Verlag; 1996. p .34-47.
Thompson JS, Thompson MW. Genética Médica. 4ta. edición. Barcelona: Salvat; 1996. p. 90-100.
Lantigua A. Introducción a la Genética Médica. La Habana: Editorial Ciencias Médicas; 2004. p. 20-24.
Gardner RJM, Sutherland GR. Variant Chromosomes and Abnormalities of No Phenotypic Consequence. In: Gardner RJM, Sutherland GR, editors. Chromosome Abnormalities and Genetic Counseling. 3rd. ed. USA: Oxford University Press; 2004. p. 233-48.
Verma RS. Heterochromatin: molecular and structural aspects. New York: Cambridge University Press; 1988. p. 276-99.
Mitelman F (editor). ISCN. An International System for Human Cytogenetic Nomenclature. Karger: Basel; 1995.
Mozdarani H, Meybodi AM, Zari-Moradi S. A Cytogenetics study of couples with recurrent spontaneous abortions and infértil patiens with recurrent IVF/ICSI failure. Indian Journal of Human Genetics. 2008;14(1):1-6.
Kumar M, Thatai A, Chapadgaonkar SS. Homozygosity and heterozygosity of the pericentric inversion of chromosome 9 and its clinical impact. Journal of Clinical and Diagnostic Research. 2012;6(5):816-20.
Kalantari H, Madani T, Zari Moradi S, Mansouri Z, Almadani N, Gourabi, et al. A Cytogenetic analysis of 179 Iranian women with premature ovarian failure. Gynecological Endocrinology. 2013;29(6):588-91.
Luzzo KM, Wang Q, Purcell SH, Chi M, Jimenez PT, Grindler N, et al. High fat diet induced developmental defects in the mouse: oocyte meioticaneuploidy and fetal growth retardation/brain defects. PLoS One. 2012;7(11).
Krausz C, Giachini C, Lo Giacco D, Daguin F, Chianese C, Ars E, et al. High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. PLoS One. 2012;7(10).
Choi J, Song SH, Bak CW, Sung SR, Yoon TK, Lee DR, et al. Impaired spermatogenesis and gr/gr deletions related to Y chromosome haplogroups in Korean men. PLoS One. 2012;7(8).
Incani BJ, Mascagni BR, Pinto RD, Guaragna-Filho G, Castro CC, Sewaybricker LE, et al. Klinefelter syndrome: an unusual diagnosis in pediatric patients. J Pediatr (Rio J). 2012 Jul;88(4):323-7.
Yumura Y, Murase M, Katayama K, Segino M, Aizawa Y, Kuroda SN, et al. Yautosome translocation associated with male infertility: a case report. Hinyokika Kiyo. 2012 Jun;58(6):307-10.
Eisenberg ML, Murthy L, Hwang K, Lamb DJ, Lipshultz LI. Sperm counts and sperm sex ratio in male infertility patients. Asian J Androl. 2012 Sep;14(5):683-6.
Lehmann KJ, Kovac JR, Xu J, Fischer MA. Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions. J Assist Reprod Genet. 2012 Sep;29(9):939-42.
Mozdarani H, Ghoraeian P. Efficient combined FISH and PRINS technique for detection of DAZ microdeletion in human sperm. J Assist Reprod Genet. 2012 Sep;29(9):979-84.
Coutton C, Satre V, Arnoult C, Ray P. Genetics of male infertility: the newplayers. Med Sci (Paris). 2012 May;28(5):497-502.
Güney AI, Javadova D, Kýrac D, Ulucan K, Koc G, Ergec D, et al. Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients. Genet Mol Res. 2012 Apr 27;11(2):1039-48.
Li D, Zhang H, Wang R, Zhu H, Li L, Liu R. Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China. J Assist Reprod Genet. 2012 Aug;29(8):829-36.
Almeida C, Dória S, Moreira M, Pinto J, Barros A. Normal sperm in a 2;2 homologous male translocation carrier. J Assist Reprod Genet. 2012 Jul;29(7): 665-8.
Bronet F, Martínez E, Gaytán M, Liñán A, Cernuda D, Ariza M, et al. Sperm DNA fragmentation index does not correlate with the sperm or embryo aneuploidy rate in recurrent miscarriage or implantation failure patients. Hum Reprod. 2012 Jul;27(7):1922-9.
Yu Y, Yan J, Li M, Yan L, Zhao Y, Lian Y, et al. Effects of combined epidermal growth factor, brain-derived neurotrophic factor and insulin-like growth factor-1 on human oocyte maturation and early fertilized and cloned embryo development. Hum Reprod. 2012 Jul;27(7):2146-59.