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Federación Mexicana de Ginecología y Obstetricia, A.C.

2013, Número 05

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Ginecol Obstet Mex 2013; 81 (05)


Variantes genéticas asociadas con infertilidad masculina en pacientes mexicanos

Piña-Aguilar RE, Chima-Galán MC, Yerena-de-Vega MCA, Regalado-Hernández MÁ, Sánchez-Guerrero C, García-Ortiz L, Santillán-Hernández Y, Moreno-García JD

Idioma: Español
Referencias bibliográficas: 70
Paginas: 245-258
Archivo PDF: 443.35 Kb.


RESUMEN

Recientemente, la Federación Mexicana de Colegios de Obstetricia y Ginecología (FEMECOG) publicó la guía para el tratamiento de la infertilidad masculina en la que recomienda realizar estudios genéticos, como parte del diagnóstico y tratamiento, y proporcionarle asesoramiento genético a la pareja. Este artículo revisa el estudio genético propuesto en la guía mexicana. Se realizó una revisión sistemática de la bibliografía en Pubmed y en el Web of Knowledge de 1980 a 2012 de las variantes genéticas asociadas con la infertilidad masculina en pacientes mexicanos. También se discute el conocimiento actual de estas variantes, sus implicaciones clínicas y los lineamientos y recomendaciones para el diagnóstico molecular. Las variantes genéticas en pacientes infértiles mexicanos reportadas en la mayor parte de los estudios son las alteraciones cromosómicas. En lo que respecta a otras variantes sólo hay un reporte que estudió, simultáneamente, microdeleciones del cromosoma Y, expandidos CAG en el receptor de andrógenos y mutaciones más comunes del gen CFTR y otro artículo que encontró mutaciones en el gen CFTR en pacientes con ausencia congénita de vasos deferentes. Poco se conoce de la genética de pacientes infértiles mexicanos, a excepción de las alteraciones cromosómicas. Sin embargo, la contribución de la genética como causa de infertilidad masculina cobra cada vez más relevancia y actualmente el tratamiento consensuado del hombre infértil incluye la valoración del componente genético. Por tanto, este artículo pretende ser una orientación rápida para los clínicos que desean conocer qué se ha reportado acerca de las variantes genéticas relacionadas con infertilidad masculina en población mexicana y cómo establecer su diagnóstico.


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