Variantes genéticas asociadas con infertilidad masculina en pacientes mexicanos

Translated title of the contribution: Genetic variants associated to male infertility in Mexican patients

Raul Eduardo Piña-Aguilar, María del Carmen Chima-Galán, María de la Concepción A Yerena-de-vega, Miguel Angel Regalado-Hernández, Cecilia Sánchez-Guerrero, Liliana García-Ortiz, Yuritzi Santillán-Hernández, Jesús Daniel Moreno-García

Research output: Contribution to journalArticle

Abstract

Recently, Mexican Federation of Obstetrics and Gynecology Colleges (Federación Mexicana de Colegios de Obstetricia y Ginecologia, FEMECOG) published the Mexican guideline forthe management of male infertility, which suggests performing genetic laboratory tests as part of diagnosis and management of infertile patients and states that these should receive genetic counseling. This paper reviews the genetic approach proposed by Mexican guideline. A systematic review of medical literature was performed in Pubmed and Web of Knowledge from 1980 to 2012 in order to find reports of genetic variants associated to male infertility in Mexican patients. Also it is discussed the current knowledge of these variants, their clinical implications and finally the guidelines and recommendations for their molecular diagnosis. Most genetic variants in Mexican infertile patients are chromosome abnormalities. In relation to other variants there is only a report of Y chromosome microdeletions, repeated CAG in androgen receptor and more common mutations in CFTR, and other article reporting mutations in CFTR in patients with congenital absence of vas deferens. Little is known about the genetics of Mexican infertile patients apart from chromosome abnormalities. However, the contribution of genetics as etiology of male infertility is taking more relevance and currently the consensual management of infertile male should include the screening of genetic background. This review pretends to be a quick guide for clinicians who want to know about reports of genetic variants related to male infertility in Mexican population and how to approach their diagnosis.

Original languageSpanish
Pages (from-to)245-258
Number of pages14
JournalGinecologia y obstetricia de Mexico
Volume81
Issue number5
Publication statusPublished - May 2013

Keywords

  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosomes, Human, Y
  • Cystic Fibrosis
  • Genetic Variation
  • Humans
  • Infertility, Male
  • Mexico

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    Piña-Aguilar, R. E., Chima-Galán, M. D. C., Yerena-de-vega, M. D. L. C. A., Regalado-Hernández, M. A., Sánchez-Guerrero, C., García-Ortiz, L., Santillán-Hernández, Y., & Moreno-García, J. D. (2013). Variantes genéticas asociadas con infertilidad masculina en pacientes mexicanos. Ginecologia y obstetricia de Mexico, 81(5), 245-258. https://ginecologiayobstetricia.org.mx/secciones/articulos-de-revision/variantes-geneticas-asociadas-con-infertilidad-masculina-en-pacientes-mexicanos/