Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss

Am J Obstet Gynecol. 2008 Dec;199(6):662.e1-5. doi: 10.1016/j.ajog.2008.06.013. Epub 2008 Sep 25.

Abstract

Objective: This study was undertaken to determine the prevalence of Y-chromosome microdeletions in couples with recurrent pregnancy loss (RPL) as compared with fertile couples.

Study design: Forty-three men from couples with recurrent pregnancy loss, and 43 men from couples with a live birth and no history of miscarriages were recruited from Zekai Tahir Burak Woman Health, Education and Research Hospital. The DNA was tested for the presence of 4 sequence tagged sites (STSs) spanning 4 AZF regions: DYS220 (AZFb), DYS235, DYS236, and DYS237 (AZFd).

Results: Seven (7) of the 43 men (16%) from couples with recurrent pregnancy loss had microdeletions in 1 or more of the 4 segments studied, whereas none of the fertile men had any microdeletions (P < .05). Their microdeletions were all found specifically at locus DYS 220 (AZFb).

Conclusion: The prevalence of the Y chromosome microdeletion in AZF region was much higher in men from couples with recurrent pregnancy loss than men in fertile couples. This study showed that Y chromosome microdeletion in AZF region may be a possible etiologic factor of recurrent pregnancy loss.

Publication types

  • Comparative Study

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Case-Control Studies
  • Chromosomes, Human, Y / genetics*
  • Cohort Studies
  • Female
  • Follow-Up Studies
  • Gene Deletion*
  • Humans
  • Infertility, Male / genetics
  • Male
  • Oligospermia / genetics*
  • Polymerase Chain Reaction
  • Pregnancy
  • Probability
  • Recurrence
  • Reference Values
  • Sex Chromosome Aberrations*
  • Statistics, Nonparametric