Cytogenetic, Y chromosome microdeletion, sperm chromatin and oxidative stress analysis in male partners of couples experiencing recurrent spontaneous abortions

Arch Gynecol Obstet. 2011 Dec;284(6):1577-84. doi: 10.1007/s00404-011-1990-y. Epub 2011 Jul 22.

Abstract

Purpose: Etiology in majority of couples experiencing recurrent spontaneous abortions (RSA) is still unknown. The aim of the study was to find the role of cytogenetic abnormalities, Y chromosome microdeletion, oxidative stress (OS) and sperm DNA fragmentation in male partners of couples experiencing RSA.

Methods: Forty-eight couples with history of RSA and 20 fertile controls were included in the study. The study subjects were divided into male partners of RSA couples with abnormal sperm parameters (SA) (N = 16), male partners of RSA couples with normal sperm parameters (NS) (N = 32) and age-matched fertile controls with normal sperm parameters (FC) (N = 20).

Results: One of 48 men (2%) showed 46, XY (1qh-) chromosomal complement. None of the cases including FC showed deletion in any of the 3 AZF loci on Y chromosome long arm. Sperm count was found be significantly lower in SA cases as compared to group NS cases (P < 0.0001) and FC (P < 0.005). Sperm forward motility was found to be significantly (P < 0.05) lower in SA cases as compared to NS and FC. Male partners of RSA couples with abnormal sperm parameters had higher reactive oxygen species (ROS) levels (P < 0.005) and sperm DNA damage (P < 0.0001), however, in male partners of RSA couples with normal sperm parameters had only increased (P < 0.0001) sperm DNA damage.

Conclusion: Other than chromosomal anomalies, sperm DNA fragmentation and seminal OS may be the underlying pathology in RSA, thus screening for seminal ROS levels and DNA fragmentation has diagnostic and prognostic capabilities.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / etiology
  • Abortion, Habitual / genetics*
  • Abortion, Habitual / metabolism
  • Adult
  • Case-Control Studies
  • Chromatin / ultrastructure
  • Chromosome Deletion
  • Chromosomes, Human, Y / genetics
  • Chromosomes, Human, Y / metabolism
  • DNA Fragmentation
  • Female
  • Humans
  • Infertility, Male
  • Male
  • Oxidative Stress*
  • Reactive Oxygen Species / metabolism
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development / genetics*
  • Sex Chromosome Disorders of Sex Development / metabolism
  • Sperm Count
  • Spermatozoa / metabolism
  • Spermatozoa / ultrastructure*

Substances

  • Chromatin
  • Reactive Oxygen Species

Supplementary concepts

  • Male sterility due to Y-chromosome deletions