Does detection of DDX4 mRNA in cell-free seminal plasma represents a reliable noninvasive germ cell marker in patients with nonobstructive azoospermia?

Andrologia. 2017 Oct;49(8). doi: 10.1111/and.12739. Epub 2016 Dec 21.

Abstract

This study aimed to investigate the potential application of DDX4 gene expression in cell-free seminal mRNA as a noninvasive biomarker for the identification of the presence of germ cells in men with nonobstructive azoospermia and to correlate this factor with testicular biopsy. Male reproductive organ-specific genes were chosen: DDX4, which is a germ cell-specific gene and transglutaminase 4, which is a prostate-specific gene that was used as a control gene. Thirty-nine azoospermic males and twenty-eight normospermic fertile males (serving as a control group) participated in the study. Histopathological examination of testicular biopsies categorised azoospermic males into 20.5% with maturation arrest, 17.9% with incomplete Sertoli cell-only syndrome and 61.5% with complete Sertoli cell-only syndrome. Using real-time polymerase chain reaction, positivity for DDX4 gene was detected in 17 of 39 males with NOA which was due to maturation arrest in 35.3% (n = 6/17) of cases, due to incomplete Sertoli cell only in 23.5% (n = 4/17) and due to complete Sertoli cell only in 41.2% (n = 7/17). The study recommends joint utilisation of molecular transcripts as noninvasive biomarkers and histopathological examination of testicular biopsies in management of cases with azoospermia of the nonobstructive type.

Keywords: azoospermia; free seminal mRNA; marker; nonobstructive.

MeSH terms

  • Adult
  • Azoospermia / genetics
  • Azoospermia / metabolism*
  • Azoospermia / pathology
  • Biomarkers / metabolism
  • DEAD-box RNA Helicases / genetics
  • DEAD-box RNA Helicases / metabolism*
  • Follicle Stimulating Hormone / blood
  • Germ Cells / metabolism*
  • Germ Cells / pathology
  • Humans
  • Luteinizing Hormone / blood
  • Male
  • Retrospective Studies
  • Semen / metabolism*
  • Semen Analysis
  • Spermatozoa / metabolism*
  • Spermatozoa / pathology
  • Testis / pathology
  • Transglutaminases / genetics
  • Transglutaminases / metabolism

Substances

  • Biomarkers
  • Luteinizing Hormone
  • Follicle Stimulating Hormone
  • transglutaminase 4
  • Transglutaminases
  • DDX4 protein, human
  • DEAD-box RNA Helicases

Supplementary concepts

  • Azoospermia, Nonobstructive