Expression pattern of germ cell-specific genes in the testis of patients with nonobstructive azoospermia: usefulness as a molecular marker to predict the presence of testicular sperm

Fertil Steril. 2000 Jun;73(6):1104-8. doi: 10.1016/s0015-0282(00)00520-3.

Abstract

Objective: To analyze the expression pattern of testis-specific genes of patients with various spermatogenic defects and their usefulness as a molecular marker to predict the presence of testicular spermatozoa in patients with nonobstructive azoospermia undergoing IVF.

Design: Prospective, controlled study.

Setting: Hospital-based infertility research laboratory.

Patient(s): Fifty-eight men with azoospermia or severe oligozoospermia.

Intervention(s): Testicular biopsy was done in the patients with obstructive or nonobstructive azoospermia, including Sertoli cell-only syndrome, maturation arrest, severe hypospermatogenesis, and normal spermatogenesis.

Main outcome measure(s): Reverse transcriptase polymerase chain reaction was performed using 1 microgram of total RNA extracted from testicular tissues. Three pairs of primers were used for amplification of male germ cell-specific genes (DAZ, transcribed in male germ cells; PGK2, in late spermatocytes and spermatids; protamine-2, in spermatids) as molecular markers. Testicular sperm was obtained by multiple testicular sperm extraction.

Result(s): The DAZ, PGK2, and protamine-2 genes were expressed in 38, 30, and 21 of the 43 patients with nonobstructive azoospermia, respectively. Testicular spermatozoa were successfully extracted in 4 of 43 patients with nonobstructive azoospermia with the use of multiple testicular sperm extraction. Detection of protamine-2 transcripts predicted the presence or absence of spermatozoa in the testicular tissue in 39 of 43 patients (91%).

Conclusion(s): Expression of the protamine-2 gene may be a useful molecular marker to predict the presence of testicular sperm in patients with nonobstructive azoospermia.

MeSH terms

  • Adult
  • Deleted in Azoospermia 1 Protein
  • Gene Expression*
  • Genetic Markers
  • Humans
  • Isoenzymes / genetics
  • Male
  • Middle Aged
  • Oligospermia / genetics*
  • Phosphoglycerate Kinase / genetics
  • Prospective Studies
  • Protamines / genetics
  • RNA-Binding Proteins / genetics
  • Spermatogenesis
  • Spermatozoa / physiology*
  • Testis / physiopathology*

Substances

  • DAZ1 protein, human
  • Deleted in Azoospermia 1 Protein
  • Genetic Markers
  • Isoenzymes
  • Protamines
  • RNA-Binding Proteins
  • protamine 2
  • Phosphoglycerate Kinase
  • phosphoglycerate kinase, testis specific