Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects

Int J Urol. 2019 Feb;26(2):292-298. doi: 10.1111/iju.13863. Epub 2018 Nov 26.

Abstract

Objectives: To detect autosomal genetic defects and to determine candidate genes in Sertoli cell-only syndrome infertile men.

Methods: Single-nucleotide polymorphism + comparative genomic hybridization microarray technology was carried out on 39 Sertoli cell-only syndrome infertile patients in the present study. Array comparative genomic hybridization compares the patient's genome against a reference genome, and identifies uncover deletions, amplifications and loss of heterozygosity.

Results: A link between defective spermatogenesis genes and infertility was examined, and amplifications and deletions in several genes were detected, including homeobox gene; synaptonemal complex element protein 1; collagen, type I, alpha 1; imprinted maternally expressed transcript; and potassium voltage-gated channel subfamily Q member 1.

Conclusions: The present data suggest that several genes can play an important role in spermatogenesis and progression of Sertoli cell-only syndrome.

Keywords: Sertoli cell-only syndrome; array comparative genomic hybridization; infertility.

MeSH terms

  • Adult
  • Cell-Free Nucleic Acids / genetics
  • Cell-Free Nucleic Acids / isolation & purification
  • Comparative Genomic Hybridization / methods
  • Disease Progression
  • Gene Amplification
  • Genome, Human / genetics*
  • Humans
  • Loss of Heterozygosity
  • Male
  • Polymorphism, Single Nucleotide
  • Retrospective Studies
  • Seminiferous Tubules / pathology
  • Sertoli Cell-Only Syndrome / blood
  • Sertoli Cell-Only Syndrome / genetics*
  • Sertoli Cell-Only Syndrome / pathology
  • Spermatogenesis / genetics*

Substances

  • Cell-Free Nucleic Acids