Where are we going with gene screening for male infertility?

Fertil Steril. 2019 May;111(5):842-850. doi: 10.1016/j.fertnstert.2019.03.036.

Abstract

Male infertility is a heterogenous disease process requiring the proper functioning and interaction of thousands of genes. Given the number of genes involved, it is thought that genetic causes contribute to most cases of infertility. Identifying these causes, however, is challenging. Infertility is associated with negative health outcomes, such as cancer, highlighting the need to further understand the genetic underpinnings of this condition. This paper describes the genetic and genomic tests currently available to identify the etiology of male infertility and then will discuss emerging technologies that may facilitate diagnosis and treatment of in the future.

Keywords: Male infertility; genetics; next generation sequencing.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Y / genetics
  • Genetic Testing / methods*
  • Genetic Testing / trends
  • Humans
  • Infertility, Male / diagnosis
  • Infertility, Male / genetics*
  • Karyotyping / methods
  • Karyotyping / trends
  • Male
  • Protein Array Analysis / methods
  • Protein Array Analysis / trends
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development / diagnosis
  • Sex Chromosome Disorders of Sex Development / genetics*

Supplementary concepts

  • Male sterility due to Y-chromosome deletions