Clinical implications of Y chromosome microdeletions among infertile men

Best Pract Res Clin Endocrinol Metab. 2020 Dec;34(6):101471. doi: 10.1016/j.beem.2020.101471. Epub 2020 Nov 5.

Abstract

Male factor infertility contributes significantly to couples facing difficulty achieving a pregnancy. Genetic factors, and specifically those related to the Y chromosome, may occur in up to 15% of men with oligozoospermia or azoospermia. A subset of loci within the Y chromosome, known as the azoospermia factors (AZFa, AZFb, and AZFc), have been associated with male infertility. Emerging evidence has demonstrated that microdeletions of at least a subset of these regions may also have impacts on systemic conditions. This review provides a brief review of male infertility and the structure of the Y chromosome, and further highlights the role of Y chromosome microdeletions in male infertility and other systemic disease.

Keywords: Y chromosome; Y chromosome microdeletions; male infertility.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Azoospermia / diagnosis
  • Azoospermia / epidemiology
  • Azoospermia / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Y
  • Female
  • Humans
  • Infertility, Male / diagnosis*
  • Infertility, Male / epidemiology
  • Infertility, Male / genetics
  • Male
  • Oligospermia / diagnosis
  • Oligospermia / epidemiology
  • Oligospermia / genetics
  • Pregnancy
  • Prognosis
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development / diagnosis*
  • Sex Chromosome Disorders of Sex Development / epidemiology

Supplementary concepts

  • Male sterility due to Y-chromosome deletions