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Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia

Saffet Ozturk1

  • 1Department of Histology and Embryology, Akdeniz University School of Medicine, Antalya, Turkey.

Cell Cycle (Georgetown, Tex.)
|February 6, 2023
PubMed

Insights

Spermatogenic arrest, a cause of infertility in men, is linked to genetic variants affecting cell division and germline development. Understanding these variants can help develop new treatments for non-obstructive azoospermia.

Area of Science:

  • Reproductive Biology
  • Genetics
  • Male Infertility

Background:

  • Spermatogenic arrest causes non-obstructive azoospermia (NOA) in 10-15% of infertile men.
  • This arrest results from disruptions in premeiotic, meiotic, or postmeiotic germ cell progression.

Purpose of the Study:

  • To review genetic variants associated with spermatogenic arrest in NOA.
  • To discuss the utility of gene panel screening for identifying genetic causes of NOA.

Main Methods:

  • Comprehensive review of genetic variants identified through genome/exome sequencing in NOA patients.
  • Analysis of knockout mouse models for genes implicated in spermatogenic failure.
  • Discussion on the application of gene panel-based screening.

Main Results:

  • Numerous genetic variants have been identified in genes crucial for mitosis, meiosis, and germline differentiation.
  • Knockout mouse models have been developed to study the functional impact of these variants.
  • Gene panel screening shows promise for diagnosing NOA cases.

Conclusions:

  • Genetic variants play a significant role in spermatogenic arrest and NOA.
  • Further research into these variants and gene panel screening can advance diagnostic and therapeutic strategies for male infertility.
Keywords:
Spermatogenic arrestgene panelgenetic variantsmale infertilitynon-obstructive azoospermia

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