AZF deletions in Indian populations: original study and meta-analyses

J Assist Reprod Genet. 2020 Feb;37(2):459-469. doi: 10.1007/s10815-019-01661-0. Epub 2020 Jan 9.


Purpose: To identify the frequency of Y chromosome microdeletions in Indian populations and to quantitatively estimate the significance of association between these deletions and male infertility.

Methods: A total of 379 infertile males (302 azoospermic and 77 oligozoospermic infertile males) and 265 normozoospermic fertile males were evaluated for Y chromosome microdeletions (YCD) using PCR amplification and gel electrophoresis. Meta-analyses were performed on AZFa (2079 cases and 1217 controls), AZFb (2212 cases and 1267 controls), AZFc (4131 cases and 2008 controls), and AZFb+c (1573 cases and 942 controls) deletions data to quantitatively estimate the significance of association between these deletions and male infertility in Indian populations.

Results: The results revealed that out of 379 infertile azoospermic and oligozoospermic males, 38 (10.02%) had AZF deletions. No deletion was found in control samples. The highest percentage of deletions was observed in the AZFc region, followed by AZFa and AZFb. Qualitative analysis showed that AZF deletions were present in 0.59 to 32.62% (average 13.48%) of infertile cases in Indian populations. Meta-analysis revealed a significant association of AZFa (OR = 6.74, p value = 0.001), AZFb (OR = 4.694, p value = 0.004), AZFc (OR = 13.575, p value = 0.000), and AZFb+c (OR = 5.946, p value = 0.018) deletions with male infertility.

Conclusion: AZF deletions were seen in 10.02% of azoospermic and oligozoospermic cases with the highest frequency of AZFc deletions. Pooled analysis for all studies showed deletion frequency from 0.59 to 32.62% (average = 13.48%). Meta-analysis showed significant association of AZFa, AZFb, and AZFb+c deletions with male infertility. Analysis of Y chromosome microdeletions should be reckoned as an essential testing for diagnostic and therapeutic purposes.

Keywords: AZF deletions; Azoospermia; Azoospermia factor; Male infertility; Oligozoospermia; Y-deletions.

Publication types

  • Meta-Analysis

MeSH terms

  • Adult
  • Azoospermia / epidemiology
  • Azoospermia / genetics*
  • Azoospermia / pathology
  • Chromosome Deletion
  • Chromosomes, Human, Y / genetics
  • Genetic Diseases, Y-Linked / epidemiology
  • Genetic Diseases, Y-Linked / genetics*
  • Genetic Diseases, Y-Linked / physiopathology
  • Humans
  • India / epidemiology
  • Infertility, Male / epidemiology
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Infertility, Male / physiopathology
  • Male
  • Oligospermia / epidemiology
  • Oligospermia / genetics*
  • Oligospermia / physiopathology
  • Polymerase Chain Reaction
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development / epidemiology
  • Sex Chromosome Disorders of Sex Development / genetics*
  • Sex Chromosome Disorders of Sex Development / pathology
  • Young Adult

Supplementary concepts

  • Male sterility due to Y-chromosome deletions
  • Spermatogenic Failure, Nonobstructive, Y-Linked