Journal of Human Reproductive Science
Home Ahead of Print Current Issue Archives
   Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size    Users online: 814


 
REVIEW ARTICLE Table of Contents   
Year : 2021  |  Volume : 14  |  Issue : 3  |  Page : 217-227
Genetics of male infertility – Present and future: A narrative review


1 Department of Gamete Immunobiology, ICMR-National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India
2 Lilavati Hospital and Research Centre, Mumbai, Maharashtra, India
3 Clinical Research Lab and Andrology Clinic, ICMR-National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India

Correspondence Address:
Dr. Rahul K Gajbhiye
Scientist D & DBT Wellcome India Alliance Clinical & Public Health Intermediate Fellow, Clinical Research Lab and Andrology Clinic, ICMR-National Institute for Research in Reproductive Health, Mumbai, Maharashtra
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jhrs.jhrs_115_21

Rights and Permissions

Infertility affects 8%–12% of couples worldwide with a male factor contributing to nearly 50% of couples either as a primary or contributing cause. Several genetic factors that include single-gene and multiple-gene defects associated with male infertility were reported in the past two decades. However, the etiology remains ambiguous in a majority of infertile men (~40%). The objective of this narrative review is to provide an update on the genetic factors associated with idiopathic male infertility and male reproductive system abnormalities identified in the last two decades. We performed a thorough literature search in online databases from January 2000 to July 2021. We observed a total of 13 genes associated with nonobstructive azoospermia due to maturation/meiotic arrest. Several studies that reported novel genes associated with multiple morphological abnormalities of the sperm flagella are also discussed in this review. ADGRG2, PANK2, SCNN1B, and CA12 genes are observed in non-CFTR-related vas aplasia. The genomic analysis should be quickly implemented in clinical practice as the detection of gene abnormalities in different male infertility phenotypes will facilitate genetic counseling.


[FULL TEXT] [PDF]*
Print this article  Email this article
    

  Similar in PUBMED
    Search Pubmed for
    Search in Google Scholar for
  Related articles
   Citation Manager
  Access Statistics
   Reader Comments
   Email Alert *
   Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1584    
    Printed18    
    Emailed0    
    PDF Downloaded198    
    Comments [Add]    

Recommend this journal