Journal of Human Reproductive Sciences

REVIEW ARTICLE
Year
: 2021  |  Volume : 14  |  Issue : 3  |  Page : 217--227

Genetics of male infertility – Present and future: A narrative review


Digumarthi V S Sudhakar1, Rupin Shah2, Rahul K Gajbhiye3 
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

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.


How to cite this article:
Sudhakar DV, Shah R, Gajbhiye RK. Genetics of male infertility – Present and future: A narrative review.J Hum Reprod Sci 2021;14:217-227


How to cite this URL:
Sudhakar DV, Shah R, Gajbhiye RK. Genetics of male infertility – Present and future: A narrative review. J Hum Reprod Sci [serial online] 2021 [cited 2021 Dec 4 ];14:217-227
Available from: https://www.jhrsonline.org/article.asp?issn=0974-1208;year=2021;volume=14;issue=3;spage=217;epage=227;aulast=Sudhakar;type=0