Azoospermia: a Genomic Review

Manggiasih D. Larasati
Silvia Werdhy Lestari
August 2017  •  DOI: 10.23886/ejki.5.6622.


Azoospermia or the absence of sperm in semen is one of the sperm disorders that results in male infertility. There are two types of azoospermia, the first one isazoospermia caused by obstruction of the vas deferens (obstructive azoospermia) and the second one is azoospermia due to the damage of testes (nonobstructive azoospermia). The etiology of azoospermia could be genetic or non-genetic. Genetic factors may occur in genomics starting from chromosome until gene level or single nucleotide polymorphism (SNPs). At the chromosome level, there is Klinefelter’s syndrome (47, XXY) to the Y chromosome microdeletion, whereas at the gene level there is mutation of jsd, Bmp8b and other genes. At the level of SNPs, Genome Wide SNP Association Study (GWAS) had uncovered 20 SNPs which were related significantly to azoospermia. Extensive knowledge of genomics review on male infertility, is expected to promote the development of investigation and management of azoospermia.

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