Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China

Azoospermia factor (AZF) microdeletions are the most frequent genetic cause of male infertility after Klinefelter's syndrome. Although some assisted reproductive techniques such as intracytoplasmic sperm injection (ICSI) have been successfully introduced to clinical treatment for infertile males, the AZF microdeletions might be transmitted from infertile fathers to their male offspring during these procedures. Thus, it is important to carefully evaluate AZF microdeletions in infertile males before assisted reproductive techniques are performed. In this article, we aimed to investigate the frequencies of AZF microdeletions in 137 infertile males with azoospermia and severe oligozoospermia from Jilin province of China and analyse the relationship between the levels of reproductive hormones and AZF microdeletions. Result analysis showed that AZF microdeletions were present in 8 (8.70%) azoospermic males and 3 (6.67%) severely oligozoospermic males. The most frequent microdeletions were detected in the AZFc region, followed by AZFb + c, AZFb and AZFa. And there was no significant correlation between the AZF microdeletion and the levels of reproductive hormones. These findings reinforce the necessity of AZF microdeletion testing among infertile males prior to employment of assisted reproduction techniques in Jilin province of China.