• AZFc deletions and males infertility
  • Fatemeh Mohebi,1,* Mina Soleimani,2 Hanane Hamidi,3
    1. Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
    2. Iran University of Medical Sciences, Tehran, Iran
    3. Khalkhal University of Medical Science, Khalkhal, Iran


  • Introduction: Introduction: Infertility globally affects approximately 10-15% of couples which male factor infertility is a contributor in 50% of cases. Genetic defects are one of the factors that can cause male infertility. It has been estimated that the frequency of Yq microdeletions in infertile men is approximately 330 times more than its occurrence among infertile men in the population. Most commonly Yq deletions recur in Azoospermia Factor (AZF) loci and it has been shown that the AZFc is the most frequently deleted locus in infertile men.
  • Methods: Methods: At Pub Med and Science Direct, we examined 20 studies conducted from 2015 to 2021 by using key- words male infertility, Y chromosome, AZF, and microdeletion.
  • Results: Results: The AZFc locus is made out of repeated sequences and palindromes consequently making it most susceptible to deletions. AZFc involves a complete deletion (b2/b4 region) and many partial deletions that include b1/b3, b2/b3, and three variations of the gr/gr. 3 studies have reported an association between b1/b3 deletion and male infertility. 12 studies reported a poor (but statistically significant) correlation of b2/b3 deletion and male infertility. There has been a lot of controversies over the association of gr/ gr deletion with male infertility. It was demonstrated that the gr/gr deletion may not be a direct cause of infertility, but it disrupts the spermatogenesis process, which leads to a decrease in sperm count. It has been shown that the frequency of gr/gr is twice in the infertile men.
  • Conclusion: Conclusion: These observations indicate that regardless of the type of deletion, the loss of gene copies in AZFc increases the sensitivity of an individual to a decrease in sperm count.
  • Keywords: Keywords: male infertility, Y chromosome, AZF, microdeletion