Based on these findings, the authors’ laboratory succeeded for the first time in identifying the azoospermia culprit gene, SYCP3, outside of the AZF region of the Y chromosome, on human chromosome 12.10 In 2009, it was reported that mutations in human SYCP3 are associated with recurrent pregnancy loss.17 Two out of 26 women with recurrent pregnancy losses of unknown cause were found to carry independent heterozygous nucleotide alterations in SYCP3, neither of which was present among a group of 150 fertile women. Here, SYCP3 is linked to Azoospermia.