Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility

Abstract

The azoospermia factor (AZF) region is important for spermatogenesis, and deletions within these regions are a common cause of oligozoospermia and azoospermia. Although several studies have reported this cause, the present research, to the best of our knowledge, is the first large-scale study assessing this factor in Japan. In this study, 1030 male patients with infertility who were examined for Y chromosome microdeletion using the polymerase chain reaction-reverse sequence-specific oligonucleotide (PCR-rSSO) method, a newly developed method for Y chromosome microdeletion screening, were included. The study enrolled 250 patients with severe oligospermia and 717 patients with azoospermia. Among the 1030 patients, 4, 4, 10, and 52 had AZFa, AZFb, AZFb+c, and AZFc deletions, respectively. The sperm recovery rate (SRR) of microdissection testicular sperm extraction in patients with AZFc deletions was significantly higher than that in those without AZF deletions (60.0% vs 28.7%, P = 0.04). In patients with gr/gr deletion, SRR was 18.7%, which was lower than that in those without gr/gr deletion, but was not statistically significant. In conclusion, our study showed that the frequency of Y chromosome microdeletion in male patients in Japan was similar to that reported in patients from other countries, and SRR was higher in patients with AZFc deletion.

Genome medicine in male infertility: From karyotyping to single‐cell analysis

“…Deletions in the AZFc region do not always cause azoospermia, and gr / gr deletions are commonly observed in a certain percentage of Asian people. Iijima et al reported that the frequency of AZF microdeletions in Japanese men was similar to that reported in patients from other countries, and the sperm retrieval rate was higher in patients with AZFc deletions 18 …”

Genetic disorders and male infertility

“…This indicated that gr/gr deletions do not influence spermatogenesis in the Japanese population 77 . In 2019, Iijima et al, 78 the same research group, reported almost the same proportion of gr/gr deletions among 1030 infertile males in Japan. However, they also stated that SRR in patients with gr/gr deletion was relatively lower than that in patients without the deletion (18.8% vs 28.7%, P = .09), although the difference was not statistically significant.…”

Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y

“…Prior to the present study, all patients underwent conventional G‐banding analysis for 20 peripheral leukocytes and were found to have a normal 46,XY karyotype. In addition, the patients were subjected to copy‐number analysis of the AZF regions, which showed the lack of AZF deletion in 132 of 198 patients. The common gr/gr, AZFb, AZFc, and AZFb+c deletions were detected in 49, 1, 15, and 1 patient(s), respectively.…”