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

1 Department of Integrative Cancer Therapy and Urology, Kanazawa University Graduate School of Medical Science, Kanazawa 920-8641, Japan
2 Kyono ART Clinic, Sendai 980-0014, Japan
3 Kyono ART Clinic, Takanawa, Tokyo 108-0074, Japan
4 Suzuki Lady's Hospital, Kanazawa 921-8033, Japan
5 Ebisu Tsuji Clinic, Tokyo 150-0021, Japan
6 Tenjin Tsuji Clinic, Fukuoka 810-0001, Japan
7 Dokkyo Medical University Koshigaya Hospital, Saitama 343-8555, Japan
8 Department of Urology, Faculty of Medicine, Toho University, Tokyo 143-8541, Japan

Correspondence Address:
Masashi Iijima,
Department of Integrative Cancer Therapy and Urology, Kanazawa University Graduate School of Medical Science, Kanazawa 920-8641
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aja.aja_97_19

PMID: 31603142

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.

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