Infertility treatment for patients having a microdeletion of azoospermic factor (AZF)

In genetic causes of male infertility, Y chromosome microdeletions are the second most common after Klinefelter’s syndrome. Although sperm recovery rate is relatively high for subjects with azoospermic factor (AZF) c chromosome microdeletion, intracytoplasmic sperm injection (ICSI) results using retrieved sperm has been reported to be poor. We retrospectively examined the infertility treatment for subjects with AZF microdeletion. From October 2017 to September 2020, chromosomal examination of 67 azoospermic subjects and 12 cryptozoospermia were performed. Of these, twenty-three subjects (29.1%) had AZF microdeletion. Twelve subjects with AZFc microdeletion and one subtype with unknown classification (Ym-9; P3 deletion) received sperm retrieval surgery due to azoospermia. Two subjects obtained motile sperm by microscopic epididymal sperm aspiration (MESA) and four subjects by microscopic testicular sperm extraction (micro-TESE). Pregnancy and healthy delivery were achieved in 6 of 14 subject (42.9%; including one twin) using ICSI. This was comparable with previous reports. Since there were two cases of obstructive azoospermia, we employed MESA to avoid testicular damage. Following observation of the testis and epididymis under operative microscope, a decision was made to perform sperm retrieval surgery to avoid unnecessary testicular damage. Furthermore, since AZFc microdeletion is passed to the next generation, long term follow-up is necessary.