Aoki Shun, Takeshima Teppei, Mimura Noboru, Seki Haruka, Yumura Yasushi
Department of Urology, Reproduction Center, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan.
Transl Androl Urol. 2025 Jan 31;14(1):191-195. doi: 10.21037/tau-24-426. Epub 2025 Jan 22.
Y chromosome microdeletion is one of the major causes of male infertility, and obtaining mature spermatozoa in complete azoospermic factor (AZF)b deletion cases is difficult because germ cells maturation has arrested. However, there are very few reports on spermatogenesis in partial deletions of the AZFb region. We herein report a case of partial AZFb deletion in which sperm were successfully recovered by microdissection testicular sperm extraction (micro-TESE).
A 34-year-old man with cryptozoospermia was referred to Reproduction Center, Yokohama City University Medical Center. Both testicular sizes were normal, and the seminal tract had no abnormalities. Serum testosterone and follicle-stimulating hormone levels were also normal. The karyotype was 46,XY, and the Y chromosomal microdeletion test showed no amplification of the sequence-tagged site marker sY1024, which is the proximal part of the AZFb region. We performed micro-TESE, and subsequently identified and cryopreserved many malformed immotile spermatozoa. Intracytoplasmic sperm injection was performed using frozen-thawed testicular sperm that showed slight mobility, but the embryos rarely reached the good blastocyst stage. Although two frozen-thawed embryo transfers were performed, no pregnancies resulted.
In cases of partial AZFb deletion, spermatogenesis may be preserved, and surgical sperm retrieval should be considered even in cases of azoospermia.
Y染色体微缺失是男性不育的主要原因之一,在完全性无精子因子(AZF)b缺失病例中,由于生殖细胞成熟停滞,很难获得成熟精子。然而,关于AZFb区域部分缺失时精子发生的报道非常少。我们在此报告一例AZFb部分缺失病例,通过显微切割睾丸精子提取术(micro-TESE)成功获取了精子。
一名34岁的隐匿性精子症男性被转诊至横滨市立大学医学中心生殖中心。双侧睾丸大小正常,输精管道无异常。血清睾酮和卵泡刺激素水平也正常。核型为46,XY,Y染色体微缺失检测显示AZFb区域近端的序列标签位点标记sY1024无扩增。我们进行了micro-TESE,随后鉴定并冷冻保存了许多畸形的无活动力精子。使用显示有轻微活动力的冻融睾丸精子进行了卵胞浆内单精子注射,但胚胎很少能发育到优质囊胚阶段。尽管进行了两次冻融胚胎移植,但均未妊娠。
在AZFb部分缺失的病例中,精子发生可能得以保留,即使在无精子症的情况下,也应考虑手术取精。