Chen Gang-Xin, Sun Yan, Yang Rui, Huang Zhi-Qing, Li Hai-Yan, Zheng Bei-Hong
Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou 350001, China.
Fujian Maternal-Fetal Clinical Medicine Research Center, Fuzhou 350001, China.
Asian J Androl. 2025 Mar 1;27(2):231-238. doi: 10.4103/aja202478. Epub 2024 Oct 18.
Y chromosome microdeletions are an important cause of male infertility. At present, research on the Y chromosome is mainly focused on analyzing the loss of large segments of the azoospermia factor a/b/c (AZFa/b/c) gene, and few studies have reported the impact of unit point deletion in the AZF band on fertility. This study analyzed the effect of sperm quality after sY1192 loss in 116 patients. The sY1192-independent deletion accounted for 41.4% (48/116). Eight patterns were found in the deletions associated with sY1192. The rate of sperm detection was similar in the semen of patients with the independent sY1192 deletion and the combined sY1192 deletions (52.1% vs 50.0%). The patients with only sY1192 gene loss had a higher probability of sperm detection than the patients whose sY1192 gene locus existed, but other gene loci were lost (52.1% vs 32.0%). The hormone levels were similar in patients with sY1192 deletion alone and in those with sY1192 deletion and other types of microdeletions in the presence of the sY1192 locus. After multiple intracytoplasmic sperm injection (ICSI) attempts, the pregnancy rate of spouses of men with sY1192-independent deletions was similar to that of other types of microdeletions, but the fertilization and cleavage rates were higher. We observed that eight deletion patterns were observed for sY1192 microdeletions of AZFb/c, dominated by the independent deletion of sY1192. After ICSI, the fertilization rate and cleavage rate of the sY1192-independent microdeletion were higher than those of other Y chromosome microdeletion types, but there was no significant difference in pregnancy outcomes.
Y染色体微缺失是男性不育的重要原因。目前,对Y染色体的研究主要集中在分析无精子症因子a/b/c(AZFa/b/c)基因大片段的缺失,而关于AZF区域单位点缺失对生育力影响的报道较少。本研究分析了116例患者sY1192缺失后精子质量的影响。sY1192独立缺失占41.4%(48/116)。在与sY1192相关的缺失中发现了8种模式。sY1192独立缺失患者精液与合并sY1192缺失患者精液的精子检出率相似(52.1%对50.0%)。仅sY1192基因缺失的患者比sY1192基因位点存在但其他基因位点缺失的患者有更高的精子检出概率(52.1%对32.0%)。仅存在sY1192缺失的患者与存在sY1192位点但同时存在其他类型微缺失的患者的激素水平相似。经过多次卵胞浆内单精子注射(ICSI)尝试后,sY1192独立缺失男性配偶的妊娠率与其他类型微缺失相似,但受精率和卵裂率更高。我们观察到AZFb/c的sY1192微缺失存在8种缺失模式,以sY1192独立缺失为主。ICSI后,sY1192独立微缺失的受精率和卵裂率高于其他Y染色体微缺失类型,但妊娠结局无显著差异。