Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830011 Xinjiang, China.
Cell Mol Biol (Noisy-le-grand). 2023 Dec 10;69(13):106-111. doi: 10.14715/cmb/2023.69.13.17.
This study aimed to analyze the correlation between the microdeletion of different regions of the azoospermia factor (AZF) gene and semen parameters, sex hormone levels, and karyotypes in infertile males by retrospective study. This was performed to obtain a comprehensive understanding of the clinical data of AZF microdeletion in infertile males, to guide clinical diagnoses and treatments, and to improve the efficacy and safety of assisted reproductive technology. For this purpose, Fifty-seven patients with AZF microdeletions and complete data were selected from 1916 patients with AZF microdeletions in our hospital from January 2020 to August 2022. The correlation between semen parameters, sex hormone levels, and chromosome karyotypes of these 57 patients was analyzed. Results showed that among the 57 patients with AZF microdeletions, the region with the highest microdeletion rate was AZFc with 57.89%; single or combined deletions in AZFa and AZFb regions resulted in azoospermia. The deletion frequency of AZFc in the oligospermia group was significantly higher than that in the azoospermia group, and the deletion frequencies of AZFb and AZFb + c in the azoospermia group were significantly higher than those in the oligospermia group (P<0.05). There were statistically significant differences in follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, and chromosome karyotypes between patients with azoospermia and oligospermia (P<0.05). Statistically significant differences were observed in prolactin (PRL), FSH, testosterone (T), LH levels, and chromosome karyotypes of patients in different AZF microdeletion regions (P<0.05). In conclusion, AZF microdeletions can lead to a decline in semen quality in men, and different types of deletions have different effects on semen parameters, sex hormone levels, and karyotype analysis. Further treatments should be selected based on the AZF microdeletion area.
本研究旨在通过回顾性研究分析不同区域的无精子因子（AZF）基因微缺失与不育男性精液参数、性激素水平和染色体核型的相关性。旨在全面了解不育男性 AZF 微缺失的临床资料，指导临床诊断和治疗，提高辅助生殖技术的疗效和安全性。为此，选取 2020 年 1 月至 2022 年 8 月我院 1916 例 AZF 微缺失患者中 57 例 AZF 微缺失且资料完整的患者，分析其精液参数、性激素水平和染色体核型的相关性。结果显示，57 例 AZF 微缺失患者中，微缺失率最高的区域为 AZFc，占 57.89%；AZFa 和 AZFb 区域的单个或联合缺失导致无精子症。少精子症组 AZFc 缺失频率明显高于无精子症组，AZFb 和 AZFb+c 缺失频率明显高于少精子症组（P<0.05）。无精子症和少精子症患者的卵泡刺激素（FSH）和黄体生成素（LH）水平及染色体核型差异有统计学意义（P<0.05）。不同 AZF 微缺失区域患者的催乳素（PRL）、FSH、睾酮（T）、LH 水平及染色体核型差异有统计学意义（P<0.05）。结论，AZF 微缺失可导致男性精液质量下降，不同类型的缺失对精液参数、性激素水平和染色体核型分析的影响不同，应根据 AZF 微缺失区域选择进一步的治疗方案。
