Y 染色体 AZFc 微缺失的非梗阻性无精子症患者睾丸取精结局：一项大型多中心真实世界队列研究
Sperm Retrieval Outcomes in Men with Y Chromosome AZFc Microdeletion Undergoing Testicular Sperm Extraction: Real-World Data from a Large Multicenter Cohort
摘要
该研究纳入 2019 年 1 月至 2025 年 9 月间 13 家中心共 126 例合并 AZFc 微缺失的非梗阻性无精子症（NOA）男性，评估睾丸取精（SR）的真实世界结局。患者中位年龄 35 岁、睾丸体积 8 mL、FSH 16.6 IU/L；69.1% 接受显微取精（mTESE）。总体取精成功率为 23.8%。组织学以支持细胞唯存综合征（SCOS，61.0%）为主，其次为成熟阻滞（24.4%）与生精低下（14.6%）。取精成功者 FSH 更低、Johnsen 评分更高；成功率随组织学严重程度递减（生精低下 58.3%、成熟阻滞 15.0%、SCOS 14.0%）。多因素分析显示 SCOS 与成熟阻滞是取精成功的独立负性预测因子。结论提示组织学是本组最强预测指标，可支持个体化咨询与手术决策。
原文摘要
PURPOSE: To assess the real-life sperm retrieval (SR) outcome in men with non-obstructive azoospermia (NOA) and Y-chromosome AZFc microdeletions. MATERIALS AND METHODS: Data from 126 men with NOA and AZFc microdeletions who underwent SR procedures in 13 centers between January 2019 and September 2025 were analyzed. All men underwent a comprehensive diagnostic work-up including medical history, physical examination, testicular ultrasound, hormonal and genetic blood testing and semen analysis according to World Health Organization reference criteria. Testicular histology was documented. Either classic testicular sperm extraction or microsurgical TESE (mTESE) were performed. Descriptive statistics and logistic regression analyses were conducted to identify predictors of +SR. RESULTS: Overall, median (interquartile range) age at surgery and median testicular volume were 35 (31-40) years and 8 (6-12) mL, respectively. Median baseline serum follicle stimulating hormone (FSH) and total testosterone were 16.6 (9.1-23.8) IU/L and 4.1 (3.2-5.6) ng/mL, respectively. mTESE was performed in 87 (69.1%) cases. SR was achieved in 30 patients (23.8%). Histological evaluation revealed Sertoli cell-only syndrome (SCOS) in 50 (61.0%), maturation arrest (MA) in 20 (24.4%), and hypospermatogenesis (HS) in 12 (14.6%) men, with a median Johnsen score of 4 (2-8). Median FSH was significantly lower in men with +SR (11.3 vs. 21.2 IU/L, p=0.02), while Johnsen score was significantly higher (7 vs. 2, p<0.001). +SR was inversely associated with severity of testicular histology (58.3% for HS, 15.0% for MA and 14.0% for SCOS, respectively; p<0.001). Multivariate logistic regression analysis showed that SCOS (0.1, p=0.01) and MA (0.1, p=0.02) histologies were associated with lower likelihood of +SR, after accounting for FSH values. CONCLUSIONS: SR rate in this cohort was 23.8%, with testicular histology being the strongest independent predictor of success. These findings support evidence-based counseling, individualized prognostication, and informed surgical planning in this population.
推荐理由：13 中心、126 例的 AZFc 微缺失 NOA 取精真实世界数据较为稀缺，明确了总体成功率约 24% 及组织学为最强独立预测因子，可直接用于术前咨询与 mTESE 决策；但为回顾性设计、无对照干预，机制层面新意有限。
文献解读
尚未生成。该条目分数达到自动解读阈值，下次流水线运行时会自动生成；