Abstract：
OBJECTIVE: To determine the frequency and characteristics of AZF microdeletions of Y chromosome and karyotypic abnormalities among infertile male patients from southwest China.
METHODS: 4 278 infertile male patients treated at West China Second University Hospital of Sichuan University from September 2018 to July 2023 were selected as the study subjects. Results of Y chromosome microdeletion detection and G-banded karyotyping analysis were retrospectively reviewed.
RESULTS: Clinical data of the patients were collected, which have included 2 048 patients with azoospermia, 1 536 patients with oligozoospermia, 310 patients with mild to moderate oligozoospermia, and 384 patients with infertility but normal sperm concentration. An abnormal karyotype was found in 213 (8.80%) of 2 421 patients who had undergone karyotyping analysis. The frequency of Y chromosome microdeletions was 9.86% (422/4 278), which had occurred in 10.4%, 13.28%, 0.97% and 0.52% of the cases with azoospermia, severe oligozoospermia, mild to moderate oligozoospermia, and infertility with normal sperm concentration, respectively.
CONCLUSIONS: Y chromosome microdeletion detection and karyotyping analysis are crucial for assessing the cause of male infertility. Early diagnosis can facilitate the selection of reproductive methods.
METHODS: 4 278 infertile male patients treated at West China Second University Hospital of Sichuan University from September 2018 to July 2023 were selected as the study subjects. Results of Y chromosome microdeletion detection and G-banded karyotyping analysis were retrospectively reviewed.
RESULTS: Clinical data of the patients were collected, which have included 2 048 patients with azoospermia, 1 536 patients with oligozoospermia, 310 patients with mild to moderate oligozoospermia, and 384 patients with infertility but normal sperm concentration. An abnormal karyotype was found in 213 (8.80%) of 2 421 patients who had undergone karyotyping analysis. The frequency of Y chromosome microdeletions was 9.86% (422/4 278), which had occurred in 10.4%, 13.28%, 0.97% and 0.52% of the cases with azoospermia, severe oligozoospermia, mild to moderate oligozoospermia, and infertility with normal sperm concentration, respectively.
CONCLUSIONS: Y chromosome microdeletion detection and karyotyping analysis are crucial for assessing the cause of male infertility. Early diagnosis can facilitate the selection of reproductive methods.
摘要：
目的：了解中国西南地区男性不育患者Y染色体AZF微缺失和核型异常的频率和特征。
方法：选取2018年9月至2023年7月四川大学华西第二医院收治的4278例男性不育患者作为研究对象。回顾了Y染色体微缺失检测和G带核型分析的结果。
结果：收集患者的临床资料，其中包括2048例无精子症患者，1536例少精子症,310例轻度至中度少精子症，和384名不育但精子浓度正常的患者。在2421例接受核型分析的患者中，有213例（8.80％）发现核型异常。Y染色体微缺失的发生率为9.86%(422/4278),发生在10.4%，13.28%，无精子症的病例分别为0.97%和0.52%,严重的少精子症,轻度至中度少精子症，和精子浓度正常的不育，分别。
结论：Y染色体微缺失检测和核型分析对于评估男性不育的原因至关重要。早期诊断可以促进生殖方法的选择。
方法：选取2018年9月至2023年7月四川大学华西第二医院收治的4278例男性不育患者作为研究对象。回顾了Y染色体微缺失检测和G带核型分析的结果。
结果：收集患者的临床资料，其中包括2048例无精子症患者，1536例少精子症,310例轻度至中度少精子症，和384名不育但精子浓度正常的患者。在2421例接受核型分析的患者中，有213例（8.80％）发现核型异常。Y染色体微缺失的发生率为9.86%(422/4278),发生在10.4%，13.28%，无精子症的病例分别为0.97%和0.52%,严重的少精子症,轻度至中度少精子症，和精子浓度正常的不育，分别。
结论：Y染色体微缺失检测和核型分析对于评估男性不育的原因至关重要。早期诊断可以促进生殖方法的选择。
