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Abstract：
BACKGROUND: Male infertility has become a global health problem, and genetic factors are one of the essential causes. Y chromosome microdeletion is the leading genetic factor cause of male infertility. The objective of this study is to investigate the correlation between male infertility and Y chromosome microdeletions in Hainan, the sole tropical island province of China.
METHODS: We analyzed the semen of 897 infertile men from Hainan in this study. Semen analysis was measured according to WHO criteria by professionals at the Department of Reproductive Medicine, the First Affiliated Hospital of Hainan Medical University, where samples were collected. Y chromosome AZF microdeletions were confirmed by detecting six STS markers using multiple polymerase chain reactions on peripheral blood DNA. The levels of reproductive hormones, including FSH, LH, PRL, T, and E2, were quantified using the enzyme-linked immunosorbent assay (ELISA).
RESULTS: The incidence of Y chromosome microdeletion in Hainan infertile men was 7.13%. The occurrence rate of Y chromosome microdeletion was 6.69% (34/508) in the oligozoospermia group and 7.71% (30/389) in the azoospermia group. The deletion of various types in the AZF subregion was observed in the group with azoospermia, whereas no AZFb deletion was detected in the oligozoospermia group. Among all patients with microdeletions, the deletion rate of the AZFc region was the higher at 68.75% (44 out of 64), followed by a deletion rate of 6.25% (4 out of 64) for the AZFa region and a deletion rate of 4.69% (3 out of 64) for the AZFb region. The deletion rate of the AZFa region was significantly higher in patients with azoospermia than in patients with oligozoospermia (0.51% vs. 0.39%, p < 0.001). In comparison, the deletion rate of the AZFc region was significantly higher in patients with oligozoospermia (3.08% vs. 6.30%, p < 0.001). Additionally, the AZFb + c subregion association deletion was observed in the highest proportion among all patients (0.89%, 8/897), followed by AZFa + b + c deletion (0.56%, 5/897), and exclusively occurred in patients with azoospermia. Hormone analysis revealed FSH (21.63 ± 2.01 U/L vs. 10.15 ± 0.96 U/L, p = 0.001), LH (8.96 ± 0.90 U/L vs. 4.58 ± 0.42 U/L, p < 0.001) and PRL (263.45 ± 21.84 mIU/L vs. 170.76 ± 17.10 mIU/L, p = 0.002) were significantly increased in azoospermia patients with microdeletions. Still, P and E2 levels were not significantly different between the two groups.
CONCLUSIONS: The incidence of AZF microdeletion can reach 7.13% in infertile men in Hainan province, and the deletion of the AZFc subregion is the highest. Although the Y chromosome microdeletion rate is distinct in different regions or populations, the regions mentioned above of the Y chromosome may serve an indispensable role in regulating spermatogenesis. The analysis of Y chromosome microdeletion plays a crucial role in the clinical assessment and diagnosis of male infertility.
METHODS: We analyzed the semen of 897 infertile men from Hainan in this study. Semen analysis was measured according to WHO criteria by professionals at the Department of Reproductive Medicine, the First Affiliated Hospital of Hainan Medical University, where samples were collected. Y chromosome AZF microdeletions were confirmed by detecting six STS markers using multiple polymerase chain reactions on peripheral blood DNA. The levels of reproductive hormones, including FSH, LH, PRL, T, and E2, were quantified using the enzyme-linked immunosorbent assay (ELISA).
RESULTS: The incidence of Y chromosome microdeletion in Hainan infertile men was 7.13%. The occurrence rate of Y chromosome microdeletion was 6.69% (34/508) in the oligozoospermia group and 7.71% (30/389) in the azoospermia group. The deletion of various types in the AZF subregion was observed in the group with azoospermia, whereas no AZFb deletion was detected in the oligozoospermia group. Among all patients with microdeletions, the deletion rate of the AZFc region was the higher at 68.75% (44 out of 64), followed by a deletion rate of 6.25% (4 out of 64) for the AZFa region and a deletion rate of 4.69% (3 out of 64) for the AZFb region. The deletion rate of the AZFa region was significantly higher in patients with azoospermia than in patients with oligozoospermia (0.51% vs. 0.39%, p < 0.001). In comparison, the deletion rate of the AZFc region was significantly higher in patients with oligozoospermia (3.08% vs. 6.30%, p < 0.001). Additionally, the AZFb + c subregion association deletion was observed in the highest proportion among all patients (0.89%, 8/897), followed by AZFa + b + c deletion (0.56%, 5/897), and exclusively occurred in patients with azoospermia. Hormone analysis revealed FSH (21.63 ± 2.01 U/L vs. 10.15 ± 0.96 U/L, p = 0.001), LH (8.96 ± 0.90 U/L vs. 4.58 ± 0.42 U/L, p < 0.001) and PRL (263.45 ± 21.84 mIU/L vs. 170.76 ± 17.10 mIU/L, p = 0.002) were significantly increased in azoospermia patients with microdeletions. Still, P and E2 levels were not significantly different between the two groups.
CONCLUSIONS: The incidence of AZF microdeletion can reach 7.13% in infertile men in Hainan province, and the deletion of the AZFc subregion is the highest. Although the Y chromosome microdeletion rate is distinct in different regions or populations, the regions mentioned above of the Y chromosome may serve an indispensable role in regulating spermatogenesis. The analysis of Y chromosome microdeletion plays a crucial role in the clinical assessment and diagnosis of male infertility.
摘要：
背景：男性不育已成为全球性的健康问题，遗传因素是其中一个重要原因。Y染色体微缺失是导致男性不育的主要遗传因素。本研究的目的是探讨海南男性不育与Y染色体微缺失的相关性。中国唯一的热带岛屿省。
方法：本研究对海南897名不育男性进行精液分析。根据世界卫生组织标准，生殖医学部的专业人员对精液分析进行了测量，海南医科大学第一附属医院,在那里收集样本。通过在外周血DNA上进行多重聚合酶链反应检测六个STS标记，证实了Y染色体AZF微缺失。生殖激素的水平，包括FSH,LH,PRL,T,和E2，使用酶联免疫吸附测定（ELISA）进行定量。
结果：海南不育男性Y染色体微缺失发生率为7.13%。少精子症组Y染色体微缺失发生率为6.69%(34/508),无精子症组Y染色体微缺失发生率为7.71%(30/389)。在无精子症组中观察到AZF亚区各种类型的缺失，而在少精子症组没有检测到AZFb缺失。在所有微缺失患者中，AZFc区的缺失率为68.75%(64个中的44个)，其次是AZFa区的缺失率为6.25%(64个中的4个),AZFb区的缺失率为4.69%(64个中的3个)。无精子症患者的AZFa区域缺失率明显高于少精子症患者(0.51%vs.0.39%，p<0.001)。相比之下,在少精子症患者中，AZFc区的缺失率明显更高(3.08%vs.6.30%,p<0.001)。此外,在所有患者中，AZFb+c次区域关联缺失的比例最高(0.89%，8/897），其次是AZFa+b+c缺失(0.56%，5/897），并且仅发生在无精子症患者中。激素分析显示FSH（21.63±2.01U/Lvs.10.15±0.96U/L,p=0.001),LH(8.96±0.90U/Lvs.4.58±0.42U/L,p<0.001）和PRL（263.45±21.84mIU/Lvs.170.76±17.10mIU/L，p=0.002）在无精子症患者中微缺失显着增加。尽管如此，P、E2水平两组间差异无统计学意义。
结论：海南省男性不育患者AZF微缺失发生率可达7.13%，AZFc亚区的缺失最高。虽然Y染色体微缺失率在不同的区域或群体中是不同的,Y染色体的上述区域可能在调节精子发生中起着不可或缺的作用。Y染色体微缺失分析在男性不育的临床评估和诊断中起着至关重要的作用。
方法：本研究对海南897名不育男性进行精液分析。根据世界卫生组织标准，生殖医学部的专业人员对精液分析进行了测量，海南医科大学第一附属医院,在那里收集样本。通过在外周血DNA上进行多重聚合酶链反应检测六个STS标记，证实了Y染色体AZF微缺失。生殖激素的水平，包括FSH,LH,PRL,T,和E2，使用酶联免疫吸附测定（ELISA）进行定量。
结果：海南不育男性Y染色体微缺失发生率为7.13%。少精子症组Y染色体微缺失发生率为6.69%(34/508),无精子症组Y染色体微缺失发生率为7.71%(30/389)。在无精子症组中观察到AZF亚区各种类型的缺失，而在少精子症组没有检测到AZFb缺失。在所有微缺失患者中，AZFc区的缺失率为68.75%(64个中的44个)，其次是AZFa区的缺失率为6.25%(64个中的4个),AZFb区的缺失率为4.69%(64个中的3个)。无精子症患者的AZFa区域缺失率明显高于少精子症患者(0.51%vs.0.39%，p<0.001)。相比之下,在少精子症患者中，AZFc区的缺失率明显更高(3.08%vs.6.30%,p<0.001)。此外,在所有患者中，AZFb+c次区域关联缺失的比例最高(0.89%，8/897），其次是AZFa+b+c缺失(0.56%，5/897），并且仅发生在无精子症患者中。激素分析显示FSH（21.63±2.01U/Lvs.10.15±0.96U/L,p=0.001),LH(8.96±0.90U/Lvs.4.58±0.42U/L,p<0.001）和PRL（263.45±21.84mIU/Lvs.170.76±17.10mIU/L，p=0.002）在无精子症患者中微缺失显着增加。尽管如此，P、E2水平两组间差异无统计学意义。
结论：海南省男性不育患者AZF微缺失发生率可达7.13%，AZFc亚区的缺失最高。虽然Y染色体微缺失率在不同的区域或群体中是不同的,Y染色体的上述区域可能在调节精子发生中起着不可或缺的作用。Y染色体微缺失分析在男性不育的临床评估和诊断中起着至关重要的作用。
