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Abstract：
BACKGROUND: Recent studies have linked recurrent pregnancy loss (RPL) to abnormalities in the sperm genome, specifically microdeletions in the azoospermia factor (AZF) region. This study investigated the potential association between Y chromosome microdeletions in the AZF region and RPL in Iranian couples.
METHODS: The research presents a case-control study of 240 men: 120 whose partners experienced recurrent miscarriage, and 120 who had successful pregnancies without history of miscarriage. The study used semen parameters, hormone analyses, and microdeletion analysis via multiplex PCR and the YChromStrip kit. Thus, the sequence-tagged site (STS) markers of AZFa (sY84, sY86), AZFb (sY127, sY134), and AZFc (sY254, sY255) regions were examined.
RESULTS: The variations in semen parameters and sex hormone levels between cases and controls are suggest impaired testicular function in men whose partners had recurrent miscarriages (p < 0.05). Furthermore, the study revealed a negative correlation between sperm count and follicle-stimulating hormone (FSH) level, and a positive one between sperm motility and testosterone concentration. There were no microdeletions in the control group, while the RPL group showed 20 deletions in AZFb (sY134) (16.66%) and 10 deletions each in AZFb (sY127) (8.33%) and AZFc (sY254) (8.33%).
CONCLUSIONS: Microdeletions in sY134 (AZFb) were significantly associated with RPL in Iranian men (p = 0.03). AZF microdeletion screening in couples with RPL can provide valuable information for ethnical genetic counseling and management of recurrent miscarriage. Further studies on larger populations or across various ethnic groups, conclusions and the inclusion of other factors like epigenetic changes explain the role of AZF microdeletions in RPL.
METHODS: The research presents a case-control study of 240 men: 120 whose partners experienced recurrent miscarriage, and 120 who had successful pregnancies without history of miscarriage. The study used semen parameters, hormone analyses, and microdeletion analysis via multiplex PCR and the YChromStrip kit. Thus, the sequence-tagged site (STS) markers of AZFa (sY84, sY86), AZFb (sY127, sY134), and AZFc (sY254, sY255) regions were examined.
RESULTS: The variations in semen parameters and sex hormone levels between cases and controls are suggest impaired testicular function in men whose partners had recurrent miscarriages (p < 0.05). Furthermore, the study revealed a negative correlation between sperm count and follicle-stimulating hormone (FSH) level, and a positive one between sperm motility and testosterone concentration. There were no microdeletions in the control group, while the RPL group showed 20 deletions in AZFb (sY134) (16.66%) and 10 deletions each in AZFb (sY127) (8.33%) and AZFc (sY254) (8.33%).
CONCLUSIONS: Microdeletions in sY134 (AZFb) were significantly associated with RPL in Iranian men (p = 0.03). AZF microdeletion screening in couples with RPL can provide valuable information for ethnical genetic counseling and management of recurrent miscarriage. Further studies on larger populations or across various ethnic groups, conclusions and the inclusion of other factors like epigenetic changes explain the role of AZF microdeletions in RPL.
摘要：
背景：最近的研究将复发性妊娠丢失（RPL）与精子基因组异常联系起来，特别是在无精子症因子（AZF）区域的微缺失。这项研究调查了伊朗夫妇中AZF区域Y染色体微缺失与RPL之间的潜在关联。
方法：该研究对240名男性进行了病例对照研究：120名男性的伴侣经历了复发性流产，和120名没有流产史的成功怀孕者。这项研究使用了精液参数，激素分析,并通过多重PCR和YChromStrip试剂盒进行微缺失分析。因此，AZFa的序列标记位点（STS）标记（sY84，sY86），AZFb(sY127,sY134),和AZFc(sY254,sY255)区域被检查。
结果：病例和对照组之间精液参数和性激素水平的变化表明，伴侣反复流产的男性睾丸功能受损（p<0.05）。此外，研究显示精子数量与卵泡刺激素(FSH)水平呈负相关,精子活力和睾酮浓度呈阳性。对照组没有微缺失，而RPL组AZFb（sY134）缺失20例（16.66％），AZFb（sY127）（8.33％）和AZFc（sY254）（8.33％）各10例。
结论：sY134(AZFb)微缺失与伊朗男性RPL显著相关(p=0.03)。RPL夫妇的AZF微缺失筛查可以为种族遗传咨询和复发性流产的管理提供有价值的信息。对更多人口或不同种族群体的进一步研究，结论和其他因素如表观遗传变化解释了AZF微缺失在RPL中的作用。
方法：该研究对240名男性进行了病例对照研究：120名男性的伴侣经历了复发性流产，和120名没有流产史的成功怀孕者。这项研究使用了精液参数，激素分析,并通过多重PCR和YChromStrip试剂盒进行微缺失分析。因此，AZFa的序列标记位点（STS）标记（sY84，sY86），AZFb(sY127,sY134),和AZFc(sY254,sY255)区域被检查。
结果：病例和对照组之间精液参数和性激素水平的变化表明，伴侣反复流产的男性睾丸功能受损（p<0.05）。此外，研究显示精子数量与卵泡刺激素(FSH)水平呈负相关,精子活力和睾酮浓度呈阳性。对照组没有微缺失，而RPL组AZFb（sY134）缺失20例（16.66％），AZFb（sY127）（8.33％）和AZFc（sY254）（8.33％）各10例。
结论：sY134(AZFb)微缺失与伊朗男性RPL显著相关(p=0.03)。RPL夫妇的AZF微缺失筛查可以为种族遗传咨询和复发性流产的管理提供有价值的信息。对更多人口或不同种族群体的进一步研究，结论和其他因素如表观遗传变化解释了AZF微缺失在RPL中的作用。
