Infertility is one of the major health-threatening problems in communities which may lead to psychological problems among couples. Y chromosome abnormalities and microdeletions have recently been considered as one of the male infertility factors. The aim of this study was to evaluate different chromosomal disorders and azoospermia factor b (AZFb), AZFc and AZFd microdeletions in idiopathic non-obstructive oligo or azoospermia infertile men. One hundred infertile (78 azoospermia and 22 oligospermia) and 100 fertile men were included in this study. Luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels were evaluated by electrochemiluminescence. Karyotyping was performed according to standard methods and interpreted using the International System for Human Cytogenetic Nomenclature (ISHCN) recommendation. For Y chromosome microdeletion analysis, a multiplex polymerase chain reaction (PCR) was performed using STS primers. Higher FSH (24.32 ± 15.32 versus 8.02 ± 3.37, p < 0.0001) and LH (14.97 ± 8.26 versus 5.42 ± 2.73, p < 0.0001) were observed in infertile patients compared to their fertile counterpart. Additionally, 14% of infertile patients exhibited abnormal karyotype. The frequency of Y chromosome microdeletions in azoospermic and oligospermic patients was 32.05% (25/78) and 0% (0/22), respectively. Additionally, in azoospermic patients, the highest microdeletion frequency was related to the AZFc region (80%). Our data indicate the presence of chromosomal changes in the most infertile men, suggesting karyotype and molecular analysis of Y chromosome microdeletions for genetic counseling before assisted reproduction.Abbreviations: ART: assisted reproductive technology; AZF: azoospermia factor; DAZ: deleted in azoospermia; FCS: fetal calf serum; FSH: follicle stimulating hormone; LH: luteinizing hormone; PCR: polymerase chain reaction; SRY: sex-determining region Y; STS: sequence-tagged sites.

中文翻译：

---

伊朗阿塞拜疆土耳其不育男性的染色体核型异常和Y染色体微缺失的分子分析。

不孕症是社区中威胁健康的主要问题之一，可能导致夫妻之间出现心理问题。Y染色体异常和微缺失最近被认为是男性不育因素之一。这项研究的目的是评估特发性非阻塞性少尿或无精子症不育男性中的不同染色体疾病和无精子因子b（AZFb），AZFc和AZFd微缺失。这项研究包括一百个不育（78个无精子症和22个少精子症）和100个可育男人。通过电化学发光评估了促黄体生成素（LH）和促卵泡激素（FSH）的水平。根据标准方法进行核型分析，并使用国际人类细胞遗传命名系统（ISHCN）推荐进行解释。对于Y染色体微缺失分析，使用STS引物进行多重聚合酶链反应（PCR）。与可育患者相比，在不育患者中观察到较高的FSH（24.32±15.32对8.02±3.37，p <0.0001）和LH（14.97±8.26对5.42±2.73，p <0.0001）。此外，14％的不育患者表现出异常的核型。无精症和少精子症患者的Y染色体微缺失频率分别为32.05％（25/78）和0％（0/22）。此外，在无精子症患者中，最高的微缺失频率与AZFc区有关（80％）。我们的数据表明在大多数不育男性中存在染色体变化，这提示在辅助生殖之前，Y染色体微缺失的核型和分子分析可用于遗传咨询。辅助生殖技术；AZF：无精症因子；DAZ：在无精症中删除；FCS：胎牛血清；FSH：促卵泡激素；LH：促黄体激素；PCR：聚合酶链反应；SRY：决定性别的区域Y；STS：序列标记的位点。