Infertilidad masculina

受孕爸爸男性
  • 文章类型: Journal Article
    背景:不孕症是人类生殖中的重要现象之一。遗传因素是男性不育的最重要原因。这里,我们旨在调查伊朗-阿塞拜疆人群中特发性男性不育与LHCGR(rs2293275)和NR5A1(rs1057517779)基因SNP之间的相关性。
    方法:本病例对照研究包括100名男性不育症患者和100名来自伊朗阿泽里人的健康男性。从全血样品中分离基因组DNA和四引物扩增难治性突变系统聚合酶链反应(Tetra-ARMS-PCR)方法用于基因分型。数据分析采用卡方(χ2)和Fisher精确检验。
    结果:对LHCGR(rs2293275)多态性的基因分型分析表明,病例组中C的频率明显高于对照组(p<0.05)。此外,NR5A1(rs1057517779)多态性的基因分型分析表明,病例组中A等位基因和杂合子GA基因型的频率显着高于对照组(p<0.05)。
    结论:我们的研究表明,LHCGR(rs2293275)和NR5A1(rs1057517779)基因的SNP可能在伊朗阿塞拜疆人群的男性不育中起关键作用。然而,对其他具有较大样本量的种族起源的进一步研究对于获得更准确的结果至关重要。此外,可能需要功能性实验来了解这些多态性在男性生育力分子途径中的作用.
    BACKGROUND: Infertility is one of the important phenomena in human reproduction. Genetic factors are the most important cause of male infertility. Here, we aimed to investigate the correlation between idiopathic male infertility and SNPs of the LHCGR (rs2293275) and NR5A1 (rs1057517779) genes in the Iranian-Azeri population.
    METHODS: This case-control study consisted of 100 males with infertility and 100 healthy males from the Iranian Azeri population. Genomic DNA isolation from whole blood samples and Tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR) method was used for genotyping. The data analysis was performed by chi-square (χ2) and Fisher\'s exact tests.
    RESULTS: Genotyping analysis for LHCGR (rs2293275) polymorphism indicated that the frequency of C in the case group was significantly higher than in the control group (P < .05). Moreover, genotyping analysis for NR5A1 (rs1057517779) polymorphism indicated that the frequencies of the A allele and heterozygote GA genotype in the case group were significantly higher than those in the control group (P < .05).
    CONCLUSIONS: Our study demonstrated that the SNPs of LHCGR (rs2293275) and NR5A1 (rs1057517779) genes may play a critical role in male infertility in the Iranian Azeri population. However, further studies on other ethnic origins with larger sample sizes are essential for accessing more accurate results. Moreover, functional experiments might be needed to understand the role of these polymorphisms in the molecular pathways involved in male fertility.
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  • 文章类型: Systematic Review
    目的:本系统综述旨在评估由合成代谢雄激素类固醇(AAS)滥用引起的男性不育症的最佳治疗方法。
    方法:根据系统评价和荟萃分析(PRISMA)声明的首选报告项目进行系统评价。包括比较使用AAS后患者精子发生恢复的不同方案的研究。
    结果:13项研究调查了AAS滥用患者恢复精子发生的不同方案,符合纳入标准。显示精子发生恢复的可用药物包括可注射的促性腺激素,选择性雌激素受体调节剂,和芳香化酶抑制剂,但它们的使用在文献中描述仍然很少。
    结论:临床医生需要了解AAS对精子发生的有害影响。AAS相关的不孕症可能是可逆的,但是精子生产可能需要一年以上才能恢复正常。保守和积极的治疗都可以促进精子发生,并取得积极的结果。有必要进一步了解男性生殖内分泌学和AAS滥用后精子发生恢复领域的高质量数据。
    OBJECTIVE: This systematic review aims to evaluate the optimal treatment for male infertility resulting from Anabolic Androgenic Steroids (AAS) abuse.
    METHODS: A systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Studies that compared different protocols for the recovery of spermatogenesis in patients after AAS use were included.
    RESULTS: 13 studies investigating different protocols to restore spermatogenesis in patients with AAS abuse met the inclusion criteria. The available agents that showed restoration of spermatogenesis include injectable gonadotropins, selective estrogen receptor modulators, and aromatase inhibitors, but their use is still poorly described in the literature.
    CONCLUSIONS: Clinicians need to be aware of the detrimental effects of AAS on spermatogenesis. AAS-associated infertility may be reversible, but sperm production may take over a year to normalize. Both conservative and aggressive treatment can boost spermatogenesis with positive results. Further understanding of male reproductive endocrinology and high-quality data on the field of restoration of spermatogenesis after AAS abuse are warranted.
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  • 文章类型: Journal Article
    Y染色体无精子症因子(AZF)区域(YCMs)中微缺失的存在被认为是男性不育和Klinefelter综合征的最常见遗传原因。这项研究的目的是调查阿拉贡不育男性的YCMs频率和类型,并分析性激素之间的关系。精子计数和微缺失。
    使用YChromStrip对2006-2019年期间的644名男性进行了YCM筛查的回顾性描述性研究(Operón,西班牙)通过PCR+反向杂交,精子图,核型和性激素的定量。
    YCM的频率为3.88%(25/644),在任何患有轻度或正常精子症少精子症的患者中均未检测到,也就是说,精子计数高于5×106/mL。无精子症患者组出现YCM的频率较高(14.58%,14/96)。AZFc区中的缺失是最常见的(68%)。20%(5/25)的YCM患者也出现了一些类型的核型异常,包括非整倍体,删除,重复和/或易位。YCMs组患者的精子计数明显降低,FSH和LH浓度明显升高。
    YCMs筛查是男性不育诊断方法的关键测试。获得适当的结果允许选择合适的辅助生殖技术,防止不必要的治疗和遗传缺陷传播给后代。
    The presence of microdeletions in the Y-chromosome azoospermia factor (AZF) region (YCMs) is considered the most frequent genetic cause of male infertility along with Klinefelter syndrome. The objective of this study was to investigate the frequencies and type of YCMs in infertile men in Aragon and to analyze the relationship between sex hormones, sperm count and microdeletions in them.
    Retrospective descriptive study of 644 men who during 2006-2019 were screened for YCMs using YChromStrip (Operón, Spain) by PCR+reverse hybridization, spermiogram, karyotype and quantification of sex hormones.
    The frequency of YCMs was 3.88% (25/644), not being detected in any patient with mild or normospermic oligozoospermia, that is, in sperm counts higher than 5×106/mL. The group of azoospermic patients was the one that presented a higher frequency of YCMs (14.58%, 14/96). Deletions in the AZFc region were the most frequent (68%). 20% (5/25) of patients with YCMs also presented some type of karyotype abnormality that included aneuploidies, deletions, duplications and/or translocations. Sperm count was significantly lower and FSH and LH concentrations significantly higher in the group of patients with YCMs.
    YCMs screening is a key test in the diagnostic approach to male infertility. Obtaining an adequate result allows choosing suitable assisted reproduction techniques, preventing unnecessary treatments and the transmission of genetic defects to offspring.
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  • 文章类型: Journal Article
    由于性活跃的女性和男性的患病率很高,因此沙眼衣原体被认为是公共卫生问题。墨西哥男性生殖器衣原体基因型的分布未知。
    评估以不育女性为性伴侣的男性中衣原体基因型的患病率。
    共收集了659份男性尿液样本,其性伴侣为不育女性;通过实时核酸扩增测试(qPCR)鉴定衣原体感染。OmpA基因PCR-RFLP和测序用于确认沙眼衣原体的基因型。基因型与年龄的关联,进一步分析了性伴侣的精子参数和妇科数据。
    49例尿样呈阳性感染(7.4%)。衣原体感染与畸形精子症显著相关,无精子症,精子症,和少精子症。正确鉴定了五种基因型(F51%;D为12.2%;E为12.2%;L2为6.1%和Ia为4.1%)。在这项比较研究中鉴定出的基因型均与某些精子值的变化呈正相关,因为所有这些基因型通常都会对这些细胞产生相当大的损害。
    F基因型是墨西哥城不育男性中最常见的基因型,所有基因型在女性伴侣不育的墨西哥男性的开创性改变中起着重要作用。
    Chlamydia trachomatis is considered a public health problem due to the high prevalence in sexually active women and men. The distribution of genital Chlamydia genotypes among Mexican men is unknown.
    To assess the prevalence of Chlamydia genotypes in men with infertile women as sexual partners.
    A total of 659 urine samples were collected from men whose sexual partners were infertile women; the identifying Chlamydia infection was by means of a real-time nucleic acid amplification test (qPCR). OmpA gene PCR-RFLP and sequencing were used to confirm the genotypes of C. trachomatis. The association of genotypes with age, spermatic parameters and gynecological data of sexual partners was further analyzed.
    Forty-nine urine samples were positive infection (7.4%). The Chlamydia infection was significantly associated with teratozoospermia, azoospermia, hypospermia, and oligozoospermia. Five genotypes (F 51%; 12.2% to D; 12.2% to E; 6.1% to L2 and 4.1% Ia) were correctly identified. None genotypes identified in this comparative study were positively associated with changes in some of the spermatic values because all of them typically produce some considerable damage to these cells.
    The F genotype was the most frequent genotype identified in infertile men from Mexico City and all genotypes play an important role in the seminal alteration of Mexican men whose female partners are infertile.
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  • 文章类型: Journal Article
    OBJECTIVE: Analysis of male infertility by molecular methods has increased since recognition of genetic risk factors. The AZFa, AZFb, AZFc, and gr/gr regions on the Y-chromosome can cause male infertility. The aim of this study was to determine the prevalence of Y-chromosome microdeletions in these regions in infertile Mexican patients.
    METHODS: We recruited 57 infertile patients with abnormal sperm count (26 azoospermic and 31 oligozoospermic) and 55 individuals with normal sperm count. Analysis of the regions of interest was performed by PCR.
    RESULTS: 15.8% of infertile patients presented Y-chromosome microdeletions, whereas no deletions were found in the control group. Deletions were observed in all the analyzed regions except in AZFa. Additionally, the neural network model revealed a mild genotype-phenotype correlation between deletion of the sY1191, sY1291 and sY254 markers with oligozoospermia, azoospermia and cryptozoospermia, respectively.
    CONCLUSIONS: Our data show that AZFb, AZFc, and gr/gr microdeletions are significantly associated with infertility in Mexican population. In addition, the neural network model revealed a discrete genotype-phenotype correlation between specific deletions and a particular abnormality. Our results reinforce the importance of the analysis of AZF regions as part of the clinical approach of infertile men.
    OBJECTIVE: La utilización de técnicas moleculares para estudiar la infertilidad masculina se ha incrementado desde el reconocimiento de factores genéticos. Las regiones AZFa, AZFb, AZFc, y gr/gr del cromosoma Y son causa de infertilidad masculina. El objetvo de este estudio fue determinar la prevalencia de microdeleciones en estas regiones en pacientes infértiles Mexicanos.
    UNASSIGNED: Reclutamos 57 pacientes infértiles con cuentas espermáticas anormales (26 con azoospermia y 31 con oligozoospermia) y 55 individuos con cuentas espermáticas normales. El análisis de las regiones se realizó mediante PCR.
    RESULTS: 15.8% de los pacientes infértiles presentó microdeleciones, no se encontraron microdeleciones en el grupo control. Las microdeleciones fueron observadas en todas las regiones excepto en AZFa. Adicionalmente, el modelo de red neuronal reveló una leve correlación genotipo-fenotipo entre microdeleciones de los marcadores sY1191, Sy1291 y sY254 con oligozoospermia, azoospermia y criptozoospermia, respectivamente.
    CONCLUSIONS: Nuestros datos muestran que las microdeleciones en AZFb, AZFc, y gr/gr se asocian significativamente con infertilidad en la población Mexicana. Además, el modelo de red neuronal reveló una discreta correlación genotipo-genotipo entre microdeleciones específicas con una anormalidad en particular. Nuestros resultados refuerzan la importancia del análisis de las regiones AZF en el abordaje de la infertilidad masculina.
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  • 文章类型: Journal Article
    研究放大镜辅助下腹股沟下精索静脉曲张切除术对精液质量的影响。血清睾酮水平,和自发妊娠率。
    前瞻性收集102例临床精索静脉曲张不育男性患者的数据。将精液分析参数和血清睾酮水平的术前值与术后6个月的值进行比较。在6个月时评估自发性妊娠。
    患者的平均年龄为31.56±4.31岁。原发性不孕症报告有86例,而16人有继发性不孕症。在79例患者中发现了双侧精索静脉曲张,而23例患有单侧精索静脉曲张。精索静脉曲张手术前后精子总浓度(×106/mL)分别为12.82±3.91和20.06±2.13(P<0.0001)。精索静脉曲张手术前后精子总活动力(%)分别为37.67±7.23和55.46±4.51(P<0.0001)。精子形态(克鲁格/严格的形态学标准,%)精索静脉曲张切除术前后分别为3.11±0.80和3.70±0.78(P<0.0001)。精索静脉曲张手术前后血清睾酮水平(ng/dL)分别为323.90±67.81和396.74±40.88(P<.0001)。原发性和继发性不孕夫妇的自发妊娠率分别为18.60%和31.25%。他们的比率差异不显著(P=.251)。总体自然妊娠率为20.5%。
    放大镜辅助下腹股沟下精索静脉曲张切除术是治疗男性不育的安全有效方法,特别是当提供显微外科手术是不可用的。然而,只有大规模比较研究或多中心试验才能证实这一点.
    To study the impact of loupe assisted subinguinal varicocelectomy on semen quality, serum testosterone level, and spontaneous pregnancy rate.
    The data were prospectively collected for 102 infertile men with clinical varicocele. The preoperative values of semen analysis parameters and serum testosterone level were compared with postoperative values at 6 months. Spontaneous pregnancy was assessed at 6 months.
    The mean age of patients was 31.56 ± 4.31 years. Primary infertility was reported in 86 patients, while 16 had secondary infertility. Bilateral varicocele was seen in 79 patients while 23 had a unilateral varicocele. The total sperm concentration (×106/mL) before and after varicocelectomy was 12.82 ± 3.91 and 20.06 ± 2.13 respectively (P < .0001). The total sperm motility (%) before and after varicocelectomy was 37.67 ± 7.23 and 55.46 ± 4.51 respectively (P < .0001). The sperm morphology (Kruger/Strict morphology criteria, %) before and after varicocelectomy was 3.11 ± 0.80 and 3.70 ± 0.78 respectively (P < .0001). The serum testosterone level (ng/dL) before and after varicocelectomy was 323.90 ± 67.81 and 396.74 ± 40.88 respectively (P < .0001). The Spontaneous pregnancy rate in couples with primary and secondary infertility was 18.60% and 31.25% respectively. The difference in their rates was not significant (P = .251). The overall spontaneous pregnancy rate was 20.5%.
    Loupe-assisted sub-inguinal varicocelectomy is a safe and effective modality for treating infertile men, particularly when provision for microscopic surgery is unavailable. However, only large size comparative studies or multi-centric trials can confirm this.
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  • 文章类型: Journal Article
    背景:沙眼衣原体被认为是一个公共卫生问题,因为在性活跃的女性和男性中患病率很高。墨西哥男性生殖器衣原体基因型的分布未知。
    目的:评估以不育女性为性伴侣的男性中衣原体基因型的患病率。
    方法:从性伴侣为不育女性的男性中采集659例尿液样本;通过实时核酸扩增试验(qPCR)鉴定衣原体感染。OmpA基因PCR-RFLP和测序用于确认沙眼衣原体的基因型。基因型与年龄的关联,进一步分析了性伴侣的精子参数和妇科数据。
    结果:49个尿液样本为阳性感染(7.4%)。衣原体感染与畸形精子症显著相关,无精子症,精子症,和少精子症。正确鉴定了五种基因型(F51%;D为12.2%;E为12.2%;L2为6.1%和Ia为4.1%)。在这项比较研究中鉴定出的基因型均与某些精子值的变化呈正相关,因为所有这些基因型通常都会对这些细胞产生相当大的损害。
    结论:F基因型是墨西哥城不育男性中最常见的基因型,所有基因型在女性伴侣不育的墨西哥男性的遗传变异中起重要作用。
    BACKGROUND: Chlamydia trachomatis is considered a public health problem due to the high prevalence in sexually active women and men. The distribution of genital Chlamydia genotypes among Mexican men is unknown.
    OBJECTIVE: To assess the prevalence of Chlamydia genotypes in men with infertile women as sexual partners.
    METHODS: A total of 659 urine samples were collected from men whose sexual partners were infertile women; the identifying Chlamydia infection was by means of a real-time nucleic acid amplification test (qPCR). OmpA gene PCR-RFLP and sequencing were used to confirm the genotypes of C. trachomatis. The association of genotypes with age, spermatic parameters and gynecological data of sexual partners was further analyzed.
    RESULTS: Forty-nine urine samples were positive infection (7.4%). The Chlamydia infection was significantly associated with teratozoospermia, azoospermia, hypospermia, and oligozoospermia. Five genotypes (F 51%; 12.2% to D; 12.2% to E; 6.1% to L2 and 4.1% Ia) were correctly identified. None genotypes identified in this comparative study were positively associated with changes in some of the spermatic values because all of them typically produce some considerable damage to these cells.
    CONCLUSIONS: The F genotype was the most frequent genotype identified in infertile men from Mexico City and all genotypes play an important role in the seminal alteration of Mexican men whose female partners are infertile.
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  • 文章类型: Journal Article
    BACKGROUND: In our study, we sought answers to many questions about male infertility from a different perspective. The first step in male infertility is anamnesis, physical examination and sperm count. The European Academy of Andrology recommends examination of genetic causes in individuals with fewer than 5million/ml semen counts. The American Urological Association and American Society for Reproductive Medicine have guidelines recommending performing karyotype and AZF subgroup deletion testing in azoospermia and fewer than 5 million sperm total count. Klinefelter syndrome and Y chromosome microdeletions are still very important in male infertility. Based on patients with Klinefelter syndrome or Y microdeletion, we sought answers to many questions in male infertility.
    METHODS: In the presented study 327 male patients with having fewer than 15millionsperm/ml detected in at least two consecutive sperm analysis were examined. Patients were divided into sub-groups according to the presence of semen count, chromosomal anomaly and Y microdeletion. In addition, FSH, LH and testosterone levels were analyzed.
    RESULTS: Numerical chromosomal anomalies were observed in 34 (10.4%) of 327 patients, and all of these anomalies were found as 47, XXY. Individuals with no AZF microdeletion constituted 95.1% (n=311) of the study group. The overall frequency of AZF microdeletions was 4.9% (16/327). No AZF microdeletions were detected for the patients who have sperm counts above 2million/ml. FSH, LH and testosterone levels were found significantly different between the groups.
    CONCLUSIONS: The results of our study provide another layer of evidence to demonstrate the controversial threshold value of the EAA. In light of our data and current literature, we recommend to set the threshold value at 2million/ml for semen analysis. Further studies conducted in different ethnic groups and larger patient groups would contribute to clarify what exact value should be used to apply genetic tests.
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  • 文章类型: Case Reports
    A Chilean 35-year-old male patient with a history of primary infertility made an appointment at the Unit of Reproductive Medicine at Clínica Las Condes, Santiago, Chile. Multiple semen analyses revealed abnormal sperm morphology as the most prevalent finding. Multiflagellated and macrocephalic spermatozoa were observed and indicated a possible macrozoospermic phenotype. The constant presence of abnormal sperm morphology led the scope of the study to include Aurora Kinase C (AURKC) gene sequencing. The patient was diagnosed with a homozygous mutation of this gene. The mutation was detected in exon 6, type c.744C>G+/+ (P.Y248*) variant. As previously described in the Human Gene Mutation Database (HGMD), this pathogenic variant is associated with macrozoospermia. Although this mutation is not the most frequently observed, it is the first of its kind reported in Latin America.
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