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The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology 被引量:18
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作者 Yi-Jian Zhu Si-Yao Liu Huan Wang Ping Wei Xian-Ping Ding 《Asian Journal of Andrology》 SCIE CAS CSCD 2008年第6期873-881,共9页
Aim: To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor (AZF) region microdeletions on the Y chromosome and establish the prevalence of Y chromosomal microdeletions in Chinese ... Aim: To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor (AZF) region microdeletions on the Y chromosome and establish the prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. Methods: In total, 178 infertile patients with azoospermia (nonobstructed), 134 infertile patients with oligozoospermia as well as 40 fertile man controls were included in the present study. The samples were screened for AZF microdeletion using optimized multi-analyte suspension array (MASA) technology. Results: Of the 312 patients, 36 (11.5%) were found to have deletions in the AZF region. The rnicrodeletion frequency was 14% (25/178) in the azoospermia group and 8.2% (11/134) in the oligospermia group. Among 36 patients with microdeletions, 19 had deletions in the AZFc region, seven had deletions in AZFa and six had deletions in AZFb. In addition, four patients had both AZFb and AZFc deletions. No deletion in the AZF region was found in the 40 fertile controls. Conclusion: There is a high prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. The MASA technology, which has been established in the present study, provides a sensitive and high-throughput method for detecting the deletion of the Y chromosome. And the results suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments. 展开更多
关键词 Y chromosome microdeletion azoospermia factor male infertility multi-analyte suspension array (MASA)
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Y-chromosomal microdeletions and partial deletions of the Azoospermia Factor c(AZFc)region in normozoospermic,severe oligozoospermic and azoospermic men in Sri Lanka 被引量:9
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作者 L.Fernando J.Gromoll +2 位作者 T.R.Weerasooriya E.Nieschlag M.Simoni 《Asian Journal of Andrology》 SCIE CAS CSCD 2006年第1期39-44,共6页
Aim: To assess for the first time the occurrence of Y chromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in Sri Lankan men and to correlate them with clinical parameters. Met... Aim: To assess for the first time the occurrence of Y chromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in Sri Lankan men and to correlate them with clinical parameters. Methods: In a retrospective study, we analyzed 96 infertile men (78 with non-obstructive azoospermia) and 87 controls with normal spermatogenesis. AZFa, AZFb, AZFc and partial deletions within the AZFc region were analyzed by multiplex polymerase chain reaction (PCR) according to established protocols. Results: No AZFa, AZFb or AZFc deletions were found in the control group. Seven patients in the group of infertile men were found to have deletions as following: one AZFa, two AZFc, two AZFbc and two AZFabc. The relative distribution of these patterns was significantly different compared with that found in the German population. Extension analysis confirmed that the deletions occurred according to the current pathogenic model, gr/gr deletions were found to be equally present both in the patients (n = 4) and in the control group (n = 4). One b2/b3 deletion was found in the patient group. Conclusion: These results suggest that the frequency and pattern of microdeletions of the Y chromosome in Sri Lankan men are similar to those found in other populations and confirm that gr/gr deletions are not sufficient to cause spermatogenetic failure. (Asian J Androl 2006 Jan; 8: 39-44) 展开更多
关键词 Y chromosome male infertility gr/gr b2/b3 MICRODELETION normozoospermia azoospermia factor c
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Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region 被引量:2
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作者 Chen-Yao Deng Zhe Zhang +1 位作者 Wen-Hao Tang Hui Jiang 《Asian Journal of Andrology》 SCIE CAS CSCD 2023年第1期5-12,共8页
Spermatogenesis is regulated by several Y chromosome-specific genes located in a specific region of the long arm of the Y chromosome,the azoospermia factor region(AZF).AZF microdeletions are the main structural chromo... Spermatogenesis is regulated by several Y chromosome-specific genes located in a specific region of the long arm of the Y chromosome,the azoospermia factor region(AZF).AZF microdeletions are the main structural chromosomal abnormalities that cause male infertility.Assisted reproductive technology(ART)has been used to overcome natural fertilization barriers,allowing infertile couples to have children.However,these techniques increase the risk of vertical transmission of genetic defects.Despite widespread awareness of AZF microdeletions,the occurrence of de novo deletions and overexpression,as well as the expansion of AZF microdeletion vertical transmission,remains unknown.This review summarizes the mechanism of AZF microdeletion and the function of the candidate genes in the AZF region and their corresponding clinical phenotypes.Moreover,vertical transmission cases of AZF microdeletions,the impact of vertical inheritance on male fertility,and the prospective direction of research in this field are also outlined. 展开更多
关键词 azoospermia factor male infertility MICRODELETION vertical transmission
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Uniform deletion junctions of complete azoospermia factor region c deletion in infertile men in Taiwan 被引量:1
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作者 Chao-Chin Hsu Pao-Lin Kuo +3 位作者 Louise Chuang Ying-Hung Lin Yen-Ni Teng Yung-Ming Lin 《Asian Journal of Andrology》 SCIE CAS CSCD 2006年第2期205-211,共7页
Aim: To determine the deletion junctions of infertile men in Taiwan with azoospermia factor region c (AZFc) deletions and to evaluate the genotype/phenotype correlation. Methods: Genomic DNAs from 460 infertile me... Aim: To determine the deletion junctions of infertile men in Taiwan with azoospermia factor region c (AZFc) deletions and to evaluate the genotype/phenotype correlation. Methods: Genomic DNAs from 460 infertile men were examined. Bacterial artificial chromosome clones were used to verify the accuracy of polymerase chain reaction. Deletion junctions of the AZFc region were determined by analysis of sequence-tagged sites and gene-specific markers. Results: Complete AZFc deletions, including BPY2, CDY1 and DAZ genes, were identified in 24 men. The proximal breakpoints were clustered between sY1197 and sY1192, and the distal breakpoints were clustered between sY1054 and sYl125 in all but one of the 24 men. The testicular phenotypes of men with complete AZFc deletion varied from oligozoospermia, to hypospematogenesis, to maturation arrest. Conclusion: We identified a group of infertile men with uniform deletion junctions of AZFc in the Taiwan population. Despite this homogeneous genetic defect in the AZFc region, no clear genotypedphenotype correlation could be demonstrated. (Asian JAndrol 2006 Mar; 8: 205-211) 展开更多
关键词 azoospermia factor BPY2 CDY1 deleted in azoospermia Y chromosome
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Investigation on Azoospermia Factor (AZF) Microdeletion and Sex-determining Region Y (SRY) of the Y Chromosome in Male Infertility
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作者 Li-hua LU Fei-xue HU Song GE 《Journal of Reproduction and Contraception》 CAS 2013年第2期88-94,共7页
Objective To determine the incidence of azoospermia faetor (AZF) microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y (SRY) in sex differentiation. Method... Objective To determine the incidence of azoospermia faetor (AZF) microdeletions of Y chromosome in male infertility and to investigate the mechanism of sex-determining region Y (SRY) in sex differentiation. Methods The mierodeletion of AZF was detected by multiplex polymerase chain reaction (PCR) using Y-chromosome specific sequence tagged sites (STSs), and SRY was analyzed by PCR and sequencing. Results There were 100 cases with AZF microdeletion and the ratio of AZF microdeletion was 6.8% over all 1 474 cases. The ratios of AZF microdeletion of azoospermia group and severe oligozoospermia group were 9.0% and 7.1%, respectively, which was significantly different from oligozoospermia group (P〈 0. 05). There were 67 cases with 5 STSs mierodeletion of sY152, sY239, sY243, sY254 and sY255. There were 20 cases with long fragment deletion more than 10 STSs, and the patterns of AZF microdeletion in other 13 cases were rare. In all 9 patients with disorders of sex differentiation, there were 6patients with SRY-absent and AZF-absent. There was no mutation of SRY gene by sequencing in other 3 patients with SRY-positive. Conclusion Deletions in AZF region of Y chromosome are specific with diagnoses with spermatogenesis disorder. Deletions of sY152, sY239, sY243, sY254 and sY255 occur the most frequently. SRY was an important candidate gene of testis-determining factor (TDF) gene. 展开更多
关键词 sex-determining region Y (SRY) azoospermia factor (AZF) sex differentiation SPERMATOGENESIS
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Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia 被引量:15
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作者 Terapom Vutyavanich Warapom Piromlertamom +1 位作者 Wasna Sirirungsi Supachai Sirisukkasem 《Asian Journal of Andrology》 SCIE CAS CSCD 2007年第1期68-75,共8页
Aim: To investigate the possible causes of oligozoospermia and azoospermia in infertile Thai men, and to find the frequencies of Y chromosome microdeletions and cytogenetic abnormalities in this group. Methods: From... Aim: To investigate the possible causes of oligozoospermia and azoospermia in infertile Thai men, and to find the frequencies of Y chromosome microdeletions and cytogenetic abnormalities in this group. Methods: From June 2003 to November 2005, 50 azoospermic and 80 oligozoospermic men were enrolled in the study. A detailed history was taken for each man, followed by general and genital examinations. Y chromosome microdeletions were detected by multiplex polymerase chain reaction (PCR) using 11 gene-specific primers that covered all three regions of the azoospermic factor (AZFa, AZFb and AZFc). Fifty men with normal semen analysis were also studied. Karyotyping was done with the standard G- and Q-banding. Serum concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL) and testosterone were measured by electrochemiluminescence immunoassays (ECLIA). Results: Azoospermia and oligozoospermia could be explained by previous orchitis in 22.3%, former bilateral cryptorchidism in 19.2%, abnormal karyotypes in 4.6% and Y chromosome microdeletions in 3.8% of the subjects. The most frequent deletions were in the AZFc region (50%), followed by AZFb (33%) and AZFbc (17%). No significant difference was detected in hormonal profiles of infertile men, with or without microdeletions. Conclusion: The frequencies of Y chromosome microdeletions and cytogenetic abnormalities in oligozoospermic and azoospermic Thai men are comparable with similarly infertile men from other Asian and Western countries. 展开更多
关键词 azoospermia factor azoospermia male infertility OLIGOZOOSPERMIA Y chromosome microdeletions
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Clinical and pathological correlation of the microdeletion of Y chromosome for the 30 patients with azoospermia and severe oligoasthenospermia 被引量:6
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作者 Han-Sun Chiang Shauh-Der Yeh +3 位作者 Chien-Chih Wu Boo-Chung Huang Hui-Ju Tsai Chia-Lang Fang 《Asian Journal of Andrology》 SCIE CAS CSCD 2004年第4期369-375,共7页
Aim: To review the accumulated 30 patients with different area of Y chromosome microdeletions, focusing on their correlation with the clinical and pathological findings. Methods: A total of 334 consecutive infertile m... Aim: To review the accumulated 30 patients with different area of Y chromosome microdeletions, focusing on their correlation with the clinical and pathological findings. Methods: A total of 334 consecutive infertile men with azoospermia (218 patients) and severe oligoasthenospermia (116 patients) were screened. Complete physical and endocrinological examinations, general chromosome study and multiplex polymerase chain reaction assay to evaluate the Y chromosome microdeletion were performed. Ten patients received testicular biopsy. Then the clinical and pathological findings were analyzed with reference to the areas of Y chromosome microdeletion. Results: There is a decline of the percentage of sperm appearing in semen in the group that the gene deletion region from AZFc to AZFb. The clinical evidence of the impairment (decreased testicular size and elevated serum FSH) is also relevantly aggravated in this group. However, the pathology of testicular biopsy specimen was poorly correlated with the different deletion areas of the Y chromosome, which may be due to the limited number of specimens. Conclusion: The clinical correlation of spermatogenic impairment to the different AZF deletion regions may provide the information for the infertile couples in pre-treatment counseling. 展开更多
关键词 chromosome deletion male infertility azoospermia factor azoospermia OLIGOASTHENOSPERMIA Y chromosome
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柳州地区2002例男性不育患者Y染色体AZF基因微缺失分析
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作者 钟鑫 陈丽竹 +8 位作者 袁德健 覃宋强 黄钧 黄诚 张玲 谢莉 韦小妮 钟青燕 唐宁 《检验医学》 2026年第1期28-33,共6页
目的分析柳州地区男性不育患者Y染色体无精子因子(AZF)基因微缺失类型特征,为临床诊疗相关疾病提供参考。方法选取2018年4月—2023年6月柳州市妇幼保健院和广州市妇女儿童医疗中心柳州医院原发性男性不育患者2002例,进行Y染色体AZF基因... 目的分析柳州地区男性不育患者Y染色体无精子因子(AZF)基因微缺失类型特征,为临床诊疗相关疾病提供参考。方法选取2018年4月—2023年6月柳州市妇幼保健院和广州市妇女儿童医疗中心柳州医院原发性男性不育患者2002例,进行Y染色体AZF基因微缺失检测、染色体核型分析、精液常规检测和精子DNA碎片率检测。结果共检出Y染色体AZF基因微缺失152例(7.59%),其中基础位点缺失69例、扩展位点缺失83例。152例Y染色体AZF基因微缺失患者中,壮族45例(基础位点缺失29例、扩展位点缺失16例)、汉族87例(基础位点缺失29例、扩展位点缺失58例)、其他民族20例(基础位点缺失11例、扩展位点缺失9例)。有12例Y染色体AZF基因扩展位点缺失的患者精液常规检测结果正常。1762例行染色体核型分析的患者中,仅检出32例(1.82%)Y染色体异常,其中13例检出Y染色体AZF基因微缺失。875例行精子DNA碎片率检测的患者中,有244例精子碎片率>30%,其中21例(8.61%)检出Y染色体微缺失;有631例精子碎片率<30%,其中32例(5.07%)检出Y染色体微缺失。结论AZF基因微缺失检测可提高男性异常Y染色体的检出率,但无法确定男性不育的病因,建议采用多种检测方法进行辅助诊断。 展开更多
关键词 无精子因子基因 Y染色体 核型分析 精子DNA碎片 不育
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Male infertility: risk factors in Mongolian men 被引量:5
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作者 G.Bayasgalan D.Naranbat +2 位作者 J.Radnaabazar T.Lhagvasuren P.J.Rowe 《Asian Journal of Andrology》 SCIE CAS CSCD 2004年第4期305-311,共7页
Aim: To determine the most common risk factors of male infertility in Mongolian men attending an infertility clinic. Methods: A prospective, case-control study was conducted in which 430 men were enrolled. All the men... Aim: To determine the most common risk factors of male infertility in Mongolian men attending an infertility clinic. Methods: A prospective, case-control study was conducted in which 430 men were enrolled. All the men had sought their first infertility evaluation between 1998-2002 in the State Research Center on Maternal Child Health, Ulaanbaatar, Mongolia. They were divided into two groups depending on the results of their semen analysis: 191 with abnormal semen and 239 with normal semen profile. Univariate and multivariate analyses were performed to determine any association between risk factors and semen abnormality. Results: Logistic regression analysis demonstrated that the testicular volume, a history of sexually transmitted infections (STI), epididymitis and testicular damage all have statistically significant associations with semen abnormality, when controlled for multiple risk factors. Adjusted odds ratios of 3.4 for mumps orchitis, 2.3 for other orchitis and 3.9 for testicular injury were found. Gonorrhoea, the most commonly reported STIs in this study, gave an adjusted odds ratio of 1.0 for having one or more sperm abnormality. An adjusted odds ratio for subjects with a history of other STIs was 2.7. However, as a predictor of azoospermia, STIs had very high odds ratio, being 5.6 in patients with gonorrhoea and 7.6 in patients with other STIs. Conclusion: A history of pathology involving testicular damage appeared to have the strongest impact on male infertility in Mongolia. STIs have less impact on semen quality except when complicated by orchitis, epididymitis and vasal obstruction. 展开更多
关键词 male infertility semen quality risk factors azoospermia sexually transmitted infections testis injury
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Molecular genetic analysis of microdeletion on AZF/DAZ gene in patients with idiopathic azoospermia and severe oligozoospermia in Fujian
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作者 张群芳 宋岩峰 朱忠勇 《生殖医学杂志》 CAS 2006年第B10期38-42,共5页
Objective: To identify microdeletions in azoospermia factor(AZF) gene loci in patients with idiopathic azoospermia and severe oligozoospermia in Fujian. Methods: Molecular genetic detection method was used to detect m... Objective: To identify microdeletions in azoospermia factor(AZF) gene loci in patients with idiopathic azoospermia and severe oligozoospermia in Fujian. Methods: Molecular genetic detection method was used to detect microdeletion at the AZFa, AZFb, AZFc /DAZ,SRY region of Y chromosome in 47 azoospermia and 4 severe oligozoospermia patients. Genomic DNA was extracted from peripheral blood. The sequence tagged site (STS) primers tested in each cases were sY84(AZFa), sY 143(AZFb) sY254(AZFc).SRY region of Y chromosome for control. The PCR products were analyzed on a 2.0% agarose gel. Results: Microdeletions of the Y-chromosomal AZF loci were revealed in 18(35.3%,18/51) of 51 patients with idiopathic azoospermia and severe oligozoospermia. AZFa deletion was found in four (7.8%) patients, AZF b in five (9.8%) patients, AZF c in four (7.8%) patients. AZF a+b in one(1.9%)patient, AZF b+c in two (3.9%) patients, AZF a+b+c in two (3.9%)patients respectively. No deletion of SRY region was found. No deletion of AZF a, AZF b, AZF c/DAZ,SRY regions was found in five fertile male who had at least one or more children. Conclusions: Microdeletions on AZF/DAZ gene loci were major genetics defects leading to azoospermia and severe oligozoospermia in male idiopathic infertility in Fujian. It is necessary to have genetic counseling and carry out microdeletion detection on AZF/DAZ gene loci before performing intracytoplasmic sperm injection (ICSI). 展开更多
关键词 分子遗传分析 基因 无精子 治疗方法 男性 生殖健康
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Y染色体微缺失在先天性生殖系统疾病男性患儿中的分布及对睾丸发育的影响
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作者 梁妍 吕逸清 +3 位作者 黄轶晨 李嫔 许无恨 陈方 《浙江大学学报(医学版)》 北大核心 2025年第6期746-753,共8页
目的:分析先天性生殖系统疾病男性患儿Y染色体无精子症因子(AZF)微缺失的分布及对睾丸发育的影响。方法:前瞻性队列研究分析2021年11月至2023年12月上海交通大学医学院附属儿童医院泌尿外科收治的手术患儿,观察组为尿道下裂、隐睾、性... 目的:分析先天性生殖系统疾病男性患儿Y染色体无精子症因子(AZF)微缺失的分布及对睾丸发育的影响。方法:前瞻性队列研究分析2021年11月至2023年12月上海交通大学医学院附属儿童医院泌尿外科收治的手术患儿,观察组为尿道下裂、隐睾、性发育异常患儿,对照组为包茎、腹股沟斜疝或鞘膜积液患儿。收集患儿的血液标本,采用多重聚合酶链反应法对Y染色体AZF的15个位点进行检测。同时对观察组和对照组进行睾丸超声检查,记录睾丸位置及睾丸体积。经倾向评分匹配(PSM)和按照患儿年龄进行分层后,分析对照组与观察组间以及有无AZF微缺失患儿间睾丸体积的差异。结果:入组患儿共493例,其中观察组463例(尿道下裂372例,隐睾71例,性发育异常20例),对照组30例。对照组中未发现Y染色体微缺失病例,观察组中有4例患儿出现Y染色体微缺失,其中隐睾患儿1例(AZFc+AZFd区),孤立性尿道下裂患儿1例(AZFc区),性发育异常患儿2例(分别为AZFb+AZFc+AZFd区和AZFa区)。超声下测量睾丸888侧,PSM后对照组患儿的睾丸体积大于观察组(P<0.01)。分层分析结果显示,观察组有AZF微缺失患儿的睾丸体积有小于对照组和观察组无AZF微缺失患儿的趋势。结论:先天性生殖系统疾病男性患儿出现Y染色体AZF微缺失的概率大于普通人群,其中性发育异常患儿出现Y染色体AZF微缺失的概率大于隐睾及尿道下裂患儿。尿道下裂、隐睾和性发育异常及AZF微缺失均可能延缓患儿的睾丸发育。 展开更多
关键词 无精子症因子 Y染色体微缺失 隐睾 尿道下裂 性发育异常 睾丸体积
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非梗阻性无精子症患者的阴茎勃起硬度现状及其影响因素
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作者 赖敏华 林燕珊 +9 位作者 邹芳亮 张扬 龙婧 夏华安 林丽红 邓运芝 陈锐芸 杨健华 徐瑶 彭天文 《实用医学杂志》 北大核心 2025年第20期3276-3282,共7页
目的探索非梗阻性无精子症患者阴茎勃起硬度的现状及其影响因素。方法2024年1—12月于生殖医学中心对450例非梗阻性无精子症患者进行问卷调查,采用自制的一般资料调查问卷收集其人口学资料,采用勃起硬度评分表(EHS)调查其阴茎勃起硬度... 目的探索非梗阻性无精子症患者阴茎勃起硬度的现状及其影响因素。方法2024年1—12月于生殖医学中心对450例非梗阻性无精子症患者进行问卷调查,采用自制的一般资料调查问卷收集其人口学资料,采用勃起硬度评分表(EHS)调查其阴茎勃起硬度的现状,采用自制的问卷调查其影响因素。结果450例非梗阻性无精子症患者中,在性生活时,35.3%的患者表示阴茎勃起硬度能达到4级(正常的状态),54.5%的患者表示阴茎勃起硬度仅达到3级(欠佳的状态),9.3%的患者表示阴茎勃起硬度只达到2级(阴茎轻微勃起),0.9%的患者表示阴茎勃起硬度只达到1级(阴茎无法勃起)。在性生活质量满意度调查结果示:仅24.9%的患者表示对性生活质量十分满意;57.3%的患者表示对性生活质量基本满意;9.6%的患者表示性生活质量一般;4.0%的患者表示对性生活质量不满意;3.1%的患者表示对性生活质量非常不满意,1.1%的患者表示夫妻间无性生活。二元logistic回归分析结果显示,非梗阻性无精子症患者的阴茎勃起硬度的影响因素为饮酒(OR=2.393,95%CI:1.493~3.836)、性生活质量满意度(OR=1.455,95%CI:1.118~1.894)、学历(OR=0.709,95%CI:0.549~0.917)和近1个月睡眠质量情况(OR=0.641,95%CI:0.452~0.907)。结论饮酒习惯、性生活满意度、睡眠质量及学历等因素,共同影响非梗阻性无精子症患者的阴茎勃起硬度。医护团队需基于患者个体差异,定制个性化干预方案与科普内容,通过心理疏导和生活方式指导,改善勃起功能与性生活质量,促进夫妻关系和谐,提升患者生活体验。 展开更多
关键词 非梗阻性无精子症 勃起硬度 性生活满意度 现状分析 影响因素
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血清胰岛素样生长因子-1水平与男性精液参数的相关性研究
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作者 许一诺 郑彬 +8 位作者 黄飞燕 谭日钊 何锋荣 张贺庆 简国登 贾晨尧 游猛 牛元元 朱永通 《中国性科学》 2025年第4期12-16,共5页
目的分析生精功能不良患者及生育功能正常男性的血清胰岛素样生长因子-1(IGF-1)水平,探讨其与男性精液参数的相关性。方法回顾性分析2021年1月至2022年12月南方医科大学南方医院生殖医学中心男科门诊及实验室诊治的62例生育功能正常男... 目的分析生精功能不良患者及生育功能正常男性的血清胰岛素样生长因子-1(IGF-1)水平,探讨其与男性精液参数的相关性。方法回顾性分析2021年1月至2022年12月南方医科大学南方医院生殖医学中心男科门诊及实验室诊治的62例生育功能正常男性(A组)与719例生精功能不良患者[34例少精子症(B组)、32例弱精子症(C组)、32例畸精子症(D组)、153例少弱畸精子症(E组)、468例非梗阻性无精子症(F组)]的临床资料。比较各组血清IGF-1水平,采用Pearson相关性分析血清IGF-1与精液参数的相关性。结果各组血清IGF-1水平比较,差异具有统计学意义(P<0.05)。A组血清IGF-1水平与前向运动精子百分率呈正相关(r=0.33,P=0.0092),与正常形态精子百分率呈负相关(r=-0.30,P=0.0200)。B、C、D、E组血清IGF-1水平与各精液参数均无显著相关性(P>0.05)。结论与生育功能正常男性比较,生精功能不良患者的血清IGF-1水平更低。血清IGF-1水平与前向运动精子百分率呈线性正相关。 展开更多
关键词 胰岛素样生长因子-1 少精子症 弱精子症 畸精子症 无精子症 精液参数
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原发性无精、少弱精症患者Y染色体AZF微缺失检测 被引量:26
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作者 胡兰萍 刘能辉 +9 位作者 潘乾 梁德生 龙志高 胡浩 朱海燕 戴和平 蔡芳 邬玲仟 夏昆 夏家辉 《中南大学学报(医学版)》 CAS CSCD 北大核心 2007年第2期241-245,共5页
目的:研究男性不育与Y染色体位点缺失的相关性,建立可靠的原发性无精子症和少弱精子症患者Y染色体微缺失的基因诊断方法。方法:采用多重PCR技术,对100例染色体核型正常的、无精子症和少弱精子症患者Y染色体无精子因子(azoospermia facto... 目的:研究男性不育与Y染色体位点缺失的相关性,建立可靠的原发性无精子症和少弱精子症患者Y染色体微缺失的基因诊断方法。方法:采用多重PCR技术,对100例染色体核型正常的、无精子症和少弱精子症患者Y染色体无精子因子(azoospermia factor,AZF)区域的6个序列标签位点进行检测。结果:100例患者中,4例(4%)Y染色体上存在不同位点等位基因片段的缺失,其中3例患者为无精子症;1例为严重少弱精子症。结论:以多重PCR为基础的AZF微缺失筛查是一种简单有效的诊断原发性无精子症和少弱精子症的方法。Y染色体微缺失是严重生精障碍的重要原因之一。 展开更多
关键词 原发性无精 男性不育 AZF因子 多重PCR
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男性不育患者Y染色体AZF区微缺失分析 被引量:12
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作者 刘祥印 薛百功 +3 位作者 刘睿智 戴汝琳 常燕 高久春 《吉林大学学报(医学版)》 CAS CSCD 北大核心 2008年第2期305-308,共4页
目的:探讨Y染色体上无精子因子(AZF)微缺失与男性不育的关系。方法:应用多重PCR技术,采用AZF区9个序列标签位点(STS),对107例男性不育患者(83例无精子症和24例严重少精子症)和20例正常生育男性外周血进行微缺失分析。结果:在107例无精... 目的:探讨Y染色体上无精子因子(AZF)微缺失与男性不育的关系。方法:应用多重PCR技术,采用AZF区9个序列标签位点(STS),对107例男性不育患者(83例无精子症和24例严重少精子症)和20例正常生育男性外周血进行微缺失分析。结果:在107例无精症和少精子症不育患者中11例AZF区域微缺失,缺失率10.3%,其中无精症组缺失率为9.6%(8/83),少精子症组缺失率为12.5%(3/24)。11例微缺失患者中,单独AZFc区缺失患者5例(45.5%),AZFc+d区缺失患者4例(36.4%),AZFb+c区、AZFb+c+d区缺失患者各1例(9.1%);位点sY254和sY255缺失患者分别为72.7%(8/11)和100%(11/11)。20例正常生育男性未检测出Y染色体微缺失。结论:Y染色体AZF微缺失是导致男性不育患者精子发生障碍的重要原因。 展开更多
关键词 无精子因子 无精子症 少精子症 多重PCR
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改良多重聚合酶链反应检测Y染色体AZF微缺失 被引量:25
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作者 朱晓斌 郭安亮 +6 位作者 曹小蓉 刘勇 孙序序 姚见儿 王毅 王益鑫 李铮 《中华男科学杂志》 CAS CSCD 2006年第3期199-201,206,共4页
目的:对多重聚合酶链反应(PCR)优化改良,检测Y染色体无精子因子(AZF)区域微缺失。方法:实验组选择160例精子发生障碍患者,对照组90例为合格捐精者。按照欧洲男科协会和欧洲分子遗传实验质控网检测指南进行多重PCR,对Y染色体序列标签点... 目的:对多重聚合酶链反应(PCR)优化改良,检测Y染色体无精子因子(AZF)区域微缺失。方法:实验组选择160例精子发生障碍患者,对照组90例为合格捐精者。按照欧洲男科协会和欧洲分子遗传实验质控网检测指南进行多重PCR,对Y染色体序列标签点引物序列和PCR反应条件优化改良,筛查AZFa、b、c区域的微缺失。结果:采用改良多重PCR,160例生精障碍患者中发现AZF微缺失14例(8.75%),其中AZFc12例,AZFa+b+c1例,AZFb+c1例;对照组90例未发现微缺失;两组比较,差异有极显著性(P<0.001)。所有PCR产物电泳条带清晰,时间缩短至1h。结论:对欧洲男科协会和欧洲分子遗传实验质控网推荐的多重PCR技术优化改良,用于精子发生障碍患者的YqAZF区域筛查,结果可靠、快捷、重复性好。 展开更多
关键词 多重聚合酶链反应 无精子因子 Y染色体微缺失 质量控制
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不育男性无精子症因子微缺失的分子与临床特征:5年研究回顾 被引量:15
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作者 史轶超 崔英霞 +6 位作者 魏莉 周玉春 邵永 夏欣一 商学军 朱维铭 黄宇烽 《中华男科学杂志》 CAS CSCD 北大核心 2010年第4期314-319,共6页
目的:近年来,Y染色体长臂无精子症因子(AZF)微缺失与男性不育关系的研究已经取得了很大的进展。然而,AZF微缺失的形成机理及各种缺失类型与临床表型之间的关系还不十分确定。本研究的目的是探讨中国不育男性的Y染色体微缺失的发生率、... 目的:近年来,Y染色体长臂无精子症因子(AZF)微缺失与男性不育关系的研究已经取得了很大的进展。然而,AZF微缺失的形成机理及各种缺失类型与临床表型之间的关系还不十分确定。本研究的目的是探讨中国不育男性的Y染色体微缺失的发生率、缺失类型以及基因型与表型之间的关系。方法:本研究对2005年至2009年本院男科门诊502例非梗阻性无精子症和306例严重少精子症的不育男性进行Y染色体AZF缺失分析。结果:AZF总体缺失率为7.80%(63/808),其中无精子症不育男性缺失率为9.16%(46/502),严重少精症患者为5.56%(17/306)。完全的AZFa缺失或AZFb缺失患者的精液中均没有成熟精子,而AZFc缺失的表型是多样化的。1例部分AZFb缺失患者有成熟精子发生,精子密度呈轻度进行下降。最常见的缺失类型为AZFc b2/b4亚型,占60.32%(38/63),其中39.47%(15/38)的患者精液中能发现成熟精子,其中1例为自然遗传的AZFc b2/b4缺失。63例缺失患者中仅1例AZFc b2/b4缺失患者的精子密度超过2×109/L。结论:AZF微缺失对精子发生障碍具有良好的诊断和评估价值。对Y染色体微缺失的大样本临床研究有利于进一步明确基因型与表型的关系,更好地理解AZF缺失的机制。 展开更多
关键词 Y染色体微缺失 无精子症因子 不育 男性
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gr/gr和b2/b3缺失中不同DAZ拷贝缺失与精子发生障碍的相关性研究 被引量:11
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作者 王亚民 李权 +3 位作者 宋乐彬 张嘉宜 杨杰 宋宁宏 《中华男科学杂志》 CAS CSCD 北大核心 2016年第1期17-21,共5页
目的:研究AZFc区gr/gr和b2/b3缺失中DAZ基因拷贝缺失对中国男性精子发生障碍的影响。方法:试验组纳入121例不同程度生精障碍的不育男性,对照组选择了95例健康男性且均符合《WHO人类精液检查与处理实验室手册》第5版标准,通过常规PCR和PC... 目的:研究AZFc区gr/gr和b2/b3缺失中DAZ基因拷贝缺失对中国男性精子发生障碍的影响。方法:试验组纳入121例不同程度生精障碍的不育男性,对照组选择了95例健康男性且均符合《WHO人类精液检查与处理实验室手册》第5版标准,通过常规PCR和PCR-RFLP以及Y染色体特异性序列标签位点(STS),分析AZFc区不同类型gr/gr和b2/b3缺失中DAZ基因拷贝缺失与男性精子发生障碍的关系。结果:对照组中共观察到13例(13.68%)gr/gr缺失和1例(1.05%)b2/b3缺失,试验组中发现15例(12.40%)gr/gr缺失及6例(4.96%)b2/b3缺失。DAZ特异性单核苷酸变异位点(SNV)分析显示对照组中有3例(3.16%)gr/gr-DAZ1/DAZ2缺失和10例(10.53%)gr/gr-DAZ3/DAZ4缺失以及1例(1.05%)b2/b3-DAZ3/DAZ4缺失,试验组中有11例(9.09%)gr/gr-DAZ1/DAZ2缺失和4例(3.31%)gr/gr-DAZ3/DAZ4缺失以及6例(4.96%)b2/b3-DAZ1/DAZ2缺失。结论:中国男性Y染色体AZFc部分缺失(gr/gr、b2/b3缺失)在正常生精者和不同程度的生精障碍患者中均存在,且差异无统计学意义,不能作为精子发生障碍的危险因素。但gr/gr和b2/b3缺失中不同类型的DAZ拷贝子缺失对男性精子发生的影响不同,DAZ1/DAZ2缺失与男性生精功能障碍相关,可能是导致男性不育的危险因素,而DAZ3/DAZ4缺失似乎对生精的影响很小或不起作用。 展开更多
关键词 Y染色体 男性不育 无精子症缺失基因 无精子症因子 精子发生障碍 gr/gr b2/b3
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QF-PCR筛查男性不育患者Y染色体无精子症因子微缺失 被引量:9
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作者 张媛媛 杜强 +3 位作者 刘晓亮 崔婉婷 何蓉 赵彦艳 《遗传》 CAS CSCD 北大核心 2014年第6期552-557,共6页
为评估定量荧光PCR(Quantitative fluorescent polymerase chain reaction,QF-PCR)技术在快速筛查无精子症因子(Azoospermia factor,AZF)微缺失中的应用,文章对1218例非梗阻性无精子症、少精子症的男性不育患者,采用多重QF-PCR结合毛细... 为评估定量荧光PCR(Quantitative fluorescent polymerase chain reaction,QF-PCR)技术在快速筛查无精子症因子(Azoospermia factor,AZF)微缺失中的应用,文章对1218例非梗阻性无精子症、少精子症的男性不育患者,采用多重QF-PCR结合毛细管电泳技术,检测Y染色体长臂AZF区9个序列标签位点(Sequence tagged site,STS)以及性染色体短臂的AMEL(Amelogenin)和SRY(Sex-determining region of Y chromosome)位点,辅以常规染色体G显带方法进行核型分析。结果显示,1218例患者中105例可见AZF区微缺失(8.62%),其中AZFc区缺失(67.62%)最常见,其次为AZFb,c区缺失(20.95%);AZFb区缺失(7.62%)和AZFa区缺失(3.81%)则较少见;另有5例患者为AZFa,b,c区缺失合并AMEL-Y缺失,提示可能缺少Y染色体,经核型分析验证为46,XX(性反转)。105例AZF区微缺失患者的染色体核型分析显示染色体异常16例,其中"Yqh-"12例。根据AMEL-X/AMEL-Y比值,可见1218例患者中86例可能存在性染色体异常,经核型分析验证,68例为性染色体非整倍体。多重QF-PCR技术,一个反应即能检测样本的多个位点,并可提示性染色体是否存在异常,有助于男性不育患者尽早明确病因,也为后续的检查和治疗提供依据。 展开更多
关键词 无精子症因子 微缺失 Y染色体 定量荧光PCR 男性不育症
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精索静脉曲张男性不育患者Y染色体微缺失检测 被引量:7
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作者 高佃军 李江松 +3 位作者 孙宝刚 柳港 祝增军 刘伟光 《中华男科学杂志》 CAS CSCD 2012年第11期973-977,共5页
目的:探讨精索静脉曲张(varicocele,VC)不育患者Y染色体微缺失特点及其与临床表型的关系,为评价VC不育患者是否行手术治疗或ICSI提供依据。方法:VC不育患者174例,分为3组,A组:无精子症47例;B组:严重少精子症57例;C组:轻度少精子症70例;... 目的:探讨精索静脉曲张(varicocele,VC)不育患者Y染色体微缺失特点及其与临床表型的关系,为评价VC不育患者是否行手术治疗或ICSI提供依据。方法:VC不育患者174例,分为3组,A组:无精子症47例;B组:严重少精子症57例;C组:轻度少精子症70例;设立正常生育的健康志愿者男性28例作为对照组(D组)。抽取外周血提取DNA,选取Y染色体上AZFa、AZFb、AZFc区共6个序列标签位点,应用多重PCR进行扩增;已生育女性26例作为阴性对照,分别运用琼脂糖凝胶电泳分离,对照阅读扩增产物,判定有无缺失存在以及缺失类型。结果:174例男性不育患者中有22例检测到Y染色体微缺失,缺失率12.64%;A组11例存在微缺失,B组11例存在微缺失,C组未检测到微缺失。A组与C组、B组与C组比较,差异均有显著性。A组缺失病例中有6例为AZFc区缺失,1例为AZFa缺失,2例为AZFb区缺失,2例为AZFb、AZFc区共同缺失;B组缺失病例中有8例为AZFc缺失,2例为AZFb缺失,1例为AZFb、AZFc区共同缺失。结论:①精液异常VC不育与Y染色体微缺失有关;②VC不育患者特别是无精子症和严重少精子症患者,应该进行Y染色体微缺失的检测。 展开更多
关键词 精索静脉曲张 男性不育 Y染色体微缺失 无精子因子
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