检索结果-南通市图书馆

Efficacy of stepwise mini-incision microdissection testicular sperm extraction for nonobstructive azoospermia with varied etiologies

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2023年第5期25卷 621-626页

作者： Yu-Xiang Zhang Chen-Cheng Yao Yu-Hua Huang Peng Li Er-Lei Zhi Zi-Jue Zhu Jian-Xiong Zhang Fu-Jun Zhao Zheng Li Ru-Hui Tian Department of Andrology The Center for Men's HealthUrologic Medical CenterShanghai Key Laboratory of Reproductive MedicineShanghai General HospitalShanghai Jiao Tong University School of MedicineShanghai 200080China

Stepwise mini-incision microdissection testicular sperm extraction(mTESE)is a procedure that attempts to minimize testicular damage.However,the mini-incision approach may vary in patients with different etiologies.Here,we performed a retrospective analysis of 665 men with nonobstructive azoospermia(NOA)who underwent stepwise mini-incision mTESE(Group 1)and 365 men who underwent standard mTESE(Group 2).The results showed that the operation time(mean±standard deviation)for patients with successful sperm retrieval in Group1(64.0±26.6min)was significantly shorter than that in Group2(80.2±31.3min),with P0.05),even when the etiologies of NOA were taken into consideration.The results of consecutive multivariate logistic regression analysis(odds ratio[0R]:0.57;95%confidence interval[Cl]:0.38-0.87;P=0.009)and receiver operating characteristic(ROC)analysis(area under the ROC curve[AUC]=O.628)showed that preoperative anti-Mullerian hormone(AMH)level in idiopathic NOA patients was a potential predictor for surgical outcomes after initial three small incisions made in the equatorial region without sperm examined under an operating microscope(Steps 2-4).In conclusion,stepwise mini-incision mTESE is a useful technique for NOA patients,with comparable SRR,less surgical invasiveness,and shorter operation time compared with the standard approach.Low AMH levels may predict successful sperm retrieval in idiopathic patients even after a failed initial mini-incision procedure.

关键词： etiology male infertility nonobstructive azoospermia standard mTESE stepwise mini-incision mTESE

Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2023年第1期25卷 66-72页

作者： Yu-Jun Liu Xin-Jie Zhuang Jian-Ting An Hui Jiang Rong Li Jie Qiao Li-Ying Yan Xu Zhi Center for Reproductive Medicine Department of Obstetrics and GynecologyPeking University Third HospitalBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Beijing 100191China Key Laboratory of Assisted Reproduction Peking UniversityMinistry of EducationBeijing 100191China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100191China Department of Urology Peking University Third HospitalBeijing 100191China Department of Andrology Peking University Third HospitalBeijing 100191China

nonobstructive azoospermia(NOA)is a severe condition in infertile men,and increasing numbers of causative genes have been identified during the last few decades.Although certain causative genes can explain the presence of NOA in some patients,a proportion of NOA patients remain to be addressed.This study aimed to investigate potential high-risk genes associated with spermatogenesis in idiopathic NOA patients by whole-exome sequencing.Whole-exome sequencing was performed in 46 male patients diagnosed with NOA.First,screening was performed for 119 genes known to be related to male infertility.Next,further screening was performed to determine potential high-risk causative genes for NOA by comparisons with 68 healthy male controls.Finally,risk genes with high/specific expression in the testes were selected and their expression fluctuations during spermatogenesis were graphed.The frequency of cystic fibrosis transmembrane conductance regulator(CFTR)gene pathogenic variant carriers was higher in the NOA patients compared with the healthy controls.Potential risk genes that may be causes of NOA were identified,including seven genes that were highly/specifically expressed in the testes.Four risk genes previously reported to be involved in spermatogenesis(MutS homolog 5[MSH5],cilia-and flagella-associated protein 54[CFAP54],MAP7 domain containing 3[MAP7D3],and coiled-coil domain containing 33[CCDC33])and three novel risk genes(coiled-coil domain containing 168[CCDC168],chromosome 16 open reading frame 96[C16orf96],and serine protease 48[PRSS48])were identified to be highly or specifically expressed in the testes and significantly different in the 46 NOA patients compared with 68 healthy controls.This study on clinical NOA patients provides further evidence for the four previously reported risk genes.The present findings pave the way for further functional investigations and provide candidate risk genes for genetic diagnosis of NOA.

关键词： cystic fibrosis transmembrane conductance regulator nonobstructive azoospermia potential risk genes spermatogenesis whole-exome sequencing

MBOAT1 homozygous missense variant causes nonobstructive azoospermia

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2022年第2期24卷 186-190页

作者： Yang-Yang Wan Lan Guo Yao Yao Xiao-Yun Shi Hui Jiang Bo Xu Juan Hua Xian-Sheng Zhang Department of Urology The First Affiliated Hospital of Anhui Medical UniversityHefei 230022China Department of Biochemistry and Molecular Biology School of Basic Medical SciencesAnhui Medical UniversityHefei 230032China The Department of Urology Peking University Third HospitalPeking 100191China Reproductive and Genetic Hospital The First Affiliated Hospital of USTCDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001China

nonobstructive azoospermia(NOA)is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis.The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family.A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1(MBOAT1)gene(c.770C>T,p.Thr257Met)was found by whole-exome sequencing(WES).Bioinformatic analysis also showed that this variant was a pathogenic variant and that the amino acid residue in MBOAT1 was highly conserved in mammals.Quantitative polymerase chain reaction(Q-PCR)analysis showed that the mRNA level of MBOAT1 in the patient was 22.0%lower than that in his father.Furthermore,we screened variants of MBOAT1 in a broader population and found an additional homozygous variant of the MBOAT1 gene in 123 infertile men.Our data identified homozygous variants of the MBOAT1 gene associated with male infertility.This study will provide new insights for researchers to understand the molecular mechanisms of male infertility and will help clinicians make accurate diagnoses.

关键词： male infertility membrane-bound O-acyltransferase domain-containing 1 nonobstructive azoospermia whole-exome sequencing

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2017年第3期19卷 338-345页

作者： Carolina Goncalves Mariana Cunha Eduardo Rocha Susana Fernandess, Joaquina Silva Luis Ferraz Cristiano Oliveira Alberto Barros Mairio Sousa Department of Biology ClCECO University of Aveiro Campus Universitario de Santiago 3810-193 Aveiro Portugal Department of Microscopy Laboratory of Cell Biology Institute of Biomedical Sciences Abel Salazar University of Porto (ICBAS-UP) Rua Jorge Viterbo Ferreira 228 4050-313 Porto Portugal and Multidisciplinary Unit for Biomedical Research ICBAS-UP Portugal Centre for Reproductive Genetics Prof. Alberto Barros Av. do Bessa 240 1° Dto. Frente 4100-009 Porto Portugal Department of Microscopy Laboratory of Histology and Embryology ICBAS-UP Rua Jorge Viterbo Ferreira 228 4050-313 Porto Portugal Department of Genetics Faculty of Medicine University of Porto Alameda Prof. Hernani Monteiro 4200-319 Porto Portugal and Institute for Innovation and Health Research (13S) University of Porto Portugal Department of Urology Hospital Center of Vila Nova de Gala Rua Conceicao Fernandes 4430-502 Vila Nova de Gala Portugal.

The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection （ICSI）, either using fresh （TESE） or frozen-thawed （TESE-C） testicular sperm and ejaculated sperm （EJAC）. The originality of this work resides in the comparisons between the different types of Y-microdeletions （AZFa, AZFb, and AZFc） and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn （NB） outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia （18 performed ICSI with ejaculated sperm） and 92 secretory azoospermia （65 went for TESE with 40 having successful sperm retrieval and performed ICSI）. There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB （2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C）. Of the 29 EJAC cycles, there was a birth of 8 NB （in AZFc）. In TESE and EJAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

关键词： intracytoplasmic sperm injection newborn outcomes nonobstructive azoospermia severe oligozoospermia testicularsperm extraction Y-chromosome microdeletions

Sperm retrieval success and testicular histopathology in idiopathic nonobstructive azoospermia

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2020年第6期22卷 555-559页

作者： Arighno Das Joshua A Halpern Annie L Darves-Bornoz Mehul Patel James Wren Mary Kate Keeter Robert E Brannigan Department of Urology Northwestern University Feinberg School of MedicineChicagoIL 60611USA

Prior studies have investigated sperm retrieval rates in men with non obstructive azoospermia(NOA)secondary to specific etiologies,yet most cases of NOA are idiopathic.We compared sperm retrieval rates and testicular histopathology in idiopathic NOA(iNOA)and nonidiopathic NOA(niNOA).We performed a retrospective review of men with NOA who underwent microdissection testicular sperm extraction(microTESE)between 2000 and 2016.Men with no history of malignancy or cryptorchidism and negative genetic evaluation were considered idiopathic.Multivariable regression determined the association between idiopathic etiology and primary outcomes of sperm retrieval and active spermatogenesis on histopathology.Among 224 men,86(38.4%)were idiopathic,75(33.5%)were nonidiopathic,and 63(28.1%)did not undergo genetic testing.Median age and serum testosterone were higher among iNOA or no testing versus niNOA.Median follicle-stimulating hormone(FSH)was lower among iNOA or no testing versus niNOA.A higher proportion of iNOA or no testing versus niNOA had a clinical varicocele.Sperm retrieval rates were similar between iNOA,niNOA,and no testing(41.8%vs 48.0%vs 55.6%,respectively;P=0.255).Active spermatogenesis was seen in a higher proportion of iNOA or no testing versus niNOA(31.4%and 27.0%vs 16.0%,P=0.073).On multivariable analysis,iNOA was not associated with sperm retrieval or spermatogenesis(P=0.430 and P=0.078,respectively).Rates of sperm retrieval and spermatogenesis on testis pathology were similar in men with iNOA and niNOA.These data will be useful to clinicians in preoperative counseling for men with NOA and negative genetic evaluation.

关键词： microdissection testicular sperm extraction nonobstructive azoospermia sperm retrieval rate

Predictive value of FSH, testicular volume, and histopathological findings for the sperm retrieval rate of microdissection TESE in nonobstructive azoospermia： a meta-analysis

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2018年第1期20卷 30-36页

作者： Hao Li Li-Ping Chen Jun Yang Ming-Chao Li Rui-Bao Chen Ru-Zhu Lan Shao-Gang Wang Ji-Hong Liu Tao Wang Department of Urology Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China Institute of Urology Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China

We performed this meta-analysis to evaluate the predictive value of different parameters in the sperm retrieval rate （SRR） of microdissection testicular sperm extraction （TESE） in patients with nonobstructive azoospermia （NOA）. All relevant studies were searched in PubMed, Web of Science, EMBASE, Cochrane Library, and EBSCO. We chose three parameters to perform the meta-analysis： follicle-stimulating hormone （FSH）, testicular volume, and testicular histopathological findings which included three patterns： hypospermatogenesis （HS）, maturation arrest （MA）, and Sertoli-cell-only syndrome （SCOS）. If there was a threshold effect, only the area under the summary receiver operating characteristic curve （AUSROC） was calculated. Otherwise, the pooled sensitivity, specificity, positive likelihood ratio （PLR）, negative likelihood ratio （NLR）, and the diagnostic odds ratio （DOR） were also calculated. Twenty-one articles were included in our study finally. There was a threshold effect among studies investigating FSH and SCOS. The AUSROCs of FSH, testicular volume, HS, MA, and SCOS were 0.6119, 0.6389, 0.6758, 0.5535, and 0.2763, respectively. The DORs of testicular volume, HS, and MA were 1.98, 16.49, and 1.26, respectively. The sensitivities of them were 0.80, 0.30, and 0.27, while the specificities of them were 0.35, 0.98, and 0.76, respectively. The PLRs of them were 1.49, 10.63, and 1.15, respectively. And NLRs were 0.73, 0.72, and 0.95, respectively. All the investigated factors in our study had limited predictive value. However, the histopathological findings were helpful to some extent. Most patients with HS could get sperm by microdissection TESE.

关键词： microdissection TESE nonobstructive azoospermia prediction sperm retrieval rate

Clinical management of infertile men with nonobstructive azoospermia

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2015年第3期17卷 459-470页

作者： Sandro C Esteves ANDROFERT Center for Male Reproduction Campinas 13075-460 Brazil

The clinical management of men with nonobstructive azoospermia （NOA） seeking fertility has been a challenge for andrologists, urologists, and reproductive medicine specialists alike. This review presents a personal perspective on the clinical management of NOA, including the lessons learned over 15 years dealing with this male infertility condition. A five-consecutive-step algorithm is proposed to manage such patients. First, a differential diagnosis of azoospermia is made to confirm/establish that NOA is due to spermatogenic failure. Second, genetic testing is carried out not only to detect the males in whom NOA is caused by microdeletions of the long arm of the Y chromosome, but also to counsel the affected patients about their chances of having success in sperm retrieval. Third, it is determined whether any intervention prior to a surgical retrieval attempt may be used to increase sperm production. Fourth, the most effective and efficient retrieval method is selected to search for testicular sperm. Lastly, state-of-art laboratory techniques are applied in the handling of retrieved gametes and cultivating the embryos resulting from sperm injections. A coordinated multidisciplinary effort is key to offer the best possible chance of achieving a biological offspring to males with NOA.

关键词： intracytoplasmic sperm injection male infertility nonobstructive azoospermia pregnancy outcome sperm retrieval spermatogenic failure

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2012年第5期14卷 676-682页

作者： Peter J Stahl Anna N Mielnik Christopher E Barbieri Peter N Schlegel Darius A Paduch Department of Urology Weill Cornell Medical CollegeNew York Presbyterian HospitaI-CornellNew YorkNY 10065USA

Maturation arrest （MA） refers to failure of germ cell development leading to clinical nonobstructive azoospermia. Although the azoospermic factor （AZF） region of the human Y chromosome is clearly implicated in some cases, thus far very little is known about which individual Y-chromosome genes are important for complete male germ cell development. We sought to identify single genes on the Y chromosome that may be implicated in the pathogenesis of nonobstructive azoospermia associated with MA in the American population. Genotype-phenotype analysis of 132 men with Y-chromosome microdeletions was performed. Protein-coding genes associated with MA were identified by visual analysis of a genotype-phenotype map. Genes associated with MA were selected as those genes within a segment of the Y chromosome that, when completely or partially deleted, were always associated with MA and absence of retrievable testicular sperm. Expression of each identified gene transcript was then measured with quantitative RT-PCR in testicular tissue from separate cohorts of patients with idiopathic MA and obstructive azoospermia. Ten candidate genes for association with MA were identified within an 8.4-Mb segment of the Y chromosome overlapping the AZFb region. CDY2and HSFYwere the only identified genes for which differences in expression were observed between the MA and obstructive azoospermia cohorts. Men with obstructive azoospermia had 12-fold higher relative expression of CDY2transcript （1.33__.0.40 vs. 0.11＋_0.04; P=O.O003） and 16-fold higher expression of HSFYtranscript （0.78__.0.32 vs. 0.05_0.02; P=O.O005） compared to men with MA. CDY2 and HSFYwere also underexpressed in patients with Sertoli cell only syndrome. These data indicate that CDY2and HSFYare located within a segment of the Y chromosome that is important for sperm maturation, and are underexpressed in testicular tissue derived from men with MA. These observations suggest that impairments in CDY2 or HSFYexpression could be implicated in the pathogenesis of MA.

关键词： CDY1 protein CDY2 protein genetics histology HSFY human make infertility nonobstructive azoospermia spermato-genesis sperm maturation

Mutational analysis of the GATA4 gene in Chinese men with nonobstructive azoospermia

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Asian Journal of Andrology 2021年第2期23卷 205-210页

作者： Xu Zhang Tai-Jian Zhang Wen Liu Yun-Na Ning Yue-Hong Bian Yong-Zhi Cao Hong-Bin Liu Jin-Long Ma Hao-Bo Zhang Center for Reproductive Medicine Cheeloo College of MedicineShandong UniversityJinan 250012China National Research Centre for Assisted Reproductive Technology and Reproductive Genetics Shandong UniversityJinan 250012China Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology School of Life SciencesShandong UniversityQingdao 266237China

As a crucial transcription factor for spermatogenesis,GATA-binding protein 4(GATA4)plays important roles in the functioning of Sertoli and Leydig cells.Conditional knockout of GATA4 in mice results in age-dependent testicular atrophy and loss of fertility.However,whether GATA4 is associated with human azoospermia has not been reported.Herein,we analyzed the GATA4 gene by direct sequencing of samples obtained from 184 Chinese men with idiopathic nonobstructive azoospermia(NOA).We identified a missense mutation(c.191G>A,p.G64E),nine single-nucleotide polymorphisms(SNPs),and one rare variant(c.^(*)84C>T)in the 3′untranslated region(UTR).Functional studies demonstrated that the p.G64E mutation did not affect transactivation ability of GATA4 for spermatogenesis-related genes(claudin-11 and steroidogenic acute regulatory protein,Star),and the 3′UTR rare variant c.^(*)84C>T did not generate microRNA-binding sites to repress GATA4 expression.To our knowledge,this is the first report to investigate the association between GATA4 and azoospermia;our results indicate that mutations in GATA4 may not be pathogenic for NOA in Chinese men.

关键词： biological function GATA-binding protein 4(GATA4)mutation nonobstructive azoospermia