Preliminary study of letrozole use for improving spermatogenesis in non-obstructive azoospermia patients with normal serum FSH

We investigated whether letrozole （2.5 mg day-1） improves sperm count in non-obstructive azoospermia （NOA） patients. Four men were included in this study, and they had folliculo-stimulating hormone and other hormone levels within the normal range and no varicoceles or chromosomal aberrations. These four patients were administered letrozole for 3 months. Sperm count, testicular volume, gonadotropin, testosterone （T） and estradiol （E2） blood levels were assessed before, during and 1 week after the suspension of treatment. All patients showed spermatozoa in their ejaculate, increased gonadotropin and T levels and lower E2 levels （P〈0.05 in all cases）, when letrozole was administered. This suggests that letrozole treatment might improve sperm count in an NOA sub-population; however, more studies, including the proper controls, are needed to confirm its efficacy.

Outcome of repeated micro-surgical testicular sperm extraction in patients with non-obstructive azoospermia

Aim： To evaluate the outcome of repetitive micro-surgical testicular sperm extraction （mTESE） attempts in non-obstructive azoospermia （NOA） cases, in relation to patients＇ initial testicular histology results. Methods： A total of 68 patients with NOA in whom mTESE had been performed in previous intracytoplasmic sperm injection （ICSI） attempts were reviewed. Results： Among the 68 patients with NOA, the first mTESE yielded mature sperm for ICSI in 44 （64%） （Sp^＋）, and failed in the remaining 24 （36%） （Sp^-）. Following their first trial, 24 patients decided to undergo a second mTESE. Of these 24 patients, no spermatozoa were obtained in 5 patients, and Sp^＋ but no fertilization/pregnancy were achieved in 19. In these 24 cases, mTESE was successively repeated for two （n = 24）, three （n = 4） and four （n = 1） times. The second attempt yielded mature sperm in 3/5 patients from the Sp group and 16/19 patients from the Sp^＋ group. At the third and fourth trials, 4/4 and 1/1 of the original Sp^＋ patients were Sp^＋ again, respectively. Distribution of main testicular histology included Sertoli cell-only syndrome （16%）, maturation arrest （22%）, hypospermatogenesis （21%） and focal spermatogenesis （41%）. Overall, in repetitive mTESE, 24/29 （82%） of the attempts were finally Sp^＋. Conclusion： Repeated mTESE in patients with NOA is a feasible option, yielding considerably high sperm recovery rate. In patients with NOA, mTESE may safely be repeated one or more times to increase sperm retrieval rate, as well as to increase the chance of retrieving fresh spermatozoa to enable ICSI.

A susceptibility locus rs7099208 is associated with non-obstructive azoospermia via reduction in the expression of FAM160B1

Non-obstructive azoospermia （NOA） is a severe defect in male reproductive health that occurs in 1% of adult men. In a previous study, we identified that rs7099208 is located within the last intron of FAM160B1 at 10q25.3. In this study, we analysed expression Quantitative Trait Loci （eQTL） of FAM16OB1, ABLIM1 and TRUB1, the three genes surrounding rs7099208. Only the expression level of FAM16OB1 was reduced for the homozygous alternate genotype （GG） of rs7099208, but not for the homozygous reference or heterozygous geno- types. FAM160B1 is predominantly expressed in human testes, where it is found in spermatocytes and round sper- matids. From 17 patients with NOA and five with obstructive azoospermia （OA）, immunohistochemistry revealed that expression of FAM160B1 is reduced, or undetectable in NOA patients, but not in OA cases or normal men. We conclude that rs7099208 is associated with NOA via a reduction in the expression of FAM160B1.

Testicular fine needle aspiration for sperm retrieval in non-obstructive azoospermia

Objective: To investigate the feasibility of obtaining mature spermatozoa for intracytoplasmic sperm injection (ICSI) by testicular fine needle aspiration (TEFNA) in men diagnosed non-obstructive azoospermia. Methods: TEFNA was performed in 121 patients with a mean of 15 punctures and aspirations from each testis with a #23 butterfly needle connected to a 20 mL syringe with an aspiration handle. Results: One hundred and twenty-one patients underwent 176 TEFNA cycles. Testicular sperm were recovered in 56.3 % (99/176) cycles from 57 % (69/121) of patients. The sperm recovery rate was 46.7 % (21/45) in patients with Sertoli cell-only syndrome, 45.7 % (16/35) in patients with maturation arrest, 96.1 % (25/26) in patients with hypospermatogenesis and 63.6 % (7/11) in patients of non-mosaic Klinefelter's syndrome as judged by testicular histology. No sperm were found in 3 cases with post-irradiation fibrosis and one, after resection and chemotherapy of unilateral testicular cancer. In 87 cycles of ICSI using the husbands' sperm, 591 mature oocytes were injected, 218 (36.9 %) were normally fertilized and 202 embryos developed; 178 were transferred in 62 cycles resulting in 26 pregnancies (41.9 %) with 44 gestational sacs (implantation rate: 24.7 %). Conclusion: TEFNA was an efficient, easy to learn, safe and well tolerated treatment in patients with non-obstructive azoospermia.

Combined evaluation of inhibin B, follicle stimulating hormone and luteinizing hormone improve sperm retrieval prediction in patients with non-obstructive azoospermia

Introduction: Non-invasive methods that can predict sperm recovery in patients with non-obstructive azoospermia (NOA) arouse interest of clinicians. The aim of this study was to evaluate the predictive value of sperm retrieval in NOA. Materials and Methods: In the retrospective study, fine needle aspiration (FNA) was performed on 306 patients with NOA at the department of andrology, Wuhan Tongji Reproductive Medical Hospital. Inhibin B, FSH and LH plasma levels were analyzed and sperms were retrieved in 67 of 306 cases (21.89%). Results: There were statistically significant differences between successful and unsuccessful sperm recoverygroups in terms of mean serum inhibin B, FSH and LH levels. The areas under the curve (AUC) of inhibin B, FSH and LH were 0.696, 0.729 and 0.747 respectively, and the AUC for the combined value of the three hormones is 0.832. The cut-off points were 27.31 pg/ml, 11.68 IU/L and 4.04 IU/L for inhibin B, FSH and LH respectively. Conclusions: This study suggests that the combined evaluation of inhibin B, FSH and LH is a more effective predictor for successful sperm retrieval in patients with NOA before decision making of an invasive procedure than any single factor.

Research progress of real-time sonoelastography to evaluate testicular spermatogenic function in non-obstructive azoospermia

Objective: The azoospermia is increasingly becoming prevalent year by year,which has been plaguing a great number of infertile couples. Testes biopsy is a gold index to evaluate the testicular spermatogenesis in patients with anspermia. However, it is more invasive and may not accurately reflect the whole spermatogenic function of the testes. In recent years, with the continuous development of ultrasound and assisted reproductive technology, real-time sonoelastography has been widely applied in the evaluation of spermatogenic function in patients with azoospermia. It is still at the initial stage, but shows good application prospects. In this paper, we will summarize and review the present status of male infertility and the clinical application and research progress of real-time sonoelastography in the evaluation of the testicular spermatogenic function of non-obstructive azoospermia patients.

The number of spermatozoa collected with testicular sperm extraction is a novel predictor of intracytoplasmic sperm injection outcome in non-obstructive azoospermic patients

The purpose of this study was to determine the relationships between monitors of spermatogenesis and predictors of the intracytoplasmic sperm injection （ICSI） outcome in patients with non-obstructive azoospermia （NOA） undergoing testicular sperm extraction （TESE）. Seventy-nine patients with NOA （mean age： 43.6±5.2 years）, each of whom yielded （97 000±3040） spermatozoa with conventional TESE, were considered in our analysis. Their partners （mean age： 35.8±5.1 years） underwent a total of 184 ICSI cycles; 632 oocytes were collected, 221 oocytes were injected, 141 oocytes were fertilized, 121 embryos were obtained, 110 embryos were transferred, 14 clinical pregnancies were achieved and only one miscarriage occurred. Multivariate regression analysis indicated relationships between the percentage of fertilized oocytes, transferred embryos and clinical pregnancies with the following variable values： female partner＇s age, number of spermatozoa collected, testicular volume, male partner＇s levels of follicle stimulating hormone （FSH）, number of oocytes collected, number of oocytes injected and number of ICSI cycles. A significant inverse relationship was found between female partner＇s age or male partner＇s FSH levels and biochemical pregnancies. A significant direct relationship emerged between the number of ICS! cycles and the percentage of oocytes fertilized, embryos transferred and biochemical pregnancies, and between the number of spermatozoa collected per testicular biopsy and biochemical pregnancies. The number of spermatozoa was positively linked to the number of clinical pregnancies, independent of the number of ICSI cycles and the number of oocytes collected/injected. The number of spermatozoa collected, FSH level and testicular volume are monitors of spermatogenesis linked to ICSI success.

Laboratory and Clinical Outcomes of Single Sperm Cryopreservation in Patients Underwent Micro-TESE

For men with severe oligozoospermia, sperm cryopreservation can preserve surgically obtained sperm. How to cryopreserve single sperm in men is still a hot topic in assisted reproduction technology. Aim to analyze the laboratory and pregnancy outcomes of single sperm cryopreservation group, we retrospectively selected 38 cycles underwent single sperm cryopreservation and thawing as the study group and 618 cycles underwent conventional sperm cryopreservation and thawing as the control group, which were performed in the reproductive medicine center of the Sixth Affiliated Hospital, Sun Yatsen University, from April 2014 to October 2023. All the sperm came from microdissection testicular sperm extraction (micro-TESE), and performed intracytoplasmic sperm injection (ICSI) for fertilization. Zygotes were cultured to Day 3 embryo, which were freshly transferred to female uterus. Surplus embryos were cultured to blastosphere and cryopreserved. There was no statistical difference in female/male age, female BMI, infertility duration and female basal sex hormone (FSH, LH E2, AMH), No. of oocytes retrieved per cycle, No. of ICSI oocytes per cycle and No. of embryos transferred per cycle between the two groups (P > 0.05). No significant difference was found in two-pronuclear oocyte fertilization rate (59.23% VS 58.84%), Day 3 available embryo rate (61.81% VS 63.55%), Day 3 good-quality embryo rate (45.73% VS 50.27%), blastocyst formation rate (47.83% VS 49.46%), the implantation rate (47.37% VS 52.16%), clinical pregnancy rate (36.84% VS 47.18%), miscarriage rate (14.29% VS 12.68%) and live birth rate (85.71% VS 81.70%) between two groups (P > 0.05). In conclusion, single-sperm cryopreservation was the optimal method to preserve sperm after micro-TESE. It can increase the utilization of each sperm and lead to clinical pregnancy.

RNAs in the testicular tissue of patients with non-obstructive azoospermia

Circular RNAs(circRNAs)are highly conserved and ubiquitously expressed noncoding RNAs that participate in multiple reproductionrelated diseases.However,the expression pattern and potential functions of circRNAs in the testes of patients with non-obstructive azoospermia(NOA)remain elusive.In this study,according to a circRNA array,a total of 37881 circRNAs were identified that were differentially expressed in the testes of NOA patients compared with normal controls,including 19874 upregulated circRNAs and 18007 downregulated circRNAs.Using quantitative real-time polymerase chain reaction(qRT-PCR)analysis,we confirmed that the change tendency of some specific circRNAs,including hsa_circ_0137890,hsa_circ_0136298,and hsa_circ_0007273,was consistent with the microarray data in another larger sample.The structures and characteristics of these circRNAs were confirmed by Sanger sequencing,and fluorescence in situ hybridization revealed that these circRNAs were primarily expressed in the cytoplasm.Bioinformatics analysis was used to construct the competing endogenous RNA(ceRNA)network,and numerous miRNAs that could be paired with circRNAs validated in this study were reported to be vital for spermatogenesis regulation.Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses indicated that genes involved in axoneme assembly,microtubule-based processes,and cell proliferation were significantly enriched.Our data suggest that there are aberrantly expressed circRNA profiles in patients with NOA and that these circRNAs may help identify key diagnostic and therapeutic molecular biomarkers forNoA patients.

显微镜下睾丸切开取精术在非梗阻性无精子症治疗中的应用

目的探究显微镜下睾丸切开取精术在非梗阻性无精子症(NOA)治疗中的应用。方法选择我院收治的84例NOA患者为研究对象,均经精液离心检查后确定精液中无精子并行显微镜下睾丸切开取精术,分析显微镜下睾丸切开取精术在NOA治疗中的应用效果。结果手术后,患者体内的黄体生成素(LH)及血清卵泡刺激素(FSH)水平显著高于手术前,总睾酮(TT)显著低于手术前(P<0.05)。手术后,患者的国际勃起功能指数-5(IIEF-5)评分显著低于手术前,汉密顿焦虑量表(HAMA)评分显著高于手术前(P<0.05)。结论显微镜下睾丸切开取精术对NOA患者术后性功能、性激素水平以及心理状况均有显著影响,临床治疗在行该术时应针对上述问题进行处理,尽可能降低该术对患者的影响。

精子发生障碍的遗传学研究进展

育龄人群中约15%的夫妻被不孕不育困扰,其中男方因素导致的不孕不育约占50%。男性不育通常由精子发生障碍导致,呈现为少、弱、畸形精子症,最严重的是无精子症。本文以精子发生障碍为主线,重点综述了非梗阻性无精子症和畸形精子症的遗传学病因研究。近年来,随着高通量芯片和测序技术的快速发展,无精子症和畸形精子症的遗传学因素得以深入的揭示与解析。围绕无精子症,全基因组关联研究与高通量测序研究揭示了一批非梗阻性无精子症的风险位点和致病基因;围绕畸形精子症,全外显子测序等研究鉴定了一系列致病基因,极大地丰富了精子鞭毛多发性形态异常等精子畸形的遗传学病因。大量致病基因的发现,促进了男性不育病理机制的阐明。全面而深入地了解精子发生障碍中的遗传因素,对男性不育的诊断、临床治疗和遗传咨询具有重要的意义。

不同病因非梗阻性无精子症患者睾丸显微取精获精率的初步研究

目的初步探讨不同病因非梗阻性无精子症患者睾丸显微取精的获精率。方法选取2018年1月至2019年5月山东大学生殖医学研究中心完成睾丸显微取精的67例非梗阻性无精子症患者进行回顾性分析。统计分析获精率与患者年龄、睾丸体积、生殖内分泌激素水平、不同病因的相关性。结果睾丸显微取精术总体获精率为40.30%(27/67),按照手术是否获取精子,分为未获精组(n=40)与获精组(n=27),两组患者在年龄、睾丸体积、生殖内分泌激素水平比较,差异无统计学意义(P>0.05);按照不同病因分为六组:获精率分别为腮腺炎合并睾丸炎后组100.00%(7/7)、隐睾下降固定术后组42.86%(3/7)、AZFc缺失组37.5%(3/8)、克氏综合征组36.36%(4/11)、特发性无精子症组30.30%(10/33)和低促性腺激素型性腺功能减退综合征组0%(0/1),不同病因之间整体比较,差异具有统计学意义(P<0.05),六组间,腮腺炎合并睾丸炎后组与特发性无精子症组之间比较,差异具有统计学意义(P=0.001),其余各组间比较,差异无统计学意义(P>0.05)。结论睾丸显微取精术是治疗非梗阻性无精子症的一种有效手段,获精率与年龄、睾丸体积、生殖内分泌激素水平无明显相关性,不同病因的非梗阻性无精子症之间,获精率存在显著差异,腮腺炎合并睾丸炎后的患者较特发性无精子症患者有更高的获精率。

Microdissection testicular sperm extraction： an update

Patients with non-obstructive azoospermia （NOA） were once considered to be infertile with few treatment options due to the absence of sperm in the ejaculate. In the last two decades, the advent of intracytoplasmic sperm injection （ICSI）, and the application of various testicular sperm retrieval techniques, including fine needle aspiration （FNA）, conventional testicular sperm extraction （TESE） and microdissection testicular sperm extraction （micro-TESE） have revolutionized treatment in this group of men. Because most men with NOA will have isolated regions of spermatogenesis within the testis, studies have illustrated that sperm can be retrieved in most men with NOA, including Klinefelter＇s syndrome （KS）, prior history of chemotherapy and cryptorchidism. Micro-TESE, when compared with conventional TESE has a higher sperm retrieval rate （SRR） with fewer postoperative complications and negative effects on testicular function. In this article, we will compare the efficacy of the different procedures of sperm extraction, discuss the medical treatment and the role of testosterone optimization in men with NOA and describe the micro-TESE surgical technique. Furthermore, we will update our overall experience to allow counseling on the prognosis of sperm retrieval for the specific subsets of NOA.

Testis sperm extraction

The last 20 years have produced developments in the treatment for patients with non-obstructive azoospermia(NOA)who were once considered to be infertile.The combination of intracytoplasmic sperm injection together with various testicular sperm retrieval techniques,including conventional testicular sperm extraction(TESE),microdissection TESE(micro-TESE)and fine needle aspiration(FNA),have revolutionized treatment for these men.In men with NOA,isolated regions of spermatogenesis within the testis are common.The goal for all types of sperm retrieval procedures is locating the focal region(s)of spermatogenesis,and harvesting the sperm for assisted reproduction.This review article explores the surgical management of men with NOA and describes all techniques that can be used for testicular sperm retrieval.A PubMed search was conducted using the key words:“sperm extraction”,“NOA”,“testicular FNA”,“testicular mapping”,“TESE”,and“testicular biopsy”.All articles were reviewed.Articles were included if they provided data on sperm retrieval rates.The methods for performing sperm retrieval rates and outcomes of the various techniques are outlined.Micro-TESE has a higher sperm retrieval rates with fewer postoperative complications and negative effects on testicular function compared with conventional TESE.

Proposed age-stratified reference intervals of FSH derived from normozoospermic men

Objective:To demonstrate that serum follicle-stimulating hormone(FSH)in men rises with age,and to explore FSH reference intervals of age-related partitioning.Methods:Men aged 20-50 years(n=1190)underwent semen analysis according to World Health Organization(2010)methods.Serum was frozen prior to measurement of FSH by using the Siemens ADVIA Centaur®XP immunoassay system.FSH central 95%intervals after logarithmic transformation based on age were derived from 1037 normozoospermic men.These were then applied to oligozoospermic and azoospermic men.Men producing azoospermic semen samples were further classified as having non-obstructive azoospermia by clinical diagnostic criteria,including genetic analysis and surgical exploration.Results:Serum FSH in normozoospermic men increased with age(P<0.05),and reference intervals were determined with 10-year brackets:21-30 years[(1.0-8.2)IU/L],31-40 years[(1.4-9.5)IU/L],41-50 years[(1.9-12.0)IU/L].The proportion of oligozoospermic men with normal FSH concentrations was less than the normozoospermic men,which in turn was lower among azoospermic men(both P<0.01).The azoospermic men were further broken down according to the nature of the azoospermia as either obstructive or non-obstructive azoospermia,and 86.4%(38/44)men with non-obstructive azoospermia had elevated serum FSH concentrations whereas only 6.7%(1/15)men with obstructive azoospermia had high FSH levels,and this was significantly different(P<0.01).Conclusions:FSH concentrations increase in men between 20-50 years,and clinical interpretation of serum FSH results in men must be made by using age-based reference intervals.

非梗阻性无精子症和隐匿精子症与睾丸体积、血FSH和AZF基因微缺失的相关性分析

目的:探讨非梗阻性无精子症和隐匿精子症与睾丸体积、血FSH和AZF基因微缺失的相关性。方法:161例男性不育患者分为非梗阻性无精子症(A组,n=86)、隐匿精子症(B组,n=49)、严重少精子症(C组,n=13)和其它患者(D组,n=13,包括死精子症4例,梗阻性无精子症3例,正常精子1例,其他少弱精子症5例),进行睾丸体积、血FSH水平和AZF基因微缺失检测,AZF基因微缺失检测位点包括AZFa(sY84、sY86)、AZFb(sY127、sY134)、AZFcd(sY254、sY255、sY157、sY145和sY152)。结果:4组睾丸体积<12 ml的比例分别为73.26%(63/86)、34.69%(17/49)、7.69%(1/13)、30.77%(4/13);4组FSH水平升高1倍以上的比例分别为67.44%(58/86)、32.65%(16/49)、15.38%(2/13)和0.00%(0/13),组间均有极显著统计学差异(P<0.001);4组AZF基因微缺失率分别为15.12%(13/86)、18.37%(9/49)、0.00%(0/13)和0.00%(0/13),组间均无统计学差异(P>0.05),其中A组AZFa基因缺失1例,AZF(b+c+d)缺失5例,AZF(c+d)基因缺失7例,B组9例均为AZFc和(或)AZFd基因缺失,C组和D组均未见AZF基因缺失。结论:随着生精功能障碍程度的加重,血FSH水平升高和睾丸体积缩小趋势明显,而与AZF缺失几率无高度相关性;但在非梗阻性无精子症和隐匿精子症组中AZF基因缺失几率仍然偏高,AZFa和AZFb缺失大多出现在非梗阻性无精子症组中,而隐匿精子症组以AZFc和AZFd缺失为主。

无精子症患者睾丸系统针吸检查与组织病理检查的关系

目的探讨将睾丸系统针吸检查(SFNA)与组织病理检查相结合来预测睾丸中精子存在的可能性。方法67例无精子症患者先接受睾丸切开活检术及组织病理学检查,根据活检结果将患者分为梗阻性和非梗阻性无精子症(NOA),然后进行睾丸系统针吸检查及湿片镜检来发现精子的存在。结果67例患者中梗阻性无精子症12例,非梗阻性无精子症55例。所有患者的睾丸组织病理类型分为以下几种:正常精子生成、精子生成低下、生精阻滞、唯支持细胞综合征和混合型损害。行睾丸SFNA后,49％的NOA患者中发现精子,其中组织病理类型为精子生成低下的患者具有最高的精子获取率(95％)。结论对于无精子症患者而言,睾丸系统针吸检查是在睾丸中检测精子存在的有效方法;通过该方法检测到精子的可能性与睾丸组织病理类型有密切关系。

非梗阻性无精子症患者采用睾丸显微取精术联合睾丸组织混悬液冷冻的临床效果

目的探讨睾丸显微取精术(micro-TESE)联合睾丸组织混悬液冷冻治疗不同病理类型的非梗阻性无精子症(non-obstructive azoospermia,NOA)行卵胞质内单精子显微注射(intracytoplasmic sperm injection,ICSI)的临床结局。方法回顾性分析2016年3月—2017年3月期间本中心经MicroTESE手术获取精子并进行睾丸组织混悬液冷冻的NOA患者的ICSI结局。结果 70例NOA患者中,micro-TESE获得精子30例(42.9%)。睾丸生精细胞成熟阻滞者(maturation arrest,MA)的获精率(sperm retrieval rate,SRR)显著低于生精功能低下者(hypo-spermatogenesis,H-S),差异有统计学意义(P=0.00),但同唯支持细胞综合征(Sertoli cell only syndrome,SCOS)比较,差异无统计学意义(P=0.64)。而早期睾丸生精细胞成熟阻滞(early MA)的SRR[20.8%(5/24)]低于晚期生精细胞成熟阻滞(late MA)[43.8%(7/16)]。30例睾丸组织混悬液解冻行ICSI注射,临床妊娠率为46.7%(14/30)。其中,MA组临床妊娠率为41.7%(5/12);H-S组临床妊娠率为47.1%(8/17);SCOS组1例行ICSI后临床妊娠。结论在辅助生殖技术中,睾丸显微取精术联合睾丸组织混悬液冷冻治疗NOA患者,临床结果满意。

精液细胞DNA倍体分析结合生精细胞检查鉴别梗阻性与非梗阻性无精子症

目的:拟通过比较梗阻(OA)和非梗阻性无精子(NOA)症患者精液细胞DNA倍体分析与细胞学检查结果的特点,以期建立一种无创的诊疗方案以鉴别OA与NOA。方法:NOA患者20例和OA患者10例,按照WHO方法进行精液分析诊断,获取其精液标本,液化后离心取沉淀物,1份采用体积分数70%冰乙醇重悬精液沉淀,4℃固定后用PI染色,采用流式细胞仪进行DNA倍体分析。同时,取另1份精液沉淀涂片,进行Diff-Quick染色和免疫细胞化学染色。结果:DNA倍体分析结果表明,20例NOA患者精液中均存在单倍体(1N)、二倍体(2N)和四倍体(4N)细胞,其中2N细胞含量最高,约占71.25±8.73%。1N细胞的百分比含量为5.46±2.93%,4N细胞含量为3.28±2.54%。10例OA患者精液中有8例只存在2N细胞,含量为71.67±13.09%,未检测到1N和4N,2例未检测到各种倍体细胞。精液细胞学检查结果表明,20例NOA患者中有15例患者精液中可检测出生精细胞,5例患者精液中未检出生精细胞。10例OA患者精液中均未检出生精细胞,其中2例没有任何细胞。结论:精液细胞DNA倍体分析与细胞学检查作为2种无创的检查方法,均可作为评估患者生精功能的辅助诊疗手段,两者结合可作为鉴别OA和NOA的辅助诊断指标。

转录因子Ets差异基因5(ETV5)基因多态性与非梗阻性无精子症相关性研究

目的:探讨转录因子Ets差异基因5(ETV5)基因多态性与非梗阻性无精子症的易感性的相关性。方法:应用Sequenom MassArray质谱阵列技术对368例已生育的汉族男性人群(对照组)和361例汉族男性非梗阻性无精子症(病例组)ETV5基因的5个标签单核苷酸多态(single nucleotide polymorphism,SNP)位点(rs12631658,rs6444106,rs7430047,rs7433760,rs9824882)进行基因型检测。应用Plink1.07软件对数据资料进行统计分析,比较对照组与病例组最小等位基因频率(MAF)及基因型差异,运用Haploview软件对ETV5基因进行单体型分析。结果:ETV5基因5个标签SNP的等位基因频率、基因型分布组间比较均无统计学差异(P>0.05),进一步的单体型分析亦未显示有统计学差异(P>0.05)。结论:ETV5基因5个标签SNP位点多态性与汉族男性非梗阻性无精子症的发生可能不相关。