Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions

We investigated whether the presence of Y chromosome azoospermia factor (AZF) microdeletions impacts upon the outcomes of intracytoplasmic sperm injection (ICSI) using fresh ejaculated spermatozoa. Sixteen oligozoospermia patients with Y chromosome AZFb or AZFc microdeletions and undergoing ICSI cycles between March 2013 and November 2014 were studied. Twenty‐six infertile men with normal Y chromosomes and also undergoing IVF/ICSI in the same time period were used as controls. A retrospective case–control study approach was used. Among the 16 cases, 12 (75%, 12/16) had deletions of AZFc markers (sY152, sY254 and sY255), one (6.25%, 1/16) had a deletion of sY152, and two (12.5%, 2/16) had deletions of sY152, sY254, sY255 and sY157. AZFb microdeletions were found in one patient (6.25%, 1/16). There were no significant differences between groups for cleaved embryo rate, high‐grade embryo rate, blastocyst formation rate, embryo implantation rate, clinical pregnancy rate and delivery rate. The clinical outcomes of ICSI for oligozoospermic patients with Y chromosome AZF microdeletion are comparable to those of infertile patients with normal Y chromosomes. Our findings indicate that ICSI should be offered to patients with an AZFc deletion and that oligozoospermia patients with AZFb microdeletions are likely to father children.     

Histology and sperm retrieval among men with Y chromosome microdeletions

In this review of Y chromosome microdeletions, azoospermia factor (AZF) deletion subtypes, histological features and microTESE sperm retrieval rates are summarized after a systematic literature review. PubMed was searched and papers were identified using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Approximately half of infertile couples have a male factor contributing to their infertility. One of the most common genetic etiologies are Y chromosome microdeletions. Men with Y chromosome microdeletions may have rare sperm available in the ejaculate or undergo surgical sperm retrieval and subsequent intracytoplasmic sperm injection to produce offspring. Azoospermia or severe oligozoospermia are the most common semen analysis findings found in men with Y chromosome microdeletions, associated with impaired spermatogenesis. Men with complete deletions of azoospermia factor a, b, or a combination of any loci have severely impaired spermatogenesis and are nearly always azoospermic with no sperm retrievable from the testis. Deletions of the azoospermia factor c or d often have sperm production and the highest likelihood of a successful sperm retrieval. In men with AZFc deletions, histologically, 46% of men demonstrate Sertoli cell only syndrome on biopsy, whereas 38.2% have maturation arrest and 15.7% have hypospermatogenesis. The microTESE sperm retrieval rates in AZFc-deleted men range from 13-100% based on the 32 studies analyzed, with a mean sperm retrieval rate of 47%.     

1052例Y染色体微缺失检测及14例微缺失家系调查

目的:通过对不育患者进行Y染色体微缺失筛查以及部分微缺失患者的家系追踪调查,探讨Y染色体微缺失父子间的自然垂直遗传特点。方法:对1 052例患者进行Y染色体无精子因子(AZF)检测,并对12例AZFc缺失患者,1例AZFb和1例AZFb+c缺失患者进行家系追踪调查,绘制AZF缺失患者男性直系家族成员男性不育家系系谱图。结果:1 052例患者,共发现Y染色体微缺失89例,其中AZFc缺失56例,AZFa缺失6例,AZFb缺失5例,AZFb+c缺失14例,AZFa+b+c缺失8例。在追踪调查的AZF缺失家系中,AZFb和AZFb+c仅先证者存在缺失,12例AZFc缺失患者中5例重度少精子症患者存在家族垂直遗传,另外1例重度少精子症患者和6例无精子症患者家系中除先证者有缺失外,其家系成员未发现缺失。结论:通过对Y染色体微缺失患者进一步的家系调查发现,仅重度少精子症的AZFc缺失患者可能由父亲垂直遗传而来,但与父系表型有差异。对AZF缺失的无精子症患者,无论何种缺失类型,由父亲垂直遗传而来的可能都不大。     

Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China

Azoospermia factor (AZF) microdeletions are the most frequent genetic cause of male infertility after Klinefelter's syndrome. Although some assisted reproductive techniques such as intracytoplasmic sperm injection (ICSI) have been successfully introduced to clinical treatment for infertile males, the AZF microdeletions might be transmitted from infertile fathers to their male offspring during these procedures. Thus, it is important to carefully evaluate AZF microdeletions in infertile males before assisted reproductive techniques are performed. In this article, we aimed to investigate the frequencies of AZF microdeletions in 137 infertile males with azoospermia and severe oligozoospermia from Jilin province of China and analyse the relationship between the levels of reproductive hormones and AZF microdeletions. Result analysis showed that AZF microdeletions were present in 8 (8.70%) azoospermic males and 3 (6.67%) severely oligozoospermic males. The most frequent microdeletions were detected in the AZFc region, followed by AZFb + c, AZFb and AZFa. And there was no significant correlation between the AZF microdeletion and the levels of reproductive hormones. These findings reinforce the necessity of AZF microdeletion testing among infertile males prior to employment of assisted reproduction techniques in Jilin province of China.     

无精子症和严重少精子症患者AZF/DAZ基因微缺失的分子生物学检测

目的　用分子生物学方法检测无精子症和严重少精子症患者无精子基因 (AZF)AZF/DAZ基因微缺失。　方法　应用聚合酶链反应 (PCR)技术对无精子症 4 7例、严重少精子症 4例进行Y染色体AZFa、AZFb、AZFc/DAZ、SRY的微缺失检测。　结果　 5 1例患者缺失率为 35 .3% (18/ 5 1) ,其中AZFa、AZFb、AZFc的微缺失分别为 4例 (7.8% )、5例 (9.8% )和 4例 (7.8% )。无精子症患者 1例 (1.9% )为AZFa、AZFb的双重缺失 ,2例 (3.9% )为AZFb、AZFc的双重缺失 ;2例 (3.9% )为AZFa、AZFb和AZFc的三重缺失 ;5 1例SRY基因PCR扩增均为阳性。 5例已有生育的正常男性均无AZFa、AZFb、AZFc、SRY的微缺失。　结论　AZF/DAZ(包括AZFa、AZFb、AZFc/DAZ)基因的微缺失是引起无精子和严重少精子导致男性不育的重要原因之一。AZF/DAZ基因微缺失的分子生物学检测对不明原因的不育男性行胞浆内单精子注射 (ICSI)时有指导意义。     

ICSI周期显微取精术治疗13例AZF微缺失致无精子症的临床研究

目的探讨ICSI周期显微镜下睾丸切开取精术在AZF微缺失致无精子症患者中的临床应用价值。方法对2014年1月至2016年4月在我院生殖医学中心男科就诊并接受ICSI周期显微镜下睾丸切开取精术的13例AZF微缺失致无精子症患者的临床资料进行回顾性研究,分析指标主要包括AZF微缺失类型、显微镜下睾丸切开取精术次数、单/双侧睾丸取精、精子获得率、精子可用率、正常受精率、可用胚胎率、优胚率及临床妊娠率。结果 ICSI周期显微镜下睾丸切开取精术的13例AZF微缺失致无精子症患者中,AZF微缺失类型分别为:AZFa区完全缺失1例,AZFc区完全缺失9例,AZFc区部分缺失1例,AZFd区部分缺失1例,AZFc区完全缺失伴AZFd区部分缺失1例。共行ICSI周期显微镜下睾丸切开取精术14例次,其中9例次单侧睾丸取精术,5例次双侧睾丸取精术;精子获得率78.57%,可用率72.73%。行ICSI助孕治疗者的正常受精率61.29%、可用胚胎率71.43%、优胚率40.48%、临床妊娠率57.14%。结论 ICSI周期显微镜下睾丸切开取精术可以使部分AZF微缺失致无精子症患者获得数量足够的精子行ICSI助孕治疗,并能获得良好的正常受精率、可用胚胎率、优胚率及临床妊娠率,是一种有效的治疗方法。     

严重少精子症及非梗阻性无精子症患者Y染色体微缺失分析

目的探讨严重少精子症及非梗阻性无精子症与Y染色体长臂微缺失之间的关系。方法该病例对照研究包括216例严重少精子症、189例非梗阻性无精子症患者及100例精液参数正常的对照。采用多重PCR对Y染色体AZFa、AZFb、AZFc及AZFd区域进行检测。玷果在严重性少精子症患者中,AZF总缺失率为10．65％（23／216）,其中以AZFc区缺失最常见,占缺失的78．26％（18／23）;在非梗阻性无精子症患者中,AZF总缺失率为13．76％（26／189）,其中也以AZFc区缺失最常见,占缺失的57．69％（15／26）;在正常对照中发现1例AZFb缺失,两病例组AZF区缺失分别与对照组相比较均具有显著差异（X^2=9．066,P=0．003;X^2=10．74,P=0．001）。结论通过对Y染色体微缺失的检查可以从基因水平寻找生精障碍的原因以及为优生优育提供可靠的遗传信息依据。     

Molecular genetic analysis of microdeletion on AZF/DAZ gene in patients with idiopathic azoospermia and severe oligozoospermia in Fujian

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).     

Microdeleciones del gen AZF: serie de casos y revisión de la literatura

ObjectiveAproximately 10% of patients with non-obstructive azoospermia and 5% with non-obstructive severe oligozoospermia carry AZF region microdeletions (AZoospermic Factor) in the Y chromosome. The aim of this study is to analize the clinical and pathological findings in this group of patients and compare them with the previous evidence.Material and methodsRetrospective study of 11 patients with diagnosis of azoospermia or oligozoospermia and the presence of AZFa, AZFb, AZFc microdeletions or any combination of them.ResultsMicrodeletions of AZFc region were found in 45% of cases, AZFa in 33% and a 10% showed a deletion of the three regions (a,b and c). 91% of them demonstrated azoospermia with low testicular volume in 62,5% cases.ConclusionMicrodeletions of AZF regions are associated with azoospermia and a low expectation of sperm retrieval in testicular biopsy. On the other hand, they seem not related with significative modifications on the hormone profile.     

Screening of Y chromosome microdeletions in Tunisian infertile men

The aim of this study was to establish the prevalence of Y chromosomal microdeletions in infertile Tunisian men. Three groups of infertile men, 65 normospermic, 53 oligozoospermic and 45 azoospermic, were tested for Yq microdeletions detection by multiplex polymerase chain reaction (PCR) using specific Y chromosome AZF regions tagged site markers (STS). One group of 13 healthy men was used as the control group. Six STS were tested (2 in each AZF region). The general prevalence of AZF microdeletions was 16%; in azoospermia and severe oligospermia groups, it was higher (29% and 30.5%, respectively). Significant differences were found with moderate oligospermic and normospermic groups (p < 0,05). AZFc microdeletions were the most frequent, and 55% of AZFc deleted patients were oligospermic. No deletions were detected in the control group. These results add to the growing literature data, showing that microdeletions of the Y chromosome is an important cause of severe spermatogenetic defect and confirm that deletion in AZFc region is the most common and is compatible with residual spermatogenesis.     

Evaluation of DAZ microdeletions in 34 infertile men

Microdeletions in Yq11 are a common molecular cause of spermatogenic failure in men and are recurrently detected in about 10-15% of idiopathic azoospermia and severe oligozoospermia. Screening for AZF microdeletions is often performed by multiplex PCR. AZFc deletions, involving the DAZ gene, form the majority of these deletions. The aim of this study was to evaluate in a group of 34 Tunisian infertile patients (16 oligozoospermic and 18 azoospermic men) the prevalence of DAZ microdeletions using a rapid molecular strategy: the PCR-DGGE method based on the high degree of homology between the DAZ gene and its autosomally equivalent DAZLA gene. DAZ microdeletions were detected in 8.8% of patients. The three deleted patients have a 46, XY karyotype. Two of them were azoospermic and the other had an extreme oligo-asthenoteratozoospermia with a predominant abnormality: small round head spermatozoa (Y46). Our findings suggest that PCR-DGGE method, for detection of DAZ gene deletion, could be particularly useful as a first step in the diagnosis workup of nonobstructive azoospermia and severe oligozoospermia for three reasons. First, it is a simple and fast system; second, DAZ microdeletions are the most common Y deletions; and third, partial DAZ microdeletions and mosaicism may be recognized by PCR-DGGE while only deletions removing the whole DAZ gene cluster can be detected by STS-PCR [211]. Nevertheless, this procedure has limitations because other deletions of AZFa and AZFb may go undetected. Therefore, molecular investigation by multiplex PCR must be conducted in a second step according to European guidelines for the molecular diagnosis of Y chromosome microdeletions, particularly before ICSI procedures.     

陕西地区不明原因无精子症和少精子症患者Y染色体长臂微缺失分析

目的: 评估陕西地区不明原因无精子症和少精子症不育男性患者Y染色体长臂微缺失的频率,探讨精子密度与Y染色体微缺失发生率的相关性。　方法: 以Y染色体特异性无精子症因子区STS AZFa、AZFb、AZFc和SRY4个基因 5个片段设计引物,采用PCR方法对 64例无精子症和少精子症患者以及 20例正常生育男性进行微缺失检测,并比较不同精子密度患者Y染色体微缺失的发生率。　结果: 20例精子密度正常的生育男性未检出Y染色体微缺失,而 64例特发性无精子症 /少精子症患者AZFc区的缺失率为17. 2% (11 /64),AZFc和AZFb联合缺失 1例,未发现AZFa区缺失,SRY基因均为阳性。其中无精子症组缺失率为21. 43% ( 3 /14 );精子密度 <1×106 /ml组,缺失率为 20. 0% (2 /10);精子密度 (1 ~5)×106 /ml组缺失率为17. 9% (5 /28);精子密度 (5 ~10 )×106 /ml组缺失率为8. 3% (1 /12)。各组缺失率经卡方检验差异有显著性 (χ2 =70. 144,P<0. 005 )。　结论: 无精子症和少精子症不育患者Y染色体AZFc缺失率明显较高,PCR扩增AZF基因是诊断Y染色体微缺失的简单方法。     

Case report. Patient with varicocele & oligozoospermia with Y chromosome microdeletion: AZFb+c

The 13-18% of the couples in reproductive age gets to present some kind of fertility problem, the male factor participates in near 50% of the cases. The microdeletions in the Yq chromosome occupy single the 7,6%; severe oligozoospermia and azoospermia are related with these alterations. The structure of region AZF of Yq is divided in AZFa, AZFb, AZFc and AZFd. The microdeletions can be simple or combined, the microdeletion AZFc (59-65%) is the commonest. In cases with severe oligozoospermia (or azoospermia), study of microdeletions in Y chromosome is suggested. ICSI with selection of sex, would be the treatment adapted in these cases, is in phase of study.     

AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men

Aim： To evaluate for the first time the frequency of Y chromosome microdeletions and the occurrence of the partial deletions of AZFc region in Moroccan men, and to discuss the clinical significance of AZF deletions. Methods： We screened Y chromosome microdeletions and partial deletions of the AZFc region of a consecutive group of infertile men （n = 149） and controls （100 fertile men, 76 normospermic men）. AZFa, AZFb, AZFc and partial deletions of the AZFc region were analyzed by polymerase chain reaction （PCR） according to established protocols. Results： Among the 127 infertile men screened for microdeletion, four subjects were found to have microdeletions： two AZFc deletions and two AZFb＋AZFc deletions. All the deletions were found only in azoospermic subjects （4/48, 8.33%）. The overall AZFc deletion frequency was low （4/127, 3.15%）. AZF microdeletions were not observed in either oligoasthenoteratozoospermia （OATS） or the control. Partial deletions of AZFc （gr/gr） were observed in a total of 7 of the 149 infertile men （4.70%） and 7 partial AZFc deletions （gr/gr） were found in the control group （7/176, 3.98%）. In addition, two b2/b3 deletions were identified in two azoospermic subjects （2/149, 1.34%） but not in the control group. Conclusion： Our results suggest that the frequency of Y chromosome AZF microdeletions is elevated in individuals with severe spermatogenic failure and that gr/gr deletions are not associated with spermatogenic failure.     

Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation-dependent probe amplification

Male infertility is a common and severe problem affecting 7% of population. The main objective of this study is to identify the chromosomal abnormalities, Y microdeletions in infertile men and also to access the frequency of abnormal sperm count. Based on the sperm count and viability, the infertile men were grouped as Azoospermia, Asthenospermia, Oligospermia and the remaining as Idiopathic infertility. A total of 370 infertile men and 60 normal control men were recruited. Chromosomal abnormalities were identified in 3 men (3/370). The prevalence of Y microdeletions in the infertile group is 8/370 in the Azoospermia factor (AZF) region with four AZFc deletion/duplication, two AZFa deletion, one AZF b & AZFc deletion and one case of total AZF a, AZFb & AZFc deletion. However, only five cases of Y microdeletions were identified by Multiplex PCR but an additional three cases by MLPA (Multiplex ligation-dependent probe amplification). Fluorescence in situ hybridisation also confirmed the deletions. Here, we performed MLPA post-multiplex PCR, and our study revealed good yield of the Y microdeletion identification. The partial duplications which are difficult to be identified can now be easily identified by MLPA, and hence, we recommend MLPA as the choice of investigation compared to multiplex PCR for infertile men.     

Screening for microdeletions on the long arm of chromosome Y in 53 infertile men

About 30% of couple infertilities are of male origin. They appear in some cases de novo and are considered idiopathic. The aim of our work was to evaluate, in these cases, the prevalence of microdeletions of the long arm of chromosome Y, within the AZF a, b and c regions using molecular biology techniques. Men with azoospermia or oligozoospermia resulting from hereditary, endocrine or obstructive causes, or with a constitutional cytogenetic abnormality were excluded. Fifty-three infertile men with azoospermia or oligozoospermia, as determined by a spermiogram, were studied. Of these, 34 were idiopathic and 7 exhibited a past history of genital infection or biological abnormalities, suggesting partial obstruction of the genito-urinary tract. A further 8 men had a varicocele and 11 cases with a history of cryptorchidism were also studied. Peripheral blood DNA was extracted from each patient, then amplified by multiplex PCR with STS genomic markers from the three Y chromosome AZF zones. PCR products were then analysed on agarose gels. In view of the difficulty of confirming the absence of a signal in molecular biology, each case suspected of having a deletion was checked by multiplex PCR through coamplification with the SRY marker. Five men with microdeletions of the long arm of the Y chromosome were diagnosed among the 53 patients. All of them included the AZFc zone and the intragenic DAZ gene markers. Furthermore, a larger Y chromosome deletion encompassing the 3 AZF zones was diagnosed, and confirmed by cytogenetic analysis. All Y chromosome microdeletions were observed in the 34 truly idiopathic azoospermia/oligozoospermia cases, corresponding to a proportion of 14.7% (or 9.4% considering the whole population of 53 infertile men). The relatively high proportion of microdeletions found in our series suggests the need for strict patient selection to avoid unnecessary screening for long arm Y chromosome microdeletions.     

精索静脉曲张男性不育患者Y染色体微缺失检测

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。     

男性不育患者Y染色体微缺失液态芯片筛查方法的建立及应用

目的建立一套全新的基因诊断方法,检测Y染色体无精子因子(azoospermia factor,AZF)区域微缺失,并对Y染色体微缺失与男性不育相关性进行初步探讨。方法按照欧洲男科协会和欧洲分子遗传实验质控网检测指南推荐标准,采用多重PCR-液态芯片技术对648例精子发生障碍的患者和100例合格捐精者进行Y染色体微缺失筛查。结果648例精子发生障碍的患者中,发现62例患者存在Y染色体AZF区域微缺失,对应于5种缺失模式AZFa,AZFb,AZFc,AZFb c,AZFa b c。按区域统计,AZFc区域缺失的频率最高,其次是AZFb,AZFa的检出率最低。无精子症患者中微缺失的发生率为12．31％,严重少精子患者中微缺失发生率为5．43％。100例对照组没有发现任何缺失,两组比较,差异显著(P<0．001)。结论男性不育与Y染色体微缺失密切相关,本研究建立的多重PCR方法-液态芯片技术平台,用于男性不育患者的YqAZF区域筛查,结果可靠、快捷、重复性好、通量高。     

Clinical analysis of patients with azoospermia factor deletions by microdissection testicular sperm extraction

Microdeletions of the azoospermia factor (AZF) locus on the Y chromosome have been implicated as a major genetic component of idiopathic male infertility, and the incidence of AZF deletions has been reported to be 15-20% in men with non-obstructive azoospermia (NOA). Numerous studies have described AZF deletion rates in patients with azoospermia; however, a clinical comparison of azoospermic patients with AZF deletion and those with no deletion has not been reported well. A new technique for testicular sperm extraction, microdissection testicular sperm extraction (TESE), has been used widely on NOA patients. Although testicular spermatozoa are reliably detected and retrieved from NOA patients by microdissection TESE, sperm retrieval rates for patients with AZF deletions are not well known. Therefore, characteristics of NOA patients with AZF deletion were investigated. Six of 60 patients (10%) who underwent microdissection TESE were found to have AZF deletions by genomic polymerase chain reaction. Testicular data, outcome of sperm retrieval and endocrinological profiles, were compared between patients with AZF deletions (n = 6) and those with no deletions (n = 54). Testicular size, varicocele rates and testicular histology were similar between the groups. Significant differences were not detected in the endocrinological profiles. Sperm retrieval rates were not significantly different between the groups. In conclusion, AZF deletions do not appear to confer specific characteristics to NOA patients.     

Clinical and pathological correlation of the microdeletion of Y chromosome for the 30 patients with azoospermia and severe oligoasthenospermia

Aim: To review the accumulated 30 patients with different area of Y chromosome microdeletions, focus-ing 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. (Asian JAndrol 2004 Dec; 6:369-375)