AZF Microdeletions Research Articles

Molecular Analysis for Azoospermia Factor Microdeletions in the Y chromosome for Azoospermic and Severe Oligospermic Infertile Iraqi Patients

Defined infertility as incapability of a married couple ta´ have children for the one-year a´f unprotected intercourse. Y chromosomal microdeletions are the second greatest common genetic reason of men sterility. This research aims to find the prevalence of AZF Y chromosome microdeletions in azoospermic and severe oligospermia patients. Further, to evaluate the prevalence types of AZF/c sub-region microdeletions in patients with AZF/c deletion in Iraq. A total of 75 infertile Iraqi males and 25 control were included in this study. The DNA samples were extracted, and they were analysed for AZF microdeletions by utilizing eight sequence-tagged sites through a q/real-time PCR system. After that, partial AZF/c deletion sub-region was investigated using four specific primers. These markers were chosen according to the EAA/ EMGQ recommendations. Out of 75 infertile patients, 46 patients (61.33%) revealed AZF microdeletions in the Y chromosomal with at least one STS deletion for one or more AZF regions. (32.6%) of patients with microdeletions observed in three regions AZFabc. Out of 24 patients who have AZF/c microdeletions (37.5%) were exhibited b2/b4 deletion (complete AZF/c deletions), (58.3%) were showed gr/gr microdeletion (partial AZF/c deletions. and (4.1%) with b2/b4 deletion continues the terminal heterochromatin region. The incidence of classical AZF microdeletions in our study subjects is high. In our study population, gr/gr partial AZF/c microdeletions were higher than b2/b4 complete AZF/c deletion. The mean levels of sex hormones in azoospermic sterile patients with AZF microdeletion were higher than the mean of azoospermic sterile men without deletion of AZF.

High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism.

The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb+c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.

Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions.

The present study investigated the frequency of chromosome aberrations and AZF microdeletions in infertile patients with nonobstructive azoospermia (NOA) or severe oligozoospermia. Additionally, the effect of the AZFc microdeletions on the success of microdissection testicular sperm extraction (microTESE) and intracytoplasmic sperm injection (ICSI) methods were evaluated. Peripheral blood samples were received from 1,300 infertile men with NOA and severe oligozoospermia. Karyotyping and FISH analysis were performed according to standard methods. AZF microdeletions were analysed using multiplex polymerase chain reaction or GML Y-chromosome Microdeletion Detection System consisting of 14 markers. The chromosomal aberrations and the AZF microdeletions frequency among 1,300 infertile men were 10.6% and 4.0% respectively. Either ejaculated spermatozoa or microTESE was performed on only in 19 out of 26 patients with AZFc deletions. Of the 19 patients, four had severe oligozoospermia and 15 had NOA. In eight out of 15 NOA patients, testicular mature spermatozoa were obtained (53.3%) and then ICSI was applied to mature oocytes. After undergoing ICSI treatment, clinical pregnancy and live birth outcome rates were found to be 37.5% and 25% respectively. These results suggest that infertile patients with AZFc microdeletion could achieve successful fertilisation pregnancies with the help of assisted reproductive technology.

MP46-12 CAN SEMEN PARAMETERS PREDICT CHROMOSOMAL ANOMALY IN MALE FACTOR INFERTILITY?

INTRODUCTION AND OBJECTIVES:We aim to investigate the prevalence of chromosomal abnormalities, AZF microdeletions and partial AZFc deletions in male infertility patients, and also to determine clin...

Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome.

The aim of this study was to study the incidence of Y chromosome microdeletions in a Caucasian population of Klinefelter syndrome (KS) patients and to investigate the possible association between Y chromosome microdeletions and KS. We conducted a retrospective study on 118 KS patients, 429 patients with non-obstructive azoospermia (NOA), and 155 normozoospermic men. Eight of the 118 KS patients had undergone testicular sperm extraction (TESE). All patients underwent semen examination and Y chromosome microdeletions evaluated by PCR, using specific sequence tagged site (STS) primer sets, which spanned the azoospermia factor AZFa, AZFb, and AZFc regions of the Y chromosome. Semen analysis of the KS group revealed: 1 patient with oligozoospermia, 1 with severe oligoasthenoteratozoospermia, 2 with cryptozoospermia, and 114 with azoospermia. Eight of the 114 azoospermic KS patients underwent TESE, and spermatozoa were recovered from three of these, all of whom had non-mosaic karyotype 47, XXY. 10.7% of the NOA patients presented AZF microdeletions. In 429 cases with NOA, 8 cases had AZFa + b+c deletion, 6 cases had AZF b + c deletion, 4 cases had AZFa microdeletion, 8 cases had AZFb microdeletion, and 20 cases had AZFc microdeletion. Just one KS patient (0.8%) presented microdeletion in the AZFc region. The percentage of microdeletions in KS patients was lower than in NOA patients, suggesting that AZF microdeletions and KS do not have a causal relationship and that Y chromosome microdeletions are not a genetic factor linked to KS.

Detection of Partial AZFc Microdeletions in Azoospermic Infertile Men Is Not Informative of MicroTESE Outcome.

BackgroundMicrodeletions of the Yq chromosome are among the most frequent genetic etiological factor of male infertility which spans the azoospermia factor regions (AZFa, AZFb and AZFc). Microdeletions are mostly seen in the AZFc region and usually cover genes actively involved in spermatogenesis. Partial AZFc microdeletions may also occur with various spans, namely gr/gr, b2/b3 and b1/b3. It is known that the outcome of microtesticular sperm extraction (TESE), the surgical process for sperm retrieval from the testis in infertile azoospermic men, may be pre- dicted based on the type of AZF microdeletion. We therefore aimed to evaluate the correlation between partial AZFc microdeletions and microTESE results.Materials and MethodsIn this cross-sectional study, 200 infertile azoospermic men referred to the Royan Institute were examined for the presence of partial AZFc microdeletions before undergoing microTESE. Partial AZFc micro- deletions were detected by multiplex polymerase chain reaction (PCR) of seven different sequence-tagged site (STS) markers. The data were analyzed with the Chi-square test.ResultsAmong the 90 patients (45%) with a positive microTESE outcome, 9 (10%) showed a partial microdeletion in AZFc region. Of the 110 (55%) patients with a negative microTESE outcome, 7 (6.3%) had an AZFc partial micro- deletion. With respect to the span of the microdeletions, among the 200 patients, 11 (5.5%) were gr/gr and 5 (2.5%) were b2/b3. Statistical analysis showed no significant difference between the patients with and without partial AZFc microdeletions with respect to microTESE outcome.ConclusionPartial AZFc microdeletions is not a predictor of microTESE outcome in azoospermic men.

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.

BackgroundThe microdeletion events that occur in the Y chromosome-azoospermia factor (AZF) region may lead to dyszoospermia. Also, the deleted azoospermia (DAZ) gene on AZFc and autosomal deleted azoospermia like gene (DAZL) are suggested to represent impairment, so it is interesting to determine the independency pattern of the AZF region and DAZL gene in azoospermic patients.AimTo study the molecular characterization of AZFc and DAZL in 64 idiopathic non-obstructed azoospermia patients and 30 sexually reproductive men.MethodsSYBR Green I (Q-PCR) and AZF-STS analysis was used for DAZ gene, and SNV-PCR and confirmative Sanger sequencing for DAZL gene.ResultsThe present study observed that 15.6% had AZFc microdeletion, out of which 10% had DAZ1/2 deletion, and no T54A variant in the DAZL gene was found.ConclusionIn the current work, the novelty is that spermatogenic impairment phenotype, present with AZFc microdeletions, is independent of the T54A variant in the DAZL gene, and AZFc microdeletions could be a causative agent in spermatogenic impairment.

039 Y-chromosome abnormalities in men with sub-fertility. An analysis of the frequency of abnormalities and determination of a threshold sperm concentration for genetic analysis

Detection of microdeletions of the long arm of the Y chromosome (Yq) is common practice in men with azoospermia and severe oligozoospermia. Guidelines from the European Association of Urology recommend testing for Yq microdeletions in men with a semen concentration of <5 million/mL. We aim to describe the prevalence of Yq microdeletions in a multi-ethnic urban population in London, United Kingdom. We also aim to determine a threshold based on semen concentration (million/mL) for testing for Yq microdeletions. We performed a retrospective cohort study on 1473 men that underwent genetic evaluation between July 2004 and December 2016. Univariate logistic regression analyses were conducted with microdeletions vs no-microdeletions as the response variable. Semen concentration, combined testicular volume, FSH, LH and testosterone were all used as predictor variables. Microdeletions of the Y-chromosome were found in 4% of our population (n = 58). Microdeletion of the AZFc region occurred in 75% of these men followed by AZFb+c in 13.8%, followed by AZFb, then AZFa and partial AZFa. Semen count was a significant predictor of the presence of a microdeletion (p = 0.035). None of the men with an AZF microdeletion had a sperm count of greater than 0.5 million/mL. We propose a reduction in the current semen count threshold at which Yq microdeletions are tested. A threshold value of 0.5 million/mL (a 10-fold reduction compared to the current guidelines), would increase the specificity without adversely affecting the sensitivity (See table 1). The cost savings of this would be significant. The sperm retrieval rate (SSR) following microdissection testicular sperm extraction was 33.2%. This rate is lower than is described in the literature.

染色体复杂核型异常及AZF微缺失致男性不育一例分析

染色体复杂核型异常及AZF微缺失致男性不育一例分析

Y chromosome microdeletions in azoospermic and oligozoospermic Tunisian men

Abstract Introduction In the present work, we aim to determine the frequency of Y microdeletions and to study the clinical and biological characteristics in idiopathic azoospermic and oligozoospermic men originating from the center of Tunisia. Methods A sample of 163 infertile men with normal karyotype was screened for Y chromosome microdeletion. This research was done by two multiplex PCR reactions. The multiplex A where STSs: Sy82 (AZFa), Sy134 (AZFb), Sy254 (AZFc) markers are amplified and the multiplex B where STSs: Sy81 (AZFa), Sy127 (AZFb), Sy255 (AZFc) markers are amplified. Results All patients had primary spermatogenic failure with normal or elevated plasma FSH level. AZF microdeletion was found in 14 patients (8.58%). The microdeletions affect AZFc in 9 cases, AZFa in one case, AZFb + c in two cases and AZFa + b + c in two cases. An epididymal obstruction is associated in five patients with Y chromosome microdeletion. Conclusion The incidence of Yq microdeletions in the studied population falls within the range published in other countries. Association between Yq microdeletions and epididymal abnormalities is frequent. Yq microdeletions are inherited when an intracytoplasmic spermatozoa injection (ICSI) is possible which justifies a genetic counseling consultation in order to inform couples about possible risks and to refer them to the most appropriate treatment.

The outcomes of intracytoplasmic sperm injection (ICSI) using spermatozoa with Y chromosome microdeletion

AZF microdeletions are the leading genetic cause of male infertility and useful to obtain reliable genetic information for assisted reproductive techniques. Thus, the detection is clinically relevant for appropriate genetic counseling. However, there are only a few reports evaluating clinical course of the patients with AZF microdeletions. The aim of this study was to clarify the results of microdissection testicular sperm extraction (micro TESE) with Y chromosome microdeletion and ICSI outcomes using sperm from those men. A retrospective study in 18 Japanese reproductive center. This study was retrospectively examined a total of 1934 azoospermic or severe oligozoospermic patinets who undergone genetic testing for AZF deletions in 18 Japanese medical centers from April 2007 to June 2016. We examined genetic testing for AZF deletions by Promega Y Chromosome AZF Analysis System (version 2.0). We firstly investigated each type of AZF deletions frequencies, and sperm retrieval rate (SRR) by micro TESE of the azoospermic patients with AZF deletions. In addition, we analyzed the ICSI results using testicular or ejaculatory sperm of men with AZF deletions. AZF microdeletions were found in 189 cases (9.8%): 20 AZFa, 15 AZFb, 72 AZFc, 1 AZF a+b, 58 AZFb+c, and 23 AZFa+b+c. Of men with isolated AZFc deletion, spermatozoa were retrieved in 71.4% (30/42) by micro TESE. We could not find spermatozoa from patients with other AZF deletions. Twenty-nine couples underwent ICSI using testicular sperm retrieved by micro TESE, and 3 couples underwent ICSI using ejaculatory sperm. In totally, 572 metaphase 2 oocytes were retrieved by 62 oocyte retrieval cycles. Fertilization rate was 46.1% (220/477). We performed 62 embryo transfer (ET) cycles, mean replaced embryos were 1.39 per ET. Implantation rate per total transfer embryos were 19.8% (17/86), and clinical pregnancy rate per ET cycles were 27.4% (17/62). Abortion rate was 23.5% (4/17). Although we could not detect significant differences, the results of ICSI using ejaculatory sperm had better propensity in fertilization rate, implantation rate, and clinical pregnancy rate compared with the results of ICSI using testicular sperm (72.7% vs 44.1%, 50.0% vs 17.5%, 75.0% vs 24.1%, respectively). AZFc deletions are associated with severe dysregulations of spermatogenesis, however, sperm retrieval is possible in more than half by micro-TESE. It is useful to obtain reliable genetic information from azoospermic patients and to avoid unnecessary micro TESE. The results of this study provide useful actual clinical information for infertile couples with AZF deletions.

Cytogenetic Abnormalities and Y Chromosome Microdeletions in Azoospermic and Oligospermic Infertile Males from West of Iran

About 15% of couples have infertility problems, half of which are related to male factors. Cytogenetic and genetic disorders account for about 10% of the male infertility problems. The aim of this study was to determine the frequency and types of both cytogenetic abnormalities and AZF microdeletions of Y chromosome in idiopathic azoospermic and oligospermic infertile men in west of Iran. In this case-control study, a total of 108 infertile men including 62 azoospermic and 46 oligospermic men were studied for the cytogenetic and AZF microdeletions. Moreover, 90 fertile men served as a control group. Detailed clinical and laboratory examination was done for all participants. Karyotyping was done on peripheral blood lymphocytes to detect the cytogenetic abnormalities; likewise, multiplex-PCR method was performed to identify the presence of microdeletion in AZFa, AZFb or AZFc regions. Chromosomal abnormalities were detected in 6.5% (7/108) of cases, including two oligospermic men with balanced autosomal rearrangements, one oligospermic and four azoospermic men with Klinefelter syndrome. Y chromosome microdeletions were detected in 4.6% (5/108) of infertile men (AZFc: 3.7%, AZFbc: 0.9%). No AZFa deletion was detected in any of the patients. No chromosomal abnormality and Y chromosome microdeletion was detected in control group. The prevalence of chromosomal abnormalities and Y chromosome microdeletions shows the importance of genetic factors in male infertility. The analysis of karyotype and Y microdeletions in infertile men provide a proper understanding about the causes of infertility, the choice of the appropriate assisted reproduction technique and reducing the risk of transmission of these genetic defects to the future generation.

Multiplex PCR based screening for micro/partial deletions in the AZF region of Y-chromosome in severe oligozoospermic and azoospermic infertile men in Iran

We interested in a very nice article by Motovali-Bashi at al entitled as “Multiplex PCR based screening formicro/partial deletions in the AZF region of Y-chromosome in severe oligozoospermic and azoospermic infertile men inIran” (1). In this article, authors described the frequency of Y chromosome AZF microdeletions increased in subjectswith severe spermatogenic failure and partial deletions of AZFc associated with spermatogenic failure. However, infigure 2 of the paper, sY1291 and sY1201 STS-PCR products on agarose gel were presented erroneously. This mistakedoes not match with the legend of figure 2. sY1201 and sY1291 PCR product sizes are 677 bp and 527 bp, respectively.According to STS-PCR product sizes, sY1201 should be corrected on the top PCR product band on the description ofagarose gel. We would like to bring forward this mistake for your attention and for a possible correction.

Clinical consequences of microdeletions of Y chromosome in Japanese non-obstrctive azoospermic patients

AZF microdeletions are the leading genetic cause of male infertility and useful to obtain reliable genetic information for assisted reproductive techniques. Thus, the detection is clinically relevant for appropriate genetic counseling. However, there are only a few reports evaluating clinical course of the patients with AZF microdeletions. The aim of this study was to investigate the prevalence and the results of microdissection testicular extraction (micro TESE) outcome in Japanese azoospermic patients with AZF microdeletions. A retrospective study in a reproductive center. A total of 573 azoospermic patients and 15 relatives whose son and brother affect AZF microdeletion were examined genetic testing for AZF deletions by Promega Y Chromosome AZF Analysis System (version 2.0) in a Japanese medical center from September 2013 to March 2016. We analyzed sperm retrieval rate (SRR) of the patients with AZF microdeletion. In addition, we analyzed fertilization and clinical pregnancy rates of those in whom the sperm retrieval was successful. AZF microdeletions were found in 75 cases (13.1%) of men with azoospermia: 6 AZFa, 4 AZFb, 28 AZFc, 1 AZFa+b, 24 AZFb+c, and 12 AZFa+b+c. All of 12 fathers of affected son with AZF microdeletion were not observed AZF microdeletion. One of 3 brothers showed AZFb+c microdeletion (same pattern as sibling). No spermatozoa were found with micro TESE of the patients with AZFa, AZFb, AZFa+b, AZFb+c and AZFa+b+c deletions. Spermatozoa was only obtained from patients with AZFc microdeletions. Of men with isolated AZFc deletion, spermatozoa were found in 85.7% (24/28) by micro TESE. Patient age was 35.9 ± 5.4 years old. Testicular atrophy was seen in almost all men (mean testicular volume: 13.7 ± 4.0ml). Follicular stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (T) levels before surgery was 18.6 ± 9.3 mIU/ml, 5.7 ± 2.1 mIU/ml, and 383.1 ± 143.7 ng/dl, respectively. No correlation was found between serum FSH, LH, and T level with the success of sperm retrieval. Patients’ age and testicular volume and also did not affect the SRR for micro-TESE. Fertilization rate was 49.6% and clinical pregnancy rate per embryo transfer (ET) was 23.5%. Three children were safely delivered and 7 pregnancies were ongoing. Two of them had miscarriages. The frequency of AZF deletions in Japan is similar to in other countries. AZFc deletions are associated with severe dysregulations of spermatogenesis, however, sperm retrieval is possible in more than half by micro TESE. It is useful to obtain reliable genetic information from azoospermic patients and to avoid unnecessary micro TESE. Patients with those Y microdeletions does not seem to have ICSI outcomes comparable (lower 2PN rates and clinical pregnancy rates).

New Sequence Variations in Spermatogenesis Candidates Genes.

The aim of this paper was to estimate the frequency and types of mutations in key candidate genes involved in spermatogenesis, and their potential role as a cause of azoospermia /cryptozoospermia. The sequencing of the coding region of genes DBY, RBMY, DAZ, CDY and BPY2, excluding the promoter region, was performed in a series of 25 patients with azoospermia or severe oligozoospermia without AZF microdeletions. The exon 3 from the DAZL gene (DAL3) was also sequenced. The sequences obtained were analyzed by ProSeq, DnaSP v5 and compared with the database using Blastn and tblastx. 16 of the 25 patients showed some type of variants, such as transversions, transitions, deletions and/or insertions in the DAZ, DAZL, CDY and RBMY genes. The mutated sequences had between 97 and 99% homology with the specific protein of every gene, except the DAZL (73%) and DAZ (94%) proteins. The variants found have not been described previously, suggesting they could be mutations that might affect protein function.

Investigation of AZF microdeletions in patients with Klinefelter syndrome.

We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and DNA was extracted from these samples. Multiplex polymerase chain reaction was performed to screen the partial deletions of 25 sequence-tagged sites on the Y chromosome. In 111 cases with KFS, 1 case contained the AZFb+d+c deletion. The Gr/Gr deletion was identified in 12 KFS cases and 5 control cases. In addition, the b2/b3 deletion was identified in 13 KFS cases and 6 control cases. There were no significant differences in phenotype and genotype of the 2 partial AZFc deletions between patients and controls (P > 0.05). Our results suggest that patients with KFS may also have Y chromosome microdeletions to varying degrees and that the gr/gr deletion and b2/b3 deletion may not play a role in the susceptible genetic background of azoospermia in patients with KFS in the Sichuan population.

Azoospermia factor microdeletions: common tag STSs in infertile men with azoospermia and sever oligospermia from Egypt

Background Screening of Yq has become one of the most frequently performed postnatal molecular genetic tests in Egypt. A survey sponsored by WHO estimated the prevalence of infertility among Egyptian couples to be 12% (4.3% for primary infertility and 7.7% for secondary infertility) [1]. The 10-Mb AZF region on the q-arm of the Y chromosome is frequently deleted in men with unexplained spermatogenic failure. Microdeletions are linked to AZF loci in 20-30% of patients with non-obstructive azoospermia and in 3-7% of patients with severe idiopathic oligospermia [2]. AZF microdeletions are associated with varied testicular histology, ranging from Sertoli-Cell-Only (SCO) syndrome to hypospermatogenesis to maturation arrest. We aim to determine the tag sequence-tagged sites (STSs) in the AZF-region of Yq associated with azoospermia and severe oligospermia in infertile Egyptian men. Materials and methods We analyzed buccal cells from 98 infertile Egyptian men with average ages 22-45 years (56 with azoospermia plus 42 with severe oligospermia) using multiplex PCR for six common AZFa, AZFb, and AZFc STS markers. Results Forty-eight (37%) microdeletions with five separate deletions were identified. We found 66.7% of the deletions in the AZFb locus, 20.8% in the AZFa locus, and 12.5% in the AZFc locus. Some common haplotypes (7 of 10) were identified in our sample population. Haplotypes H3 (sY127) and H4 (sY134) were the most common. Separate microdeletions were interestingly localized in infertile Y-chromosome patients. Conclusions We conclude that a minimum of three tags; STSs-sY86, sY127 and sY134 can be used to screen infertile Egyptian men for Yq microdeletions before assisted reproduction is initiated as a treatment.

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain debated. In this study, we provide insights into the sperm concentration cutoff value for routine testing, the predictive value of AZFc deletion for testicular sperm retrieval and the Y-background contribution to the interpopulation variability of deletion frequencies. In the Spanish population, partial AZFc rearrangements have been poorly explored and no data exist on partial duplications. In our study, 27/806 (3.3%) patients carried complete AZF deletions. All were azoo/cryptozoospermic, except for one whose sperm concentration was 2 × 10(6)/ml. In AZFc-deleted men, we observed a lower sperm recovery rate upon conventional TESE (9.1%) compared with the literature (60-80% with microTESE). Haplogroup E was the most represented among non-Spanish and hgr P among Spanish AZF deletion carriers. The analysis of AZFc partial rearrangements included 330 idiopathic infertile patients and 385 controls of Spanish origin. Gr/gr deletion, but not AZFc partial duplications, was significantly associated with spermatogenic impairment. Our data integrated with the literature suggest that: (1) routine AZF microdeletion testing could eventually include only men with ≤2 × 10(6)/ml; (2) classical TESE is associated with low sperm recovery rate in azoospermic AZFc-deleted men, and therefore microTESE should be preferred; (3) Y background could partially explain the differences in deletion frequencies among populations. Finally, our data on gr/gr deletion further support the inclusion of this genetic test in the work-up of infertile men, whereas partial AZFc duplications do not represent a risk for spermatogenic failure in the Spanish population.

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

To determine the prevalence of South Amerindian Y chromosome in Chilean patients with spermatogenic failure and their association with classical and/or AZFc-partial Y chromosome deletions. We studied 400 men, 218 with secretory azo/oligozoospermia (cases) and 182 controls (116 fertile and/or normozoospermic, and 66 azoospermic with normal spermatogenesis). After a complete testicular characterization (physical evaluation, hormonal and/or biopsy) peripheral blood was drawn to obtain DNA for Y chromosome microdeletions, AZFc-partial deletions and biallelic analysis by allele specific polymerase chain reaction (PCR) of the M3 (rs3894) single nucleotide polymorphism (SNP). Classical AZF microdeletions were found in 23 cases (Y-microdeleted). AZFc-partial deletions were observed in 10 cases (6 "gr/gr", 3 "b2/b3" and 1 "b1/b3") and 4 controls (4 "gr/gr"). The AZFc-partial deletions were mainly associated with the absence of DAZ1/DAZ2 (64 %). No significant differences in the prevalence of AZFc-partial deletions were observed between cases and controls. We observed a significant higher proportion of the Q1a3a haplogroup in Y-microdeleted men compared to patients with spermatogenic failure without deletions and control men (P<0.01 and P<0.05, respectively by Bonferroni test). Among them, patients with AZFb deletions had an increased prevalence of the Q1a3a haplogroup compared to controls, cases without deletions and to those with complete or partial-AZFc deletions (P<0.01, Bonferroni test). The Q1a3a South Amerindian lineage seems to increase the susceptibility to non AZFc microdeletions. On the other hand, in Chilean population the AZFc-partial deletions ("gr/gr", "b1/b3" and/or "b2/b3") does not seem to predispose to severe spermatogenic impairment.

Analysis of Y chromosome abnormalities and azoospermia factor microdeletions in male infertility

Objective To study the relationship between Y chromosome abnormalities and AZF microdeletions in males with reproductive failure. Methods A case-control study was conducted in 2694 reproductive failure men with age ranges from 23 to 49 years old from the Institute of Reproductive Medicine of Jilin Province.Patients were divided into three groups:spermatogenic failure group (n=1332),disadvantage pregnancy outcomes group (n=994) and adverse birth outcomes group.All patients underwent chromosomal karyotype analysis (G-banding).AZF microdeletions were further investigated in patients with Y chromosomal abnormalities by PCR.The Chi-square test was used to compare the frequency of Y chromosome abnormalities in three groups. Results Of the 51 cases of Y chromosome abnormalities (1.89%,51/2694),32 were (2.40%,32/1332) in the spermatogenic failure group,15 were (1.51%,15/994) in disadvantage pregnancy outcomes group and 4 were (1.09%,4/368) in adverse birth outcomes group.There was no significant difference in Y chromosome abnormalities among different groups (χ2=3.895,P>0.05).AZF microdeletions were detected in 10 cases (19.61%,10/51) of Y chromosome abnormalities patients with spermatogenic failure. Conclusions The incidence of Y chromosomal abnormalities in three reproductive failure groups is similar.Chromosome karyotype analysis and AZF microdeletions examination could identify the genetics etiology in males with reproductive failure.(Chin J Lab Med,2013,36:50-52) Key words: Chromosome aberrations; Chromosomes; human; Y; Infertility; male