Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China

Wang, Ruixue; Fu, Chao; Yang, Yaping; Han, Rong-Rong; Dong, Yaping; Dai, Rulin; Liu, Ruizhi

doi:10.1007/s10815-010-9420-9

Cited by 39 publications

(41 citation statements)

References 23 publications

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“…It is clear that men with large deletions of Yq are infertile but large deletions of the Yq-chromosome are rarely found. Several investigations have shown that 10-15 % of infertile men with azoospermia or severe oligozoospermia have small deletions of the Yq-chromosome, which are not detectable in a karyotype test [8]. A study performed on 3073 infertile men found that Yq microdeletions were detected in 5.5 % of patients who suffered from oligozoospermia and in 8.3 % of those suffering from non-obstructive azoospermia [9].…”

Section: Introductionmentioning

confidence: 99%

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Totonchi

Meybodi

Boroujeni

et al. 2012

J Assist Reprod Genet

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summary Detection of Y-chromosome microdeletion is useful to obtain reliable genetic information for assisted reproductive techniques, thus avoiding unnecessary treatment and vertical transmission of genetic defects. Purposes This research was conducted over a six-year period to analyze clinical data, somatic cytogenetic abnormalities, and types of microdeletions in men with fertility disorders in Iran. Methods and Patients A total of 3654 infertile men were included in this study. Semen samples were analyzed according to standard methods. Conventional chromosomal karyotyping was used to analyze chromosome abnormalities.Polymerase chain reaction (PCR) amplification using nine specific sequence-tagged sites (STS) was used to detect AZF microdeletions. Results Out of the 3654 patients who were analyzed, AZF region microdeletions were detected in 185 cases (5.06 %). Karyotype analysis was available for 157 men and among them abnormal karyotypes were found in 51 cases (32.48 %). One hundred and forty-seven cases with Yq microdeletions suffered from azoospermia and 38 from severe oligozoospermia. Our data show that the most frequent microdeletions were in the AZFc region, followed by the AZFb+c+d, AZFb+c, AZFb, AZFa, and AZF a+c regions. Conclusion The study has confirmed that the detection of microdeletions in the AZF region is significant from a diagnostic viewpoint. It is also useful to obtain reliable genetic information from infertile men to determine the etiology of the deletions, and to avoid unnecessary treatments and vertical transmission of genetic defects.

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Section: Introductionmentioning

confidence: 99%

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Totonchi

Meybodi

Boroujeni

et al. 2012

J Assist Reprod Genet

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show abstract

Section: Introductionmentioning

confidence: 99%

“…Microdeletions of azoospermia factor (AZF) loci on the long arm of the Y chromosome are a major cause of male infertility in populations throughout the world (Mitra et al, 2006;Li et al, 2008;Wang et al, 2010). As early as 1976, Tiepolo and Zuffardi followed by other authors postulated that genes and gene families located on locus 11 of the Y chromosome long arm (Yq11) were associated with male germ cell development (Ambasudhan et al, 2003;Wang et al, 2010;Behulova et al, 2011). It was later found that microdeletions of four subregions of the AZF region (AZFa, AZFb, AZFc, and AZFd) led to various types of spermatogenesis impairments, from teratozoospermia to infertility, with different population distributions depending on their Y haplogroup profile (Li et al, 2008;Wang et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

“…As early as 1976, Tiepolo and Zuffardi followed by other authors postulated that genes and gene families located on locus 11 of the Y chromosome long arm (Yq11) were associated with male germ cell development (Ambasudhan et al, 2003;Wang et al, 2010;Behulova et al, 2011). It was later found that microdeletions of four subregions of the AZF region (AZFa, AZFb, AZFc, and AZFd) led to various types of spermatogenesis impairments, from teratozoospermia to infertility, with different population distributions depending on their Y haplogroup profile (Li et al, 2008;Wang et al, 2010). For example, microdeletions in AZFa led mostly to Sertoli cell-only syndrome, mutations in AZFb resulted in an arrest of spermatogenesis at meiosis I, and mutations in AZFc were associated to hypospermatogenesis with progression to severe azoospermia or oligospermia (Ferrás et al, 2004;Foresta et al, 2005;Zhou et al, 2006;Arruda et al, 2007;Wang et al, 2010;Behulova et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

“…Klinefelter's syndrome (KFS) is the most frequent chromosomal anomaly observed among infertile men (Mitra et al, 2006;Choe et al, 2007;Wang et al, 2010;Behulova et al, 2011;Zhang et al, 2012). Although most men with KFS have the 47,XXY karyotype, some show the mosaic karyotype (KFM) in their somatic and germ cells (Mitra et al, 2006;Choe et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

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Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Zhang¹,

Zhang²,

Wang³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results 4973©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 4972-4980 (2013) AZF microdeletions in azoospermic KFS patients were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

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Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India

Dutta

Paladhi

Pal

et al. 2021

Molec Gen & Gen Med

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Infertility is a major challenge to reproductive health and the etiology involves both genetic and environmental risk factors. Approximately 15% of couples are infertile across the globe, and the origin of problems is shared almost equally by both the sexes (Poongothai et al., 2009). The problem of male infertility remains unaddressed in Indian society owing to male domination and illogical male chauvinism. Low sperm count is a clinically established cause of infertility among Indian

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Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China

Cited by 39 publications

References 23 publications

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India

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