Incidence of Microdeletions in the Azf Region of the Y Chromosome in Slovak Patients With Azoospermia

R, Behulova; Varga, Ivan; Strhakova, Lubica; Bôžiková, Alexandra; Gabriková, Dana; Boroňová, Iveta; Repiská, Vanda

doi:10.5507/bp.2011.006

Cited by 24 publications

(22 citation statements)

References 30 publications

(27 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…KFS has been shown to be the main factor of spermatogenic failure, and its prevalence has since been associated with microdeletions in Y chromosomal AZF regions (Ceylan et al, 2010); however, the role of KFS in the pathogenesis of spermatogenesis remains unclear (Amory et al, 2000;Choe et al, 2007;Behulova et al, 2011). Therefore, the association between KFS and AZF microdeletions has attracted the attention of many researchers.…”

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%

“…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%

“…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%

“…The Y chromosome contains several spermatogenesis-related genes and plays an important role in male germ cell development (Li et al, 2008;Behulova et al, 2011). 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).…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

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.

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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.

View full text Add to dashboard Cite

show abstract

Clinical characteristics and treatment of azoospermia and severe oligospermia patients with Y‐chromosome microdeletions

Zhang

Wang

et al. 2013

Molecular Reproduction Devel

View full text Add to dashboard Cite

Clinical characteristics, testicular pathology, serum levels of reproductive hormones, and genetic analysis were compared among 100 azoospermic, 20 oligozoospermic cases with azoospermia factor (AZF) microdeletion, and 50 fertile males to evaluate the relationship between the AZF microdeletion regions and the azoospermia phenotype. AZF microdeletion region, testicular volume, and serum reproductive hormone levels of patients were compared against histological examination of testicular biopsies. The number of cases of AZFa, AZFb, AZFc, AZFb + c, and AZFa + b + c microdeletion was respectively 2 (1.7%), 15 (12.5%), 77 (64.2%), 24 (20.0%), and 2 (1.7%). The testicular volume of patient with AZF microdeletion was smaller (P < 0.01), while luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels were significantly higher than that of fertile individuals (P < 0.01 and P < 0.05, respectively). Among the patients, testicular volume with AZFb-microdeletion cases was larger compared to patients with AZFc or AZFb + c microdeletions (P < 0.05 and P < 0.01, respectively), whereas FSH levels were significantly lower than that of AZFc or AZFb + c microdeletions (P < 0.05). The Johnsen score of patients with an AZFb + c microdeletion was lower than that of patients with AZFb and AZFc microdeletions, but no significant difference was observed. Pathological findings of testicular biopsies poorly correlated with the pattern of AZF deletion, with the AZFc microdeletion exhibiting the most varied phenotypes. In subsequent assisted reproductive treatments, sperm from patients with an AZFc microdeletion that was obtained by testicular sperm aspiration (TESA) or microdissection testicular sperm extraction (m-TESE) were more likely to result in pregnancy. Combined with testis pathology pattern, the specific region of AZF microdeletion and hormonal assessments provide reliable prognostic information on the chance of successful sperm retrieval for assisted reproductive technologies.

show abstract

The Cytogenetics of Infertility

Randolph

2012

The Principles of Clinical Cytogenetics

View full text Add to dashboard Cite

Incidence of Microdeletions in the Azf Region of the Y Chromosome in Slovak Patients With Azoospermia

Cited by 24 publications

References 30 publications

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

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

Clinical characteristics and treatment of azoospermia and severe oligospermia patients with Y‐chromosome microdeletions

The Cytogenetics of Infertility

Contact Info

Product

Resources

About