The azoospermia factor locus-c region was found to be related to Klinefelter syndrome in Turkish patients

Ceylan, Cavit; Gg, Ceylan; Ta, Serel

doi:10.4238/vol9-2gmr826

Cited by 9 publications

(8 citation statements)

References 15 publications

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“…Other studies reported Y chromosome microdeletions in patients with KFS; Mitra et al (2006) found that 4 of 14 KFS patients (18 STSs) showed microdeletions, including 3 cases with the AZFa deletion and 1 with the AZFb deletion. Ceylan et al (2010) found that 8 of 14 Turkish KFS patients (6 STSs) had AZFc deletions, while no deletion was detected in the control group. Hadjkacem-Loukil et al (2009) found that 6 of 9 KFS patients (19 STSs) showed AZF deletions, including a gr/gr deletion, indicating that partial deletion of AZFc may not play a role in susceptibility to KFS.…”

Section: Discussionmentioning

confidence: 93%

Investigation of AZF microdeletions in patients with Klinefelter syndrome

Lx¹,

Dai²,

Xp³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. 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 15141 AZF microdeletions in patients with Klinefelter syndrome ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 15140-15147 (2015) 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.

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Section: Discussionmentioning

confidence: 93%

Investigation of AZF microdeletions in patients with Klinefelter syndrome

Lx¹,

Dai²,

Xp³

et al. 2015

Genet. Mol. Res.

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“…There have been several conflicting reports about the association between KFS and AZF microdeletions (Ambasudhan et al, 2003;Ferrás et al, 2004;Foresta et al, 2005;Mitra et al, 2006;Arruda et al, 2007;Choe et al, 2007;Ceylan et al, 2010;Behulova et al, 2011). Accordingly, analysis and comparison with other studies of these associations is justified.…”

Section: Discussionmentioning

confidence: 99%

“…Microdeletions of the Y chromosome are the second most common cause of spermatogenic failure after KFS (Ceylan et al, 2010;Behulova et al, 2011). However, the frequency of AZF microdeletions in azoospermic males varies considerably across studies and populations (3-55%) (Foresta et al, 1998;Ambasudhan et al, 2003;Vogt et al, 2004;Behulova et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

“…Some studies have shown an increased prevalence of classic AZF microdeletions in azoopspermic KFS patients, and suggested that partial AZFc microdeletions might not play a role in laying the genetic background for KFS azoospermic phenotypes (Mitra et al, 2006;Hadjkacem-Loukil et al, 2009;Ceylan et al, 2010). However, several studies have found no association between these two genetic disorders (Tateno et al, 1999;Lee et al, 2000;Ambasudhan et al, 2003;Choe et al, 2007;Balkan et al, 2008;Behulova et al, 2011).…”

Section: Introductionmentioning

confidence: 91%

“…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%

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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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Epigenetics and genomics in Klinefelter syndrome

Skakkebæk

Viuff

Nielsen

et al. 2020

American J of Med Genetics Pt C

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Since the first description of Klinefelter syndrome (KS) was published in 1942 in The Journal of Clinical Endocrinology, large inter‐individual variability in the phenotypic presentation has been demonstrated. However, our understanding of the global impact of the additional X chromosome on the genome remains an enigma. Evidence from the existing literature of KS indicates that not just one single genetic mechanism can explain the phenotype and the variable expressivity, but several mechanisms may be at play concurrently. In this review, we describe different genetic mechanisms and recent advances in the understanding of the genome, epigenome, and transcriptome of KS and the link to the phenotype and clinical heterogeneity. Future studies are needed to unite clinical data, genomic data, and basic research attempting to understand the genetics behind KS. Unraveling the genetics of KS will be of clinical relevance as it may enable the use of polygenic risk scores to predict future disease susceptibility and enable clinical risk stratification of KS patients in the future.

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The azoospermia factor locus-c region was found to be related to Klinefelter syndrome in Turkish patients

Cited by 9 publications

References 15 publications

Investigation of AZF microdeletions in patients with Klinefelter syndrome

Investigation of AZF microdeletions in patients with Klinefelter syndrome

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

Epigenetics and genomics in Klinefelter syndrome

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