Genetic association between AZF region polymorphism and Klinefelter syndrome

Hadjkacem-Loukil, Lobna; Ghorbel, Myriam; Bahloul, Ali; Ayadi, Hammadi; Keskes, Leila

doi:10.1016/j.rbmo.2009.05.006

Cited by 19 publications

(18 citation statements)

References 27 publications

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“…As reported earlier in Hadj Kacem et al study [19], gr/gr deletion was the most frequent in both non KF azoospermic (11.9%) and severe oligospermic patients (15.7%). But in contrast to their findings, none of the KF patients harbored gr/gr deletion.…”

Section: Discussionsupporting

confidence: 74%

See 1 more Smart Citation

Chromosomal defects in infertile men with poor semen quality

Ghorbel¹,

Baklouti²,

Abdallah³

et al. 2012

J Assist Reprod Genet

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Section: Discussionsupporting

confidence: 74%

“…In Ceylan et al report, AZF deletions in KF patients were detected in the AZFc region [5]. Other authors observed that KF patients had multiple types of AZF deletions: in AZFa, AZFb and AZFc [19,25].…”

Section: Discussionmentioning

confidence: 93%

Chromosomal defects in infertile men with poor semen quality

Ghorbel¹,

Baklouti²,

Abdallah³

et al. 2012

J Assist Reprod Genet

Self Cite

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“…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: 99%

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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“…Tateno et al (1999) failed to find microdeletions in KFS patients. The current study illustrates deletions in the AZFc region in contrast to the deletions AZFa and AZFb in KFS patients by Mitra et al (2006) and the AZFa, AZFb and AZFc combined deletions by Mitra et al (2006) and Hadjkacem-Loukil et al (2009). Deletions in the AZFc regions were found in 5 KFS patients (35%).…”

Section: Discussionmentioning

confidence: 56%

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

Ceylan

Gg²,

Ta³

2010

Genet. Mol. Res.

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ABSTRACT. We looked for a possible association between Klinefelter syndrome (KFS) and microdeletions in the Y chromosome in Turkish KFS patients. We examined the frequency of KFS in male patients with proven non-obstructive azoospermia and the types of Y chromosome microdeletions in these KFS patients. Fifty azoospermic patients and 50 fertile men were included in this study. KFS was found in 14 azoospermic patients. Y chromosome microdeletions were found in eight KFS patients. Azoospermia factor locus c (AZFc) was the most commonly deleted interval in KFS patients. All KFS patients had elevated plasma follicle-stimulating hormone and luteinizing hormone concentrations, but they had normal plasma testosterone concentrations. Testis biopsy of five samples with Y microdeletions revealed Sertoli cell-only syndrome. No Y microdeletions were found in the fertile group. We concluded that there could be an association between the AZFc region and KFS. Screening for this should be part of diagnostic work-up, particularly in those considering assisted reproduction.

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Genetic association between AZF region polymorphism and Klinefelter syndrome

Cited by 19 publications

References 27 publications

Chromosomal defects in infertile men with poor semen quality

Chromosomal defects in infertile men with poor semen quality

Investigation of AZF microdeletions in patients with Klinefelter syndrome

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

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