Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients

Akın, Haluk; Önay, Hüseyin; Turker, Emre; Özkınay, Ferda

doi:10.1007/s10815-011-9542-8

Cited by 21 publications

(19 citation statements)

References 29 publications

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“…Deletions of the different AZF regions occured with different frequency. Confirming previous data [1,15,26], our findings showed that classical AZFc deletions represented the most frequent finding (54.17% of deletions in our cases), followed by the AZFbc region (18.75%), AZFb (10.42%) and AZFa (9.03%). Our data revealed that there was a slightly higher frequency of the AZFa and AZFb microdeletions in infertile patients than previous studies [14,26], which was mainly due to a high rate of partial deletions in AZFa region.…”

Section: Discussionsupporting

confidence: 92%

“…Subsequently, numerous studies on the association of the Y chromosome AZF microdeletion with male infertility were reported. These studies revealed that Y chromosome microdeletions ranged from 1% to 55% among infertile men with azoospermia or severe oligozoospermia [1,13,18,37]. We investigated AZF microdeletion in 1,333 infertile patients and found the total prevalence of AZF microdeletion was 10.80%.…”

Section: Discussionmentioning

confidence: 99%

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Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Xiong

Ding

et al. 2012

J Assist Reprod Genet

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Purposes To investigate the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions and analyze their association with defective spermatogenesis in Chinese infertile men. Methods This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reactio(PCR)were performed in 200 controls and 1,333 infertile men, including 945 patients with non-obstructive azoospermia and 388 patients with severe oligozoospermia. Results Out of 1,333 infertile patients, 154(11.55%) presented chromosomal abnormalities. Of these, 139 of 945 (14.71%) were from the azoospermic and 15 of 388 (3.87%) from the severe oligozoospermic patient groups. The incidence of sex chromosomal abnormalities in men with azoospermia was 11.53% compared with 1.03% in men with severe oligozoospermia (P < 0.01). Also 144 of 1,333 (10.80%) patients presented Y chromosome microdeletions. The incidence of azoospermia factor(AZF) microdeletion was 11.75% and 8.51% in patients with azoospermia and severe oligozoospermia respectively. Deletion of AZFc was the most common and deletions in AZFa or AZFab or AZFabc were found in azoospermic men. In addition, 34 patients had chromosomal abnormalities among the 144 patients with Y chromosome microdeletions. No chromosomal abnormality and microdeletion in AZF region were detected in controls. Conclusions There was a high incidence (19.80%) of chromosomal abnormalities and Y chromosomal microdeletions in Chinese infertile males with azoospermia or severe oligozoospermia. These findings strongly suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Xiong

Ding

et al. 2012

J Assist Reprod Genet

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“…Of the 32 selected studies 14 are from descriptive [1, 2, 4, 13, 24, 27-29, 31, 32, 34-37], 08 are cross-sectional [3,5,17,18,21,25,26,33], 05 are experimental [7,12,19,20,38], 03 are case reports [22,30,39] and 02 are case-control studies [10,23]. Studies have good methodological accuracy.…”

Section: Resultsmentioning

confidence: 99%

“…The contribution of factors related to male is between 30-50% [5]. Failures in spermatogenesis are among the main reasons with 50% of cases [6,7].…”

Section: Introductionmentioning

confidence: 99%

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Y-chromosome microdeletion and male infertility: a systematic review

Filho¹,

Ghirelli-Filho²,

Lacerda-Pinheiro³

et al. 2015

Int Arch Med

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Objective: evaluate the current evidence regarding different aspects (epidemiological, histological, physiological and genetic) of male infertility caused by Y-chromosome microdeletion. Material and Methods:A systematic review of articles from January 1 st , 1996 and February 28 th , 2014 present in two databases: MeDLINe and ScieLO. The search was performed with the MeSH descriptors "Y Chromosome", "Infertility" and Keyword "microdeletion". results:The literature indicates that deletion of AZF, especially AZFc, is related to azoospermia, oligozoospermia or even infertility. The absence of other loci is also underlined by the evidence: AZFa, AZFb and AZFd, even though the prevalence rates are not equidistant. Surveys also show changes in the male hormone physiology varying the levels of testosterone/LH/FSH as well as modifying the gonadal morphology in individuals affected by Y-chromosome microdeletion. Conclusion:More research is needed focusing on possible deletions that the Y-chromosome may suffer, giving emphasis on their clinical outcomes and correlations with infertility.

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A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions

Zheng

Shen

2014

J Assist Reprod Genet

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Purpose To determine the frequencies and the characteristics of Y chromosome microdeletions (pl) in infertile men from central China to perform appropriate therapeutic choices by updated multiplex-PCR. Methods In this study, we established a novel universal primer-multiplex-PCR (U-M-PCR) method to overcome the disadvantages of traditional multiplex PCR (M-PCR). We chose 15 sequence-tagged sites (STS) for detection of Y chromosome microdeletions. 540 infertile male patients and 100 healthy male controls were selected in the study.Results Of the 540 male infertility patients, 48 Y-chromosome microdeletions were detected, with a total deletion rate of 8.9 %. Of these deletions, the rate of AZFa deletions (sY84) was 0.5 % (3/540), the rate of AZFb deletions (sY143) was 0.7 % (4/540) and the rate of AZFc deletions (sY242, sY254 and sY255) was 7.6 % (41/540).

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Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients

Cited by 21 publications

References 29 publications

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

Y-chromosome microdeletion and male infertility: a systematic review

A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions

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