Prevalence of Y chromosome microdeletions in infertile Tunisian men

Hammami, Wajih; Kilani, O.; Khelifa, Mariem Ben; Ayed, Wiem; Abdelhak, Sonia; Bouzouita, Abderrezzak; Zhioua, Fethi; Amouri, Ahlem

doi:10.1684/abc.2014.0962

Cited by 7 publications

(10 citation statements)

References 29 publications

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“…This result is similar to that described in Ng et al [ 12 ] and Imken et al [ 35 ] reports, but different to the results found in other reports [ 17 , 34 , 42 , 43 ]. Several studies have shown that AZFc deletion was the most common [ 22 , 39 , 40 ], and these results are in accordance with ours (14.12 %). However, other studies showed conflicting results [ 33 , 35 , 42 , 44 ].…”

Section: Discussionsupporting

confidence: 93%

“…In our study, sixteen patients among the 85 analyzed infertile men showed the presence of Y microdeletions (18.83 %). This frequency is in accordance to that found by Ghorbel et al (17.1 %) [ 21 ], Fayez et al (20.4 %) [ 22 ], Imken et al (3.15 %) [ 35 ] and El Oualid et al (3.83 %) [ 36 ], although our cohort of patients showed a higher frequency, and this may be due to the low number of patients ascertained as well as the high number of patients with Y microdeletions, but higher than that found in the Chinese population (6.4 %; 8.5 %; 9.1 %) [ 12 , 37 , 38 ] or other Arab populations (Kuwait (2.6 %) [ 33 ], Tunisia (2.7 % and 6.85 %) [ 39 , 40 ], Saudi Arabia (3.2 %) [ 41 ] and Egypt (4 %) [ 42 ]. However, the frequency found in this study was included in the range of frequencies of wide world (1–55 %) [ 17 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

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Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

et al. 2015

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Background: Male infertility is responsible for 50 % of infertile couples. Thirty percent of male infertility is due to cytogenetic and genetic abnormalities. In Arab and North African populations, several studies have shown the association of these chromosomal abnormalities with male infertility. Our objective is to evaluate the frequency of chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco. Methods: A total of 573 Moroccan infertile men (444 azoospermic and 129 oligozoospermic men) referred for cytogenetic analysis to the Department of Cytogenetics of the Pasteur Institute of Morocco, were screened for the presence of chromosomal abnormalities and Y chromosome microdeletions. Results: Chromosomal abnormalities accounted for approximately 10.5 % (60/573). Fifty six cases among them have sex chromosome abnormalities (93.34 %), including Klinefelter's syndrome in 41 patients (68.34 %). Autosomal chromosome abnormalities (6.66 %) were observed in 4 patients. Chromosomal abnormalities were more prevalent in azoospermic men (13.06 %) than in oligospermic men (1.55 %). Y microdeletions were detected in 16 of 85 patients (AZFc: 14.12 %, AZFbc: 4.70 %), most of them where azoospermic men with no chromosomal abnormality. Conclusions: These results highlighted the need for efficient molecular genetic testing in male infertility diagnosis. In addition, a genetic screening should be performed in infertile men before starting assisted reproductive treatments.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

et al. 2015

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“…After KS, AZF microdeletions in this study is are the most common genetic abnormality (5.5%) among our study groups after KS (11.2%), (Table 4). This result is within the previously reported range of 0.98% to 55.5% for infertile men in several studies [4,14,24,25,27,28,31,34,[47][48][49][50][51][52][53][54][55][56][57][58][59][60][61] .…”

Section: Discussionsupporting

confidence: 91%

The Frequency of Chromosomal Abnormalities and Y Chromosome Microdeletions in Infertile Non-Obstructive Azoospermic and Severe Oligozoospermic Males

et al. 2017

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Purpose: To estimate the frequency and types of both chromosomal abnormalities and Azoospermia Factor (AZF) microdeletions among patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOZ) with sperm count less than 5 million/ml. Methods: Karyotyping was performed for all 1127 patients, whereas AZF microdeletions assay was done for 811 patients including 653 NOA and 158 SOZ by multiplex polymerase chain reaction (PCR). All patients were subjected to clinical examination, scrotal duplex ultrasound and hormonal evaluations. Results: The frequency of chromosomal abnormalities was 14.4%, higher in NOA than SOZ men (22.6% versus 3.7%). Numerical chromosomal abnormalities were higher than structural type (11.8% versus 2.4%). Klinefelter syndrome (KS) represented 11.2% of the total chromosomal and 94.1% of sex chromosomal abnormalities. AZF microdeletions were higher in NOA than SOZ (6.1% versus 3.16%). AZFc microdeletions represented the most frequent finding: 31/45 (68.9%), followed by AZFbc: 7/45(15.6%), AZFb: 4/45 (8.8%) and AZFa: 3/45 (6.7%). All patients with AZFa (3), AZFb (4) and AZFbc (7) deletions were NOA, while 26/31(83.87%) with isolated AZFc deletion were NOA and 5/31(16.13%) were SOZ. Conclusion: In according to the results shown, we emphasize the importance of karyotyping and AZF microdeletions analysis in such groups. Counseling for such patients before ARTs is warranted to decrease the risk of transmitting genetic abnormalities to off spring.

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“…Genetic abnormalities have been generally considered to be a main risk factor of idiopathic NOA (Hamada et al ., ; Rayburn, ). Currently, the techniques of chromosomal analysis and Y chromosome microdeletion detection screening are valuable for clinical diagnosis and therapy of male infertility with azoospermia (Hammami et al ., ; Yuen et al ., ). But so far, the pathogenicity factors of more than 50% of azoospermia are still unknown (Zhang et al ., ).…”

Section: Discussionmentioning

confidence: 99%

Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population

et al. 2016

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The exact aetiology and pathogenesis of most non-obstructive azoospermia (NOA) are still unknown. The previous two genomewide association studies (GWASs) have identified three different loci within the HLA region for NOA in the Han Chinese population, including rs3129878, rs498422 and rs7194. To further validate the risk of three GWAS-linked loci for NOA, we conducted a case-control study of these three risk loci in an independent Han Chinese male population, with 603 NOA patients and 610 controls. Furthermore, we also performed a meta-analysis of five studies on these three NOA-risk loci. The case-control study strongly suggested a significant association between loci rs3129878, rs498422 and rs7194 and NOA (P = 6.75 × 10 (OR = 2.2586), P = 0.0060 (OR = 1.4013) and P = 0.0128 (OR = 1.2626) respectively). Our meta-analyses also supported the susceptibility of these three risk loci to NOA (P < 0.01). The risk variants within the HLA region potentially have a strong effect on males at risk of NOA, and may serve as diagnostic markers for male infertility. However, considering genetic difference between different populations, future validating studies in larger independent samples and animal experiments are suggested.

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Prevalence of Y chromosome microdeletions in infertile Tunisian men

Cited by 7 publications

References 29 publications

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

The Frequency of Chromosomal Abnormalities and Y Chromosome Microdeletions in Infertile Non-Obstructive Azoospermic and Severe Oligozoospermic Males

Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population

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