Y chromosome microdeletions in Tunisian infertile males

Rejeb, Imen; Mrad, Ridha; Mâazoul, Faouzi; Trabelsi, M.; Jemaa, Lamia Ben; Chaâbouni, M; Zhioua, Fethi; Chaabouni, H.

doi:10.1016/j.patbio.2007.05.002

Cited by 14 publications

(14 citation statements)

References 23 publications

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“…In this work, we found that 9.5% of patients with azoospermia or severe oligozoospermia had chromosomal anomalies, which ranges with the reported frequency. However, our finding was higher than the previously reported value in our country; Rejeb and al., 2008, has reported 6.85%. The small and unbalanced sample, patient selection criteria, methodological aspects and other factors explain the difference between the present and the previous study.…”

Section: Discussioncontrasting

confidence: 96%

Y chromosome microdeletions screening in Tunisian infertile men

Chabchoub

Kdous²,

Zhioua³

et al. 2019

Annales De Biologie Clinique

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Aim: Chromosome abnormalities evaluation and Y chromosome microdeletions screening prior to assisted reproduction have an important interest in preserving future generations of genetic risks. The primary aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on Yq chromosome in Tunisian infertile men with severe oligozoospermia or non obstructive azoospermia. Secondary to correlate Yq microdeletions with testicular sperm extraction results and cytological evaluation. Methods: In this prospective study, Eighty-four infertile patients and 52 controls were screened for karyotypic abnormalities and Yq chromosome microdeletions. Results: No chromosome abnormalities and no microdeletions were detected in controls. Seven infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromosome microdeletions. The frequency of chromosome abnormalities in azoospermic patients was 11.1% vs 3.3% in severe oligozzospermic group. The frequency of microdeletions was 11.1% in the azoospermic group and 6.7% in the severe oligozoospermic group. Six out of 84 (71.4%) of the infertile patients had microdeletions in the AZFc region (4 azoospermic and 2 severe oligozoospermic males), 1 azoospermic male (10%) in the AZFb,c regions and one in AZFb, no deletions in the AZFa region were detected. Among the 6 azoospermic patients with microdeletions: 4 had Sertoly cell only syndrome (SCOS) and 2 had maturation arrest (MA). Conclusion: Genetic abnormalities and Yq microdeletions in infertile Tunisian patients are frequent and similar to those reported in other countries. The knowledge of the existence of genetic abnormalities and microdeletions is useful to provide a correct diagnosis of male infertility, it allows the physician to refer the patient to adequate assisted reproduction technique and examine the value of testicular biopsy pertinence.

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Section: Discussioncontrasting

confidence: 96%

Y chromosome microdeletions screening in Tunisian infertile men

Chabchoub

Kdous²,

Zhioua³

et al. 2019

Annales De Biologie Clinique

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“…In fact, the authors found that 4 of the 127 infertile subjects tested (3.15%) harbored microdeletions in the AZF region. However, in a previous study conducted on the Tunisian population, Rejeb et al (2008) found that among 146 infertile men with a low sperm count, 6.85% of them harbored AZF deletions (using a set of 20 AZF STS markers). These last authors reported that 9 out of 10 of the deleted subjects were azoospermic, and one was oligospermic and that AZFc was the most frequent deletion.…”

Section: Discussionmentioning

confidence: 90%

Partial Microdeletions in the Y-Chromosome AZFc Region Are Not a Significant Risk Factor for Spermatogenic Impairment in Tunisian Infertile Men

Ghorbel¹,

Gargouri²,

Zribi³

et al. 2012

Genetic Testing and Molecular Biomarkers

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Azoospermia factor (AZF) subdeletions were reported to be significant risk factors for spermatogenesis. In this study, we screened classical and partial microdeletions of the Y-chromosome AZF region in a group of 261 infertile men. Partial deletions were also screened in a control group of fertile men (n=124). In addition, Y haplogroups were analyzed in 24 gr/gr deleted patients. Among the 261 studied infertile men, seven subjects were found to have classical microdeletions. The most common partial deletion of AZFc (gr/gr) was observed in 13.02% of infertile men and in 12.90% of fertile men. The b1/b3 deletion was identified in 4.98% of infertile men and in 2.41% of fertile men. In addition, the b2/b3 deletion was identified in 1.53% of infertile patients but not in the control group. Our results suggest that partial AZFc deletions are not associated with spermatogenic failure in the Tunisian population.

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“…The low incidence of microdeletions is in strong contrast to other countries in the geographic areas such as Egypt (El Awady et al, ), Tunisia (Rejeb. et al, ), and Iran (Yousefi‐Razin, Nasiri, & Omrani, ) where about 12% microdeletions were found among severely oligozoospermic or azoospermic men. In 66 (7.5%) of 880 patients with nonobstructive azoospermia from the Middle East, but not specifying the individual nationality, AZF deletions were detected, most frequently AZFb deletions (33.3%), but also AZFbc deletions in 17% (Alhalabi et al, ).…”

Section: Discussionmentioning

confidence: 98%

Genetic investigations on causes of male infertility in Western Saudi Arabia

et al. 2019

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In recent years, genetic studies have yielded great progress in elucidating causes of male infertility. This investigation aims to identify frequent genetic abnormalities, that is, sex chromosome aneuploidies and Y‐chromosome microdeletions among infertile men in Western Saudi Arabia. From a population of infertile patients, 88 male patients with either azoospermia or severe oligozoospermia (sperm concentration <5 million/ml) were selected. In addition to a thorough clinical workup, karyotypes and Y‐chromosomal microdeletions were investigated. Among those 88 infertile patients, we detected six patients with Klinefelter syndrome, two with 47 XYY syndrome and two with Y‐chromosome microdeletions AZFb,c. While the prevalence of sex chromosome aneuploidies was in the range of globally investigated populations, the microdeletions appeared to be less frequent in Western Saudi Arabia compared to other regions of the world. All genetically abnormal cases showed sperm concentration <1 million/ml, and hence, this appears to be the threshold for warranting genetic investigations in Western Saudi Arabia. Since Klinefelter and 47 XYY syndromes were only discovered late in life, upon an infertility investigation, sex chromosome aneuploidies due to their many‐fold comorbidities require earlier medical attention. A neonatal screening programme is suggested for detection of these aneuploidies in Saudi Arabia for the general health benefit of these patients.

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Y chromosome microdeletions in Tunisian infertile males

Cited by 14 publications

References 23 publications

Y chromosome microdeletions screening in Tunisian infertile men

Y chromosome microdeletions screening in Tunisian infertile men

Partial Microdeletions in the Y-Chromosome AZFc Region Are Not a Significant Risk Factor for Spermatogenic Impairment in Tunisian Infertile Men

Genetic investigations on causes of male infertility in Western Saudi Arabia

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