Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China

Andrologia ◽  
2013 ◽  
Vol 46 (5) ◽  
pp. 535-540 ◽  
Author(s):  
Y.-S. Zhang ◽  
R.-L. Dai ◽  
R.-X. Wang ◽  
Z.-H. Zhang ◽  
E. Fadlalla ◽  
...  
Keyword(s):  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Infertile Men

Detection Y Chromosome Microdeletions Among Iraq Population in Infertile Patients with Azoospermia and Severe Oligospermia

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Samah A Hammood ◽  
Alaauldeen S M AL-Sallami ◽  
Saleh M Al-Khafaji
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Detailed Evaluation ◽  
Health Organization ◽  
Infertile Patients

Objective: To detection of microdeletions of Y chromosome and study the frequency of microdeletions in infertile men with non-obstructive azoospermia or severe oligozoospermia(Middle Euphrates center)in Iraq population. Material and methods: 153 males were included in the study, the casesweredivided into groups according to the infertility etiology and semen analysis according to Word health organization, the frequencies and the characteristicsof Y chromosome microdeletions were investigated in groups. Multiplex PCR was applied to detect the microdeletions. Results:Y chromosome microdeletion was detected in 42 (40.7%) of 153 cases ,Microdeletions in azoospermia showed more frequently detected 28 (52.8%), followed by severe oligospermia 14 (28 %),Microdeletions in the AZFc region were the most common 12 (22.64%), followed by AZFb 11(20.75%) and AZFa 5(9.43%) in azoospermia compared to severe oligospermisAZFc 6 (12%) AZFb 4 (8 %) and AZFa 4 (8%). Conclusion: Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluationsand when required, karyotype analysis may predict the patients for whom Y chromosome microdeletionanalysis is necessary and also prevent cost increases. Recommendation: This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intracytoplasmic sperm injection

Analysis of partial azoospermia factor c deletion andDAZcopy number in azoospermia and severe oligozoospermia

Andrologia ◽  
2016 ◽  
Vol 48 (9) ◽  
pp. 978-982 ◽  
Author(s):  
L. Alimardanian ◽  
K. Saliminejad ◽  
S. Razi ◽  
A. Ahani
Keyword(s):  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Factor C

Mutations analysis of the HSP90 gene in infertile men with idiopathic azoospermia and severe oligozoospermia

2002 ◽  
Vol 78 ◽  
pp. S264
Author(s):  
Lidia Yamamoto ◽  
Samira Lima ◽  
Joao B Pesquero ◽  
Agnaldo Cedenho ◽  
Pericles Hassun
Keyword(s):  
Severe Oligozoospermia ◽  
Infertile Men

Severe Oligozoospermia Resulting From Deletions of Azoospermia Factor Gene on Y Chromosome

1996 ◽  
Vol 51 (11) ◽  
pp. 675-676
Author(s):  
Renee Reijo ◽  
Raaji K. Alagappan ◽  
Pasquale Patrizio ◽  
David C. Page
Keyword(s):  
Y Chromosome ◽  
Severe Oligozoospermia ◽  
Factor Gene ◽  
Azoospermia Factor

scholarly journals Azoospermia factor deletions in varicocele cases with severe oligozoospermia

2007 ◽  
Vol 61 (9) ◽  
pp. 505 ◽  
Author(s):  
Rima Dada ◽  
R Kumar ◽  
MB Shamsi ◽  
T Sidhu ◽  
A Mitra ◽  
...  
Keyword(s):  
Severe Oligozoospermia ◽  
Azoospermia Factor

scholarly journals A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Pille Hallast ◽  
Laura Kibena ◽  
Margus Punab ◽  
Elena Arciero ◽  
Siiri Rootsi ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
Gene Dosage ◽  
Severe Oligozoospermia ◽  
Azoospermia Factor ◽  
Reproductive Decision Making ◽  
High Penetrance ◽  
Carrier Identification ◽  
Factor C ◽  
Spermatogenic Failure

Male infertility is a prevalent condition, affecting 5–10% of men. So far, few genetic factors have been described as contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c (AZFc) region, combined with gene dosage analysis of the multicopy DAZ, BPY2, and CDYgenes and Y-haplogroup determination. In analysing 2324 Estonian men, we uncovered a novel structural variant as a high-penetrance risk factor for male infertility. The Y lineage R1a1-M458, reported at >20% frequency in several European populations, carries a fixed ~1.6 Mb r2/r3 inversion, destabilizing the AZFc region and predisposing to large recurrent microdeletions. Such complex rearrangements were significantly enriched among severe oligozoospermia cases. The carrier vs non-carrier risk for spermatogenic failure was increased 8.6-fold (p=6.0×10−4). This finding contributes to improved molecular diagnostics and clinical management of infertility. Carrier identification at young age will facilitate timely counselling and reproductive decision-making.

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