The incidence of Y-chromosome microdeletions in Pakistani infertile men

2011 ◽  
Vol 22 ◽  
pp. S42
Author(s):  
Nosheen Mujtaba ◽  
Mamoona Naz ◽  
Saima Perveen ◽  
Mamoona Yasmin ◽  
Fida Haider ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

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

scholarly journals Obstetric and perinatal outcomes of intracytoplasmic sperm injection for infertile men with Y chromosome microdeletions

Medicine ◽  
2019 ◽  
Vol 98 (41) ◽  
pp. e17407
Author(s):  
Qi Xi ◽  
Zhihong Zhang ◽  
Ruixue Wang ◽  
Linlin Li ◽  
Leilei Li ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection ◽  
Perinatal Outcomes ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

scholarly journals Challenging the guidelines: Proposal of a new sperm concentration cut-off for Y chromosome microdeletions testing in primary infertile men

2020 ◽  
Vol 19 ◽  
pp. e541-e542
Author(s):  
W. Cazzaniga ◽  
P. Capogrosso ◽  
L. Boeri ◽  
E. Ventimiglia ◽  
E. Pozzi ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sperm Concentration ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

Y Chromosome Microdeletions and Partial AZFc Deletions in Infertile Men from South India

2016 ◽  
Vol 13 (12) ◽  
pp. 1-10 ◽  
Author(s):  
Jaganathan Suganya ◽  
Smita Kujur ◽  
Kamala Selvaraj ◽  
Muthiah Suruli ◽  
Geetha Haripriya ◽  
...  
Keyword(s):  
Y Chromosome ◽  
South India ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

scholarly journals Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions

2011 ◽  
Vol 96 (4) ◽  
pp. E674-E679 ◽  
Author(s):  
Carolina J. Jorgez ◽  
John W. Weedin ◽  
Aysegul Sahin ◽  
Mounia Tannour-Louet ◽  
Shuo Han ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Quantitative Pcr ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
Structural Defects ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Pseudoautosomal Regions

Abstract Context: The pseudoautosomal regions (PARs) of the Y-chromosome undergo meiotic recombination with the X-chromosome. PAR mutations are associated with infertility and mental and stature disorders. Objective: The aim of the study was to determine whether men with Y-chromosome microdeletions have structural defects in PARs. Design and Participants: Eighty-seven infertile men with Y-chromosome microdeletions and 35 controls were evaluated for chromosomal rearrangements using commercial or custom (X- and Y-chromosome) array comparative genomic hybridization or by quantitative PCR of selected PAR genes. Multisoftware-defined chromosomal gains or losses were validated by quantitative PCR and FISH. Results: Array comparative genomic hybridization confirmed the AZF deletions identified by multiplex PCR. All men with Y-chromosome microdeletions and an abnormal karyotype displayed PAR abnormalities, as did 10% of men with Y-chromosome microdeletions and a normal karyotype. None of the control subjects or infertile men without Y-chromosome microdeletions had PAR duplications or deletions. SHOX aberrations occurred in 14 men (nine gains and five losses); four were short in stature (<10th percentile), and one was tall (>95th percentile). In contrast, the height of 23 men with Y-chromosome microdeletions and normal PARs was average at 176.8 cm (50th percentile). Conclusions: Y-chromosome microdeletions can include PAR defects causing genomic disorders such as SHOX, which may be transmitted to offspring. Previously unrecognized PAR gains and losses in men with Y-chromosome microdeletions may have consequences for offspring.

scholarly journals Y chromosome microdeletions in infertile male candidates for microfertilization

2008 ◽  
Vol 136 (3-4) ◽  
pp. 126-130
Author(s):  
Momcilo Ristanovic ◽  
Vera Bunjevacki ◽  
Cane Tulic ◽  
Ivana Novakovic ◽  
Tatjana Ille ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sperm Count ◽  
Gene Mutations ◽  
Control Group ◽  
Specific Primers ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Polymerase Chain

Introduction Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome. Objective The aim of the study was to determine the frequency of Y chromosome microdeletions in a group of infertile men with an idiophatic cause of infertility, candidates for microfertilization (Intra-cytoplasmic Sperm Injection - ICSI) in Serbia and to correlate genotype-phenotype in patients with Y chromosome microdeletions. METHOD One hundred and sixty patients with low sperm count (less than 5x106 spermatozoa/ml) were enrolled in the study. Forty patients were excluded from the study: ten because they were diagnosed with cytogenetic abnormality and thirty patients were diagnosed with other known causes of infertility. The control group consisted of 150 men who fathered at least one child in the last two years. Genomic DNA was extracted from peripheral blood samples and two multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. Results Microdeletions were detected in 12 of 120 (10%) cases, while no deletions were detected in the control group. Of total number of 12 deletions, nine were detected in AZFc region (75%), one in AZFa (8%), and two in AZFbc (17%). Conclusion Testing for Y chromosome microdeletions should be considered as an important element in diagnosis and genetic counselling of infertile couples in Serbia. Decisions regarding the assisted reproduction should be made based on the detailed clinical, endocrinological and cytogenetic examinations, spermogram, presence or absence and type of AZF microdeletions and CFTR gene mutations. .

scholarly journals Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China

2019 ◽  
Vol 48 (4) ◽  
pp. 030006051989671
Author(s):  
Jing Sha ◽  
Guiping Huang ◽  
Bei Zhang ◽  
Xia Wang ◽  
Zaochun Xu ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Assisted Reproduction ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Eastern China ◽  
Peripheral Blood Lymphocytes ◽  
Specific Sequence ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

Objective The objective was to investigate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia to ensure appropriate genetic counseling before assisted reproduction in Eastern China. Methods A total of 201 infertile men (148 with azoospermia and 53 with oligozoospermia) were enrolled. Real-time PCR using six Y-specific sequence-tagged sites of the azoospermia factor (AZF) region was performed to screen for microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Results Out of 201 infertile patients, 22 (10.95%) had Y microdeletions [17/148 (11.49%) men with azoospermia and 5/53 (9.43%) men with oligozoospermia]. The most frequent microdeletions were in the AZFc region, followed by the AZFa+b + c, AZFb+c, AZFa, and AZFb regions. Chromosomal abnormalities were detected in 18.91% (38/201) of patients, 34 of which were sex chromosome abnormalities (16.92%) and 4 of which were autosomal abnormalities (1.99%). Chromosomal abnormalities were more prevalent in men with azoospermia (22.97%) than in those with oligozoospermia (7.55%). Conclusions We detected a high incidence of chromosomal abnormalities and Y chromosomal microdeletions in infertile Chinese men with azoospermia and oligozoospermia. These findings suggest the need for genetic testing before the use of assisted reproduction techniques.

Y chromosome microdeletions in Turkish infertile men

2006 ◽  
Vol 12 (2) ◽  
pp. 66 ◽  
Author(s):  
AyseGul Zamani ◽  
Ruhusen Kutlu ◽  
HGul Durakbasi-Dursun ◽  
Huseyin Gorkemli ◽  
Aynur Acar
Keyword(s):  
Y Chromosome ◽  
Infertile Men ◽  
Y Chromosome Microdeletions
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