Assisted reproductive technology outcomes of infertile men carrying balanced chromosomal rearrangements or Y-chromosome microdeletions – Retrospective study

Abstract Background: Structural abnormalities of Y chromosome are commonly described in associated with the occurrence of a 45,X/46,XY chromosomal mosaicism. In recent years, evidences of an association between Y chromosome microdeletions and 45,X/46,XY mosaicism had been investigated, and 45,X/46,XY mosaicism was found to be particularly common in patients with Y chromosome microdeletions. The aim of our study was to investigate the presence of 45,X/46,XY mosaicism carrying a structurally abnormal Y chromosome in patients with Y chromosome microdeletions.Results: A 8-year retrospective study was conducted on 6545 infertile men with nonobstructive azoospermia or oligozoospermia. A total of 19 patients with 45,X/46,XY mosaicism or its variants were found, of which 78.95% (15/19) had a structural Y chromosome abnormalities in 46,XY cell line. Thirteen of 19 (68.42%, 13/19) patients with 45,X/46,XY mosaicism had Y chromosome microdeletions, and 12/13 (92.31%) of them exhibited a structurally abnormal Y chromosome.Conclusions: Our results were consistent with previous studies that a high frequency of 45,X/46,XY mosaicism or its variants were detected in patients with Y chromosome microdeletions. Different from previous studies, we found that 45,X/46,XY mosaicism in patients with Y chromosome microdeletions almost all exhibited a structurally abnormal Y chromosome.

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

International Journal of Drug Delivery Technology ◽

10.25258/ijddt.9.2.23 ◽

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

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