Prevalence of Y Chromosome Microdeletion Among Mongolian Infertile Men With Azoospermia and Severe Oligozoospermia

Abstract Backgound: Y chromosome microdeletions are the second most common genetic causes in male infertility. The aim of the present study was to reveal the patterns of Y chromosome microdeletions among Mongolian infertile men. Method: A descriptive study was performed to 75 infertile men during February 2017 to December 2018. Y chromosome microdeletions were identified by PCR. Semen parameters, hormonal levels, testis biopsy were determined. All collected data were evaluated with Statistical Package for Social Sciences (SPSS, version 22.0).Results: Among 75 infertile men, 2 cases of Y chromosome microdeletions were determined (2.66%). The first case had AZFa complete deletion and the other one had AZFc partial deletion. The azoospermia patient with AZFa complete deletion had Sertoli cell only syndrome in the testis biopsy, FSH 58.0 mIU/ml and LH 12.0 mIU/ml. The azoospermia patient with AZFc partial deletion showed FSH 23.85 mIU/ml and LH 13.01 mIU/ml. Serum FSH level was significantly higher in the Y chromosome microdeletion patients (p value 0.016). Conclusion: This study determined Y chromosome microdeletion among Mongolian infertile men to be at 2.66%. Our results showed FSH level is the best predictor of a successful TESE. However, best cut off value for FSH was 9.69 mIU/ml with a sensitivity and specificity 85.6% and 83.3% respectively. There is a possibility that sperm retrieval will be difficult from the TESE since the testicular tissue is severely damaged. The findings can be applied to IVF and Assisted Reproductive Techonology, and our results will help clinicians improve treatment management for Mongolian infertile couples.

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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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Discrepancy in the Frequency of Y Chromosome Microdeletions Among Iranian Infertile Men with Azoospermia and Severe Oligozoospermia

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2011.0378 ◽

2012 ◽

Vol 16 (8) ◽

pp. 931-934 ◽

Cited By ~ 6

Author(s):

Kioomars Saliminejad ◽

Mohammad Reza Sadeghi ◽

Koorosh Kamali ◽

Naser Amirjannati ◽

Haleh Soltanghoraee ◽

...

Keyword(s):

Y Chromosome ◽

Severe Oligozoospermia ◽

Infertile Men ◽

Y Chromosome Microdeletions

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The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population

Yeni Üroloji Dergisi ◽

10.33719/yud.2021;16-2-834672 ◽

2021 ◽

pp. 159-164

Author(s):

Yavuz Onur Danacıoglu ◽

Mustafa Gürkan Yenice ◽

Fatih Akkas ◽

Mustafa Soytas ◽

Serhat Seyhan ◽

...

Keyword(s):

Y Chromosome ◽

Sex Chromosome ◽

Klinefelter Syndrome ◽

Assisted Reproductive Techniques ◽

Obstructive Azoospermia ◽

Severe Oligozoospermia ◽

Genetic Causes ◽

Infertile Men ◽

Y Chromosome Microdeletions ◽

Reproductive Techniques

Objective: Advances in the science of genetics and the development of assisted reproductive techniques focus on the genetic causes of infertility. The aim of this research is to reveal genetic abnormalities in terms of sex chromosome aneuploidy and Y chromosome microdeletions. Material and Methods: A total of 350 patients with azoospermia or severe oligozoospermia were selected. After general examination of the patients and laboratory investigations were performed, cartoypes and Y chromosome microdeletions were examined. Results: A total of 225 infertile men with non-obstructive azoospermia (NOA) and 125 infertile men with oligozoospermia were enrolled into the study. The overall cytogenetic anomaly rate was 16%. Chromosomal changes were detected in 32 of 350 (9.1%) cases. The most common genetic anomaly was 47, XXY (Klinefelter syndrome) and the incidence was 11.5% in NOA group. This rate was 3.2% in oligozoospermia group. Y chromosome microdeletions were detected in 24 (6.8%) patients and similarly, it was observed more frequently in the NOA group than in the oligozoospermia group. Conclusion: The incidence of genetic causes have been increasing with the severity of infertility. As a result, genetic screening and appropriate genetic counseling are needed before the use of assisted reproductive techniques. Keywords: azospermia, chromosome, infertility, microdeletion, oligozoospermiaage

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Reply to Alberto Ferlin’s Letter to the Editor, re: Taylor P. Kohn, Jaden R. Kohn, Ryan C. Owen, R. Matthew Coward. The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review, Meta-analysis of European, North American Studies. Eur Urol 2019, 76:626–36. Indication for Y Chromosome Microdeletion Analysis in Infertile Men Should Not be, Based Merely on Sperm Concentration

European Urology ◽

10.1016/j.eururo.2020.01.013 ◽

2020 ◽

Vol 77 (4) ◽

pp. e98-e99

Author(s):

Taylor P. Kohn ◽

Jaden R. Kohn ◽

Ryan C. Owen ◽

R. Matthew Coward

Keyword(s):

Systematic Review ◽

Y Chromosome ◽

North American ◽

American Studies ◽

Meta Analysis ◽

Sperm Concentration ◽

Y Chromosome Microdeletion ◽

Infertile Men ◽

Y Chromosome Microdeletions ◽

European North

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Molecular Screening for Y Chromosome Microdeletions in Egyptian Infertile Men with Severe Oligozoospermia

Trends in Medical Research ◽

10.3923/tmr.2017.20.25 ◽

2017 ◽

Vol 12 (1) ◽

pp. 20-25

Author(s):

Zakaria Mahran ◽

Rabie Bedir ◽

Mekky Abdel Mone ◽

Osama Shahat

Keyword(s):

Y Chromosome ◽

Molecular Screening ◽

Severe Oligozoospermia ◽

Infertile Men ◽

Y Chromosome Microdeletions

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Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study

International Journal of Reproductive BioMedicine ◽

10.18502/ijrm.v19i2.8473 ◽

2021 ◽

Author(s):

Meenakshi Arumugam ◽

Deyyanthody Prashanth Shetty ◽

Jayarama Shanker Kadandale ◽

Suchetha Nalilu Kumari

Keyword(s):

Polymerase Chain Reaction ◽

Y Chromosome ◽

Chromosome 9 ◽

Semen Parameters ◽

Chain Reaction ◽

Y Chromosome Microdeletion ◽

Sequence Tagged Sites ◽

Infertile Men ◽

Polymerase Chain ◽

Factor C

Background: Infertility affects about 15% of couples worldwide, and the male factor alone is responsible for approximately 50% of the cases. Genetic factors have been found to play important roles in the etiology of azoospermia and severe oligospermia conditions that affect 30% of individuals seeking treatment at infertility clinics. Objective: To determine the frequency of chromosomal abnormalities and Y chromosome microdeletion in infertile men. Materials and Methods: A total of 100 infertile men with abnormal semen parameters were included in this study from 2014 to 2018. Chromosomal analysis was carried out using standard G-banding using Trypsin Giemsa protocol. Multiplex polymerase chain reaction was used to determine the Y microdeletion frequency. Results: All participants were aged between 22 and 48 yr with a mean and standard deviation of 35.5 ± 5.1. Of the 100 subjects included in the study, three had Klinefelter syndrome-47,XXY, one had balanced carrier translocation- 46,XY,t(2;7)(q21;p12), one with the balanced carrier translocation with inversion of Y chromosome 45,XY,der(13;14)(q10;q10),inv(Y), one had polymorphic variant of chromosome 15, one had Yqh-, and another had an inversion of chromosome 9. Y chromosome microdeletion of Azoospermia factor c region was observed in 2% of the cases. To the best of our knowledge, the current study is the first reported case with unique, balanced carrier translocation of chromosome 2q21 and 7p21. Conclusion: The present study emphasizes the importance of routine cytogenetic screening and Y microdeletion assessment for infertile men, which can provide specific and better treatment options before undergoing assisted reproductive technology during genetic counseling. Key words: Chromosome aberrations, Infertility, Chromosome deletion, Polymerase chain reaction, Sequence tagged sites.

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