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

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

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

2012 ◽  
Vol 16 (8) ◽  
pp. 931-934 ◽  
Author(s):  
Kioomars Saliminejad ◽  
Mohammad Reza Sadeghi ◽  
Koorosh Kamali ◽  
Naser Amirjannati ◽  
Haleh Soltanghoraee ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

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

2021 ◽  
Author(s):  
Erdenesuvd Damdinsuren ◽  
Purevjargal Naidansuren ◽  
Mendsaikhan Gochoo ◽  
Bum-Chae Choi ◽  
Min Youp Choi ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Semen Parameters ◽  
P Value ◽  
Partial Deletion ◽  
Severe Oligozoospermia ◽  
Y Chromosome Microdeletion ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
First Case ◽  
Complete Deletion

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.

scholarly journals Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches

BMC Urology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hassan Osman Alhassan Elsaid ◽  
Tarteel Gadkareim ◽  
Tagwa Abobakr ◽  
Eiman Mubarak ◽  
Mehad A. Abdelrhem ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Klinefelter Syndrome ◽  
Semen Analysis ◽  
Control Group ◽  
Male Factor ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Infertile Men ◽  
Significant Difference ◽  
Fisher’S Exact Test

Abstract Background Male factor is the major contributor in roughly half of infertility cases. Genetic factors account for 10–15% of male infertility. Microdeletions of azoospermia factors (AZF) on the Yq region are the second most frequent spermatogenesis disorder among infertile men after Klinefelter syndrome. We detected in our previous study a frequency of 37.5% AZF microdeletions which investigated mainly the AZFb and AZFc. We attempted in this study for the first time to evaluate the frequencies of all AZF sub-regions microdeletions and to analyze reproductive hormonal profiles in idiopathic cases of azoospermic and oligozoospermic men from Sudan. Methods A group of 51 medically fit infertile men were subjected to semen analysis. Four couples have participated in this study as a control group. Semen analysis was performed according to WHO criteria by professionals at Elsir Abu-Elhassan Fertility Centre where samples have been collected. We detected 12 STSs markers of Y chromosome AZF microdeletions using a multiplex polymerase chain reaction. Analysis of reproductive hormone levels including Follicle Stimulating, Luteinizing, and Prolactin hormones was performed using ELISA. Comparisons between outcome groups were performed using Student’s t-test Chi-square test or Fisher’s exact test. Results AZF microdeletion was identified in 16 out of 25 Azoospermic and 14 out of 26 of the Oligozoospermic. Microdeletion in the AZFa region was the most frequent among the 30 patients (N = 11) followed by AZFc, AZFd (N = 4 for each) and AZFb (N = 3). Among the Oligozoospermic participants, the most frequent deletions detected were in the AZFa region (N = 10 out of 14) and was significantly associated with Oligozoospermic phenotype, Fisher's Exact Test (2-sided) p = 0.009. Among the Azoospermic patients, the deletion of the AZFc region was the most frequent (N = 9 out of 16) and was significantly associated with Azoospermia phenotype Fisher's Exact Test p = 0.026. There was a significant difference in Y chromosome microdeletion frequency between the two groups. The hormonal analysis showed that the mean levels of PRL, LH, and FSH in Azoospermic patients were slightly higher than those in oligozoospermic. A weak negative correlation between prolactin higher level and Azoospermic patients was detected. (AZFa r = 0.665 and 0.602, p = 0.000 and 0.0004, AZFb r = 0.636 and 0.409, p = 0.000 and 0.025, and AZFd r = 0.398 and 0.442, p = 0.029 and 0.015). The correlation was positive for AZFa and negative for AZFb and AZFd. Conclusions We concluded in this study that the incidences of microdeletions of the Y chromosome confined to AZF a, b, c and d regions is 58.8% in infertile subjects with 31.4% were Azoospermic and 27.5% were Oligozoospermic. This might provide a piece of evidence that these specified regions of the Y chromosome are essential for controlling spermatogenesis. These findings will be useful for genetic counseling within infertility clinics in Sudan and to adopt appropriate methods for assisted reproduction.

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

scholarly journals Partial Deletions of Y-Chromosome in Infertile Men with Non-obstructive Azoospermia and Oligoasthenoteratozoospermia in a Turkish Population

In Vivo ◽  
2017 ◽  
Vol 31 (3) ◽  
pp. 363-371 ◽  
Author(s):  
CEMALLETTIN CENGIZ BEYAZ ◽  
SEZGIN GUNES ◽  
KADIR ONEM ◽  
TUBA KULAC ◽  
RAMAZAN ASCI
Keyword(s):  
Y Chromosome ◽  
Turkish Population ◽  
Obstructive Azoospermia ◽  
Infertile Men

The polymorphisms of NR5A1 gene in azoospermic men in Sichuan, China

2020 ◽  
Author(s):  
Lanyue Cui ◽  
Jiaoyu He ◽  
Junhang Deng ◽  
Zhilin Song ◽  
Qiufu Li ◽  
...  
Keyword(s):  
Male Infertility ◽  
Missense Mutation ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Transcriptional Regulator ◽  
Organ Development ◽  
Steroidogenic Factor 1 ◽  
Beta Strand ◽  
Susceptibility Factor ◽  
Infertile Men

Abstract Background: Steroidogenic factor 1 (SF1, NR5A1) is a key transcriptional regulator involved in the hypothalamic-pituitary-steroidogenic organ development. Recently, heterozygous mutations in NR5A1 were found may contribute to the male infertility aetiology. Here, we investigated the association of polymorphisms in NR5A1 gene with azoospermic men in Sichuan, China. Methods: We have performed the NR5A1 gene direct secquencing in a cohort of 102 well-characterised idiopathic Chinese azoospermic infertile men versus 103 fertile men, who were selected by Semen analysis, Karyotype analysis and Y-chromosomal AZF deletion screening. We identified two previously described missense p. Results: Gly146Ala (rs1110061; c.437 G>C) and p.Arg313His (c.938G>A), and the frequency of 437C ( [OR] 1.846, 95% [CI] 1.227-2.778, P=0.003), 437GC (OR =1.884 , 95% CI =1.037-3.422 , P =0.037 ) and 437CC (OR =3.586 , 95% CI =1.397-9.206 , P =0.006 ) were found to be increased significantly in azoospermic patients while no mutations in control .Moreover, one novel heterozygous p.Ser322ILe (c.965 G >A) missense mutation was found in 8 patients which highly conserved serine to isoleucine shown in the Beta strand domain on SF-1 protein. Conclusions: This is the first study, according to our knowledge, to investigate the association between the polymorphisms of NR5A1 gene and azoospermic men in China, and these results suggest that the Gly146Ala polymorphism may be a susceptibility factor for the azoospermic men in Sichuan, China.

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
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