scholarly journals Analysis of fertility potential in men with severe azoospermia and oligospermia of various etiology

2018 ◽  
Vol 19 (3) ◽  
pp. 60-69
Author(s):  
T. A. Yamandi ◽  
L. V. Akulenko ◽  
N. Yu. Safina ◽  
I. I. Vityazeva ◽  
S. V. Bogolubov ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Molecular Genetic ◽  
Normal Karyotype ◽  
Severe Oligozoospermia ◽  
Study Objective ◽  
Negative Results ◽  
Y Chromosome Microdeletions ◽  
Genetic Examination ◽  
Fertility Potential ◽  
Azf Region

The study objective is to evaluate the significance of the Y chromosome microdeletions for prediction of spermatozoa retrieval during testicle biopsy in men with severe azoospermia and oligozoospermia.Materials and methods. In total, 109 men aged 21 to 56 years (mean age 32.7 ± 0.2 years) with infertility in marriage were examined. Cytogenetic, special andrological, spermiological, and molecular genetic examinations were performed to evaluate non-genetic and genetic causes of infertility.Results. Normal karyotype and absence of AZF deletions were found in 75 men, presence of deletions – in 34. The frequencies of pathozoospermia forms were comparable in these groups. Spermatozoa were retrieved during biopsy in 47 (62.7 %) patients without Y chromosome microdeletions and only in 7 (20.6 %) patients with Y chromosome microdeletions. The men with AZF deletions were divided into 2 subgroups: men with complete AZF region deletions (n = 25) and men with partial AZF deletions (n = 9). Among men with complete deletions, azoospermia was diagnosed in 25 (100 %), spermatozoa were retrieved during biopsy in 2 (8 %); among men with partial deletions, azoospermia was diagnosed in 7 (77.8 %), severe oligozoospermia in 2 (22.2 %), spermatozoa were retrieved during biopsy in 5 (56 %). Then the patients were divided according to another criterion: 54 patients from whom spermatozoa were retrieved during biopsy and 55 men with negative results. Among patients with successful result of biopsy, Y chromosome microdeletions were identified in 7 (13 %); among patient with negative biopsy result – in 27 (49 %) (р < 0.01).Conclusion. Success rate of spermatozoa retrieval during testicle biopsy is significantly higher in men without AZF deletions (р < 0.01) than in men with deletions. Molecular genetic examination of Y chromosome microdeletions is recommended for men with azoospermia and severe oligozoospermia because it allows diagnosing of cause male infertility and predicting.

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 Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

2017 ◽  
Vol 19 (3) ◽  
pp. 338 ◽  
Author(s):  
Mário Sousa ◽  
Carolina Gonçalves ◽  
Mariana Cunha ◽  
Eduardo Rocha ◽  
Susana Fernandes ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Nonobstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Y Chromosome Microdeletions

scholarly journals The frequency of terminal deletions sY160 among men with microdeletions of AZFc region Y-chromosome

1970 ◽  
Vol 21 ◽  
pp. 301-305
Author(s):  
I. Ye. Haiboniuk ◽  
M. Ya. Tyrkus ◽  
H. V. Makukh
Keyword(s):  
Y Chromosome ◽  
Molecular Genetic ◽  
Terminal Deletion ◽  
Molecular Genetic Study ◽  
Salting Out ◽  
Azfc Region ◽  
Specific Pcr ◽  
Allele Specific ◽  
Keywords Male Infertility ◽  
Azf Region

Aim. Determine the frequency of absence marker terminal deletions sY160 among men with microdeletions of AZFc region Y-chromosome. Methods. DNA from probands blood samples was isolated using a modified salting out method. Microdeletions of Y chromosome AZF region were analyzed using two multiplex PCR. The molecular-genetic study of terminal deletions (absence of sY160) was carried out using allele-specific PCR and analysed by electrophoresis in a 2 % agarose gel. Results. Among infertile men (1500 individuals), Y chromosome microdeletions were detected in 7% males: microdeletions of AZFa subregion in 1 %, AZFb subregion – 3 %, AZF(b+c) subregions – 15 %, AZFc subregion – 67 %. The presence of heterochromatin marker sY160 was confirmed in 39 cases (84.8 %) and absence of sY160 in 7 men (15.2 %). Absence of sY160 was detected in 2 men with AZFc microdeletion and in 5 men with AZFb+AZFc microdeletions. It is important to point out that terminal AZFc deletion was confirmed in 83.3 % of cases of AZFb+c microdeletions and only in 5.1 % of isolated AZFc microdeletions. Conclusions. Thus, among 15.2 % man with different AZF microdeletions of Y-chromosome the heterochromatin marker of terminal deletion sY160 was absents. The implementation of testing of marker of terminal deletion – sY160 may help to determine if the deletion corresponds to the b2/b4 pattern and to avoid biopsy in man which most likely not benefit from the surgical procedure. Keywords: male infertility, spermatogenesis, Y chromosome, AZF region, terminal deletions.

Prognostic factors for the success of obtaining spermatozoa with a biopsy of testicular tissue in men with severe forms of pathozoospermia

2020 ◽  
pp. 96-97
Author(s):  
Т.А. Яманди ◽  
Н.Ю. Сафина ◽  
В.Б. Черных ◽  
Л.В. Акуленко
Keyword(s):  
Prognostic Factors ◽  
In Vitro Fertilization ◽  
Y Chromosome ◽  
Testicular Biopsy ◽  
Testicular Tissue ◽  
Inhibin B ◽  
Severe Oligozoospermia ◽  
Vitro Fertilization ◽  
Azf Region

Приводятся данные обследования мужчин с азооспермией и олигозооспермией тяжелой степени, имеющих и не имеющих микроделеции длинного плеча Y-хромосомы, а также результаты биопсии тестикулярной ткани. Отсутствие делеций региона AZF, отсутствие гипоплазии яичек, а также нормальные показатели ФСГ, ЛГ и ингибина В являются прогностически благоприятными критериями в отношении успешности получения сперматозоидов при биопсии ткани яичка для проведения экстракорпорального оплодотворения (ЭКО). The article presents the results of a survey of men with azoospermia and severe oligozoospermia, with and without microdeletion of the long arm of the Y chromosome, as well as the results of a testicular biopsy. The absence of deletions of the AZF region, the absence of testicular hypoplasia, as well as normal levels of FSH, LH and inhibin B are prognostically favorable criteria for the success of obtaining spermatozoa with a biopsy of testicular tissue for in vitro fertilization (IVF).

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

Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients

2017 ◽  
Vol 153 (4) ◽  
pp. 190-197 ◽  
Author(s):  
Shin Y. Kim ◽  
Bom Y. Lee ◽  
Ah R. Oh ◽  
So Y. Park ◽  
Hyo S. Lee ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Klinefelter Syndrome ◽  
Nonobstructive Azoospermia ◽  
Specific Sequence ◽  
Azoospermia Factor ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Genetic Abnormalities ◽  
Azf Region

To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.

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

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 The Spectrum of Common Mutations in CFTR, AR Gene, and the Y Chromosome Microdeletions and Karyotyping Abnormalities in Phenotypic Male with Very Severe Oligozoospermia

2021 ◽  
Author(s):  
kyumars safinejad ◽  
Leyla Jafari ◽  
Mahboobeh Nasiri ◽  
Mansour Heidari ◽  
Massoud Houshmand
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Gene Mutation ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Compound Heterozygous ◽  
Structural Abnormality ◽  
Severe Oligozoospermia ◽  
Cag Repeat Expansion ◽  
Y Chromosome Microdeletions

Abstract Male infertility due to very severe oligozoospermia has been associated with a number of genetic risk factors.This association in patients with sperm concentration lower than 1× 106 ml are not yet fully studied.The present study aims to investigate the distribution of the mutations in the CFTR gene, the CAG repeat expansion of the AR gene as well as Y chromosome microdeletions and karyotyping abnormalities in very severe oligozoospermia patients from the Iranian population. In the present case-control study 200 severe oligozoospermia and 200 fertile males were enrolled. All patients karyotyped for diagnosis of the chromosomal abnormalities using routine. Microdeletions were evaluated using multiplex PCR. Five common CFTR mutations were genotyped using the ARMS-PCR technique. The CAG repeat expansion in the AR gene was evaluated for the number of repeats in each patient using sequencing. Overall, 4% of cases have a numerical and structural abnormality. 7.5% of patients had a deletion in one of the AZF regions on Yq, and 3.5% had a deletion in two regions. F508del was the most common (4.5%) CFTR gene mutation, G542X, and W1282X were detected with 1.5% and 1% respectively. One patient was found to have AZFa microdeletion and F508del in heterozygote form; one patient had AZFb microdeletion with F508del. F508del was seen as compound heterozygous with G542X in one patient and with W1282X in the other patient. The difference in the mean of the CAG repeat in the AR gene in patients and controls were statistically significant (P = 0.04). Our study shows that ICSI in couples with very severe oligozoospermia can lead to an increase in children who are at risk of unbalanced chromosomal complement, male infertility due to transmission of Y-chromosomal microdeletion , AR- CAG repeat and cystic fibrosis if both partners carry the CFTR gene mutation. Genetic testing and counseling before considering ICSI is suggested for these couples.

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