Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross-sectional study

Filho, Edglê Pedro de Sousa; Christofolini, Denise Maria; Barbosa, Caio Parente; Glina, Sidney; Bianco, Bianca

doi:10.1111/and.12938

Cited by 7 publications

(3 citation statements)

References 27 publications

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“…AZFa,b,c are known to play crucial role in NOA cases (Ambulkar et al, 2014;Saxena et al, 2019). The deletion frequency AZF regions varying in azoospermic cases due to different genetic factors are known to play crucial role during spermatogenesis (de Sousa Filho et al, 2018;Goncalves et al, 2017). Although, there is no correlation exist between genotypic-phenotypic variation and deletion frequency of AZF regions varying in azoospermic cases (Saxena et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

Research Article Microdeletion of the AZFc locus with high frequency of mosaicism 46,XY/47XYY in cases of non obstructive azoospermia in eastern population of India

Saxena¹,

Aniket²

2019

Genet. Mol. Res.

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The etiopathology of male infertility is highly complex, involving gene-environment interactions to regulate spermatogenesis. Consequently, genetic analysis becomes imperative for cases of non-obstructive azoospermia (NOA) to identify the causative factors. Cases (n = 111) of NOA referred to the cytogenetics and molecular genetics laboratory of the All India Institute of Medical Sciences in-Patna from 2013-2018 were subjected to 1) karyotyping using GTG bandings techniques, 2) fluorescence in situ hybridization (FISH) for the sex determining region (SRY), and 3) PCR based analysis of STS markers based on microdeletion of the Y-chromosome after isolation of genomic DNA from whole blood. A flow cytometer was used for a cell-kinetic and DNA methylation study after incorporation of 5-azacytidine (5-AzaC) (1.0 ug/mL) in lymphocyte culture. PCR products were analyzed on an agarose gel (1.5%) and bands were visualized on Gel Doc after ethidium bromide staining. Chromosomal abnormalities, including structural numerical variations, were observed in 14 of the karyotypes. Eight cases showed a 46,XY/47,XYY i.e. mosaic pattern; two cases 46, XY/45/XO; a single case with 47,XY +16; two cases with 46,X+ ring Y; a single case with 46,XY+dicentric in ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 18 (2): gmr18349 A.K. Saxena 2 chromosome-7; and two cases showed a normal 46,XY karyotypic pattern. Cellular proliferation increased after incorporation of 5-azaC (1.0 µg/mL) for 24 h in lymphocyte culture at the S-phase of the cell cycle. Out of 14 cases analyzed with FISH, three cases showed loss of the SRY region, amongst which two cases were SRY negative (ve) with a normal 46, XY karyotype. Serum follicle stimulating hormone values were higher (21 U/L) in cases of mosaicism as compared to normal individuals. The frequency of microdeletion deletion of the AZFc region varied in different cases; one case of infertility showing deletion of the Sy 267 STS marker (102bp); loss of a 350bp band (Sy 254) was found in all the cases of infertility. These genetic variations are responsible for dysregulation of spermatogenesis leading to infertility in males. Genetic counselling would be relevant in such cases, before beginning assisted reproductive techniques such as in vitro fertilization.

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Section: Discussionmentioning

confidence: 99%

Research Article Microdeletion of the AZFc locus with high frequency of mosaicism 46,XY/47XYY in cases of non obstructive azoospermia in eastern population of India

Saxena¹,

Aniket²

2019

Genet. Mol. Res.

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“…Chromosomal anomalies whether numerical or structural was placed as the first of these factors as in the case of Klinefelter syndrome [ 3 ]. Y-chromosome microdeletions with a frequency of 1% to 50% are considered the second most frequent genetic causes that result in azoospermia and are directly associated with male infertility [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2021

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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.

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“…4 This finding that AZFc Y-chromosome microdeletions are the most commonly diagnosed Y-chromosome microdeletions with incidence ranging from 46.6% to 100% was concurrent with the findings of other studies conducted in Brazil, China, India, Iran, and Korea. [11][12][13][22][23][24] However, one study conducted by Birowo et al in Indonesia reported AZFa Y-chromosome microdeletions (64.7%), instead of AZFc Y-chromosome microdeletions, to be the most frequent type of deletion. The high prevalence of partial AZFa microdeletion (absent sY84, present sY86) could be attributed to the larger proportion of azoospermic patients recruited in this study (only 2 out of 17 patients presented with severe oligozoospermia).…”

Section: Epidemiological Aspects Of Y-chromosome Microdeletionmentioning

confidence: 99%

Population variation in Y-chromosome microdeletion and its role in the evaluation of male infertility management: a systematic review

et al. 2021

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Background: Infertility has been a significantly growing problem worldwide, affecting approximately 10-15% of couples within reproductive age. Among the many causes of male infertility, Y-chromosome microdeletion is considered one of the most frequent genetic causes. Thus, this systematic review was constructed to determine the prevalence of Y-chromosome microdeletion and the population variations in the different types of Y-chromosome microdeletions. Methods: We searched the PubMed, Scielo, and Science Direct databases to obtain articles that addressed the frequency of Y-chromosome microdeletion and male infertility. We identified 14 articles that originated from China, India, Iran, Brazil, Indonesia, North America, South Korea, and Slovakia, and the vital information collected included the year of publication, authors, number of patients with different types of Y-chromosome microdeletions, and the proportion of microdeletion in the major affected sub-regions of the Y-chromosome. Results: In this review, we attempted to highlight the variation in the frequency of Y-chromosome microdeletion in different geographical populations. The highest and lowest frequencies of Y-chromosome microdeletion were found in Indonesian (23.94%) and Slovakian (3.5%) populations, respectively. Conclusion: In conclusion, Y-chromosome microdeletion was undeniably found to be one of the leading genetic causes of male infertility. Azoospermic factor c (AZFc) microdeletion was the most frequent type of Y-chromosome microdeletion, typically presenting in patients with various clinical manifestations that ranged from oligozoospermia to azoospermia and exhibiting the highest chance for sperm retrieval. This review will undoubtedly help clinicians in providing a more accurate consultation to their patients and determining the success rates of assisted reproductive technology.

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Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross-sectional study

Cited by 7 publications

References 27 publications

Research Article Microdeletion of the AZFc locus with high frequency of mosaicism 46,XY/47XYY in cases of non obstructive azoospermia in eastern population of India

Research Article Microdeletion of the AZFc locus with high frequency of mosaicism 46,XY/47XYY in cases of non obstructive azoospermia in eastern population of India

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

Population variation in Y-chromosome microdeletion and its role in the evaluation of male infertility management: a systematic review

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