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

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 1244
Author(s):  
Ponco Birowo ◽  
Isaac Ardianson Deswanto ◽  
Widi Atmoko ◽  
Nur Rasyid
Keyword(s):  
Systematic Review ◽  
Male Infertility ◽  
Y Chromosome ◽  
Population Variation ◽  
Genetic Causes ◽  
Y Chromosome Microdeletion ◽  
Y Chromosome Microdeletions ◽  
Number Of Patients ◽  
Different Types ◽  
Factor C

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.

scholarly journals Y-chromosome microdeletion and male infertility: a systematic review

10.3823/1788 ◽  
2015 ◽  
Author(s):  
Edgle Pedro de Souza Filho ◽  
Milton Ghirelli-Filho ◽  
Sally Lacerda-Pinheiro ◽  
Jucier Gonçalves Júnior ◽  
Ageu de Oliveira Saraiva ◽  
...  
Keyword(s):  
Systematic Review ◽  
Male Infertility ◽  
Y Chromosome ◽  
Y Chromosome Microdeletion

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

Andrologia ◽  
2017 ◽  
Vol 50 (3) ◽  
pp. e12938 ◽  
Author(s):  
E. P. de Sousa Filho ◽  
D. M. Christofolini ◽  
C. P. Barbosa ◽  
S. Glina ◽  
B. Bianco
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Y Chromosome Microdeletions

Y chromosome microdeletions and male infertility: who should be tested and why?

2006 ◽  
Vol 97 (3) ◽  
pp. 441-443 ◽  
Author(s):  
LUIS REYES-VALLEJO ◽  
STEPHEN LAZAROU ◽  
ABRAHAM MORGENTALER
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Y Chromosome Microdeletions

scholarly journals Novel Variants in HFM1 Lead to Male Infertility Due to Non-obstructive Azoospermia

2021 ◽  
Author(s):  
Dongdong Tang ◽  
Mingrong Lv ◽  
Yang Gao ◽  
Huiru Cheng ◽  
Kuokuo Li ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Testicular Biopsy ◽  
Severe Form ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Gene Variation ◽  
Y Chromosome Microdeletions ◽  
Whole Exome

Abstract Background Non-obstructive azoospermia (NOA) is the most severe form of male infertility. More than half of the NOA patients were idiopathic for their etiology, in whom it’s difficult to retrieve sperm despite the application of microsurgical testicular sperm extraction (microTESE). Therefore, we conducted to this study to identify the potential genetic factors responsible for NOA, and investigate the sperm retrieval rate of microTESE for the genetic defected NOA.Methods One NOA patient from a consanguineous family (F1-II-1) and fifty NOA patients from non-consanguineous families were included in the study. Semen analyses, chromosome karyotypes, screening of Y chromosome microdeletions, sex hormone testing, and subsequent testicular biopsy were performed to categorize NOA or obstructive azoospermia. Potentialgenetic variants were identified by whole exome sequencing (WES),and confirmed by Sanger sequencing in F1 II-1. The candidate genes were screened in the other fifty NOA patients. Further experiments including quantitative real time-polymerase chain reaction and western blotting were performed to verify the effects of gene variation on gene expression.Results Normal somatic karyotypes and Y chromosome microdeletions were examined in all patients. Hematoxylin and eosin staining (H&E) of the testicular tissues suggested meiotic arrest, and a novel homozygous HFM1 variant (c.3490C>T: p.Q1164X) was identified in F1 II-1. Furthermore, another homozygous HFM1 variant (c.3470G>A: p.C1157Y) was also verified in F2 II-1 from the fifty NOA patients. Significantly decreased expression levels of HFM1 mRNA and protein were observed in the testicular tissues of these two mutants compared with controls. MicroTESE was performed in these two patients, while no sperm were retrieved. Conclusions Our study identified two novel homozygous variants of HFM1 that are responsible for spermatogenic failure and NOA, even microTESE can not contribute to retrieve sperm in these patients.

scholarly journals Y CHROMOSOME MICRODELETION AND PHENOTYPE CORRELATES WITH MALE INFERTILITY IN GUJARATI POPULATION

2020 ◽  
Vol 05 (01) ◽  
pp. 19-21
Author(s):  
Parth S Shah ◽  
Nidhi P Shah ◽  
Sandip C Shah ◽  
Tapan Patel ◽  
Rutvik J Raval ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Y Chromosome Microdeletion
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