Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population

Andrologia ◽  
2021 ◽  
Author(s):  
Nemanja Vučić ◽  
Nevena Kotarac ◽  
Suzana Matijašević ◽  
Lana Radenković ◽  
Ivan Vuković ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Idiopathic Male Infertility ◽  
Azf Region

scholarly journals The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility

Genes ◽  
2019 ◽  
Vol 11 (1) ◽  
pp. 40 ◽  
Author(s):  
Fabrizio Signore ◽  
Caterina Gulìa ◽  
Raffaella Votino ◽  
Vincenzo De Leo ◽  
Simona Zaami ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Copy Number ◽  
Significant Proportion ◽  
Copy Number Variations ◽  
World Health ◽  
Idiopathic Male Infertility ◽  
Negative Results ◽  
Pubmed Database ◽  
Structural Anomalies

The World Health Organization (WHO) defines infertility as the inability of a sexually active, non-contracepting couple to achieve spontaneous pregnancy within one year. Statistics show that the two sexes are equally at risk. Several causes may be responsible for male infertility; however, in 30–40% of cases a diagnosis of idiopathic male infertility is made in men with normal urogenital anatomy, no history of familial fertility-related diseases and a normal panel of values as for endocrine, genetic and biochemical markers. Idiopathic male infertility may be the result of gene/environment interactions, genetic and epigenetic abnormalities. Numerical and structural anomalies of the Y chromosome represent a minor yet significant proportion and are the topic discussed in this review. We searched the PubMed database and major search engines for reports about Y-linked male infertility. We present cases of Y-linked male infertility in terms of (i) anomalies of the Y chromosome structure/number; (ii) Y chromosome misbehavior in a normal genetic background; (iii) Y chromosome copy number variations (CNVs). We discuss possible explanations of male infertility caused by mutations, lower or higher number of copies of otherwise wild type, Y-linked sequences. Despite Y chromosome structural anomalies are not a major cause of male infertility, in case of negative results and of normal DNA sequencing of the ascertained genes causing infertility and mapping on this chromosome, we recommend an analysis of the karyotype integrity in all cases of idiopathic fertility impairment, with an emphasis on the structure and number of this chromosome.

A novel copy number variation in CATSPER2 causes idiopathic male infertility with normal semen parameters

2019 ◽  
Vol 34 (3) ◽  
pp. 414-423 ◽  
Author(s):  
Tao Luo ◽  
Hou-yang Chen ◽  
Qian-xing Zou ◽  
Tao Wang ◽  
Yi-min Cheng ◽  
...  
Keyword(s):  
Male Infertility ◽  
Copy Number Variation ◽  
Copy Number ◽  
Semen Parameters ◽  
Idiopathic Male Infertility ◽  
Number Variation

scholarly journals The role of modern technologies in the management of azoospermia using microdissection TESE in the framework of the ECF-ICSI program. A literature review. Part I.

2012 ◽  
Vol 58 (5) ◽  
pp. 66-74
Author(s):  
I I Vitiazeva ◽  
S V Bogoliubov ◽  
I I Dedov
Keyword(s):  
Prognostic Factors ◽  
Literature Review ◽  
Male Infertility ◽  
Y Chromosome ◽  
Modern Methods ◽  
Modern Classification ◽  
Modern Technologies ◽  
Azf Region

The present review is focused on the modern methods for the treatment of male infertility related to obstructive and unobstructive azoospermia. The criteria and prognostic factors for obtaining spermatozoa by means of invasive manipulations on the testicles are considered. Special attention is given to the results of investigations into the state of the AZF-region of Y-chromosome and of the studies of patients presenting with Klinefelter's syndrome. The modern classification of testicular biopsies is presented that allows to discriminate between different forms of compromised spermatogenesis.

Copy number variation associated with meiotic arrest in idiopathic male infertility

2015 ◽  
Vol 103 (1) ◽  
pp. 214-219 ◽  
Author(s):  
Stefanie Eggers ◽  
Kathleen D. DeBoer ◽  
Jocelyn van den Bergen ◽  
Lavinia Gordon ◽  
Stefan J. White ◽  
...  
Keyword(s):  
Male Infertility ◽  
Copy Number Variation ◽  
Copy Number ◽  
Meiotic Arrest ◽  
Idiopathic Male Infertility ◽  
Number Variation

scholarly journals Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups

PLoS ONE ◽  
2015 ◽  
Vol 10 (8) ◽  
pp. e0137223 ◽  
Author(s):  
Martin M. Johansson ◽  
Anneleen Van Geystelen ◽  
Maarten H. D. Larmuseau ◽  
Srdjan Djurovic ◽  
Ole A. Andreassen ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Microarray Analysis ◽  
Copy Number ◽  
Copy Number Variants ◽  
Human Y Chromosome

scholarly journals Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility

2012 ◽  
Vol 3 (3) ◽  
pp. 69-77 ◽  
Author(s):  
Alaaeldin Gamal Fayez ◽  
Amr Saad El-Sayed ◽  
Mohamed Ali El-Desouky ◽  
Waheba Ahmed Zarouk ◽  
Alaa Khalil Kamel ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Copy Number ◽  
Genetic Factors ◽  
Gene Dosage ◽  
Copy Number Variations ◽  
Infertile Men ◽  
Egyptian Patients ◽  
Daz Gene

ABSTRACT Men with severe infertility suffer a high risk of Y chromosome deletion, hence screening for these cases is recommended prior to treatment with assisted reproduction. Our study aimed to investigate and detect the azoospermia factor (AZF) region deletion, rearrangement and deleted azoospermia (DAZ) gene copy number variations in Egyptian azoospermic infertile men. This was tested on 54 Egyptian nonobstructive azoospermic (NOA) infertile men, with age ranged from 21 to 45 years (mean: 31.4 ± 6.1 years), by STS ± multiplex PCR using a set of 14 sequence tagged sites (STSs) from three different regions of the Y chromosome: AZFa, AZFb, AZFc and sY587/DraI PCRRFLP assay to determine DAZ copy number variations. The results revealed a significant prevalence of AZFc subtypes deletion and reduced DAZ gene dosage in Egyptian azoospermic cases affecting Y chromosome deletions. To our knowledge, this study is the first one to investigate AZFc subtypes deletion and DAZ gene dosage in Egyptian infertile men. We concluded that DAZ genes deletion is a risk factor for spermatogenic damage. How to cite this article Fayez AG, El-Sayed AS, El-Desouky MA, Zarouk WA, Kamel AK, Fahmi IM, El-Ruby MO. Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility. Int J Infertility Fetal Med 2012;3(3):69-77.

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