Research Article

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In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected ... more

F.M. Carvalho; E.V. Wolfgramm; I. Degasperi; B.M. Verbeno; B.A. Vianna; F.F. Chagas; F. Paula; I.D. Louro; A.M.S. Perroni
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Azoospermia; Chromosomal abnormality; Male factor infertility; Oligozoospermia; Recurrent spontaneous abortion

Chromosomal abnormality is the most common genetic cause of male infertility, particularly in cases of azoospermia, oligozoospermia, and recurrent spontaneous abortion. Chromosomal rearrangement may interrupt an important gene or exert position effects. The functionality of genes at specific breakpoints, perhaps with a specific role in spermatogenesis, may be altered by such ... more

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Male infertility is mostly caused by spermatogenic failure. Currently, routine genetic analyses of unexplained azoospermia or oligozoospermia are limited to the investigation of Y chromosomal microdeletions and chromosome karyotype analyses. The aim of this study was to find spermatogenic failure genes in patients with chromosomal abnormalities and unexplained azoospermia caused by copy ... more

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AZF; Azoospermia; Male infertility; Microdeletion; Y chromosome

Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia factor (AZF) microdeletion of the Y chromosome and male infertility, we evaluated AZF microdeletion on the long arm of the Y chromosome in 166 infertile males and 50 fertile males using multiplex polymerase chain reactions amplification and gel electrophoresis. The ... more

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The estrogen receptor β (ERβ) gene plays an important role in the regulation of fertility in both males and females. The RsaI polymorphism in ERβis associated with male infertility in Caucasian patients. The aim of this study was to investigate the frequency of this polymorphism in the etiology of idiopathic male infertility and its ... more

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AZF microdeletions; Klinefelter syndrome; Male infertility

We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and ... more

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Published studies on the association between the C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene and male infertility risk are controversial. To obtain a more precise evaluation, we performed a meta-analysis based on published case-control studies. We conducted an electronic search of PubMed, EMBASE, the Cochrane Library, the Web of Science ... more

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Balanced translocation; Breakpoint; Chromosome 7; Genetic counseling; Male infertility

Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent ... more

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