Today, with advances in assisted reproductive techniques, many infertile couples are able to have children. However, there is always risk of passing genetic abnormalities associated with infertility from parents to children. Therefore, detection of microdeletions of Y chromosome in patients with spermatogenesis failure seems very important. The purpose of this study was to determine the frequen...

BACKGROUND Patients with oligoasthenoteratozoospermia (OAT) and normal karyotypes have an increased sperm aneuploidy rate. This may be due to an altered intratesticular environment that affects the chromosomal segregation mechanism(s). Alternatively, it may be due to a generalized meiotic and mitotic abnormality. In this case, patients with abnormal spermatogenesis should also have an increased...

BACKGROUND While multiple factors can contribute to male infertility, genetic factors, such as chromosomal disorders or Y-chromosome microdeletion, are responsible for about 10% of male infertility. Considering the role of Y-chromosome micro-deletions in men with oligozoospermia who volunteer for in vitro fertilization (IVF), the prevalence of such microdeletions in each particular community ne...

INTRODUCTION We reviewed the most recent advances in the genetics of male infertility focusing on Y chromosome microdeletions. MATERIALS AND METHODS We searched the literature using the PubMed and skimmed articles published from January 1998 to October 2007. The keywords were the Y chromosome, microdeletions, male infertility, and azoospermia factor (AZF). The full texts of the relevant artic...

background: microdeletions of the azoospermia factor locus of the long arm of y chromosome are an etiological factor of severe oligozoospermia or azoospermia. objective: the aim of this study was to investigate the prevalence of y-chromosome microdeletions in azf region and their role in infertility in pakistani population. materials and methods: the type of deletions in azf locus were detected...

BACKGROUND Microdeletions of the Y chromosome are one of the most frequent genetic causes of spermatogenic failure in infertile men. But their role in gaining weight is unclear. The present study investigated the possible association of these partial microdeletions and obesity. METHODS In a case-control study, 180 males were selected. The prevalence of microdeletions was assessed using PCR in...

Constitutional chromosomal abnormalities are an important cause of miscarriage, infertility, congenital anomalies and mental retardation in humans. Pericentric inversions of the human Y-chromosome [inv(Y)] are rather common and show an estimated incidence of 0.6-1:1,000 in males in the general population. Most of the reported cases with inv(Y) are familial. For carriers of pericentric inversion...

Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C (AURKC) and DPY19L2 are now recommended for patients presenting macrozoospermia and globozoospermia, respectively, two rare forms of teratozoospermia particularly frequent among North African men. We carried out genetic analyses on Algerian pat...

The molecular diagnosis of Y-chromosomal microdeletions is a common routine genetic test which is part of the diagnostic workup of azoospermic and severe oligozoospermic men. Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have been actively involved in supporting the improvement of the quality of the diagnostic assays by publicatio...

About 30–40% of male infertility is due to unknown reasons. Genetic contributions to the disruption of spermatogenesis are suggested and amongst the genetic factors studied, Y chromosome microdeletions represent the most common one. Screening for microdeletions in AZFa, b and c region of Y chromosome showed a big variation among different studies. The purpose of this study was to investigate th...