Azoospermia is a high risk factor for testicular germ cell tumors, whose underlying molecular mechanisms remain unknown. In a genome-wide association study to identify novel loci associated with human non-obstructive azoospermia (NOA), we uncovered a single nucleotide polymorphism (rs1887102, P=2.60 ×10-7) in a human gene FOXN3. FOXN3 is an evolutionarily conserved gene. We used Drosophila mela...

Approximately 15% of couples in the reproductive age group worldwide are affected by infertility, and it is estimated that about 40-50% of infertilities are of male origin. Genetic factor accounts for 10-15% of severe male infertility, including chromosomal aberrations and single gene mutations (Ferlin et al, 2006). After the Klinfelter syndrome, Y chromosomal microdeletions are the most freque...

DAZ (Deleted in Azoospermia), the putative azoospermia factor gene in human, encodes a ribonucleoprotein-type RNA-binding protein required for spermatogenesis. A Drosophila homologue of DAZ, called boule, is also essential for spermatogenesis. A mouse homologue, Dazla, is implicated in both spermatogenesis and oogenesis. Here, we report the identification and characterization of daz-1, the sing...

BACKGROUND Tumor necrosis factor-alpha (TNF-α) is a multifunctional cytokine that regulates different cellular activities related to spermatogenesis. Tumor necrosis factor-alpha receptor 1 (TNFR1) mediates TNF-α activity and polymorphism in TNFR1 could lead to gene dysfunction and male infertility. OBJECTIVE The aim of this study is to determine the association of TNFR1 36 A/G polymorphism wi...

Background: Male infertility is a common problem and needs a minimally invasive method to arrive at the appropriate diagnosis. Alternative to open testicular biopsy the fine needle aspiration cytology of the testis is being increasingly used as a minimally invasive method of evaluating testicular function. Aim of the study: To assess the diagnostic accuracy of fine needle aspiration cytology in...

Background: In recent decades infertility has become a burdensome problem with its profound psychological, economic, demographic and medical complications. an infertile couple male factor plays as much important role that of female factor. Life style factors like addiction to tobacco, alcohol drugs do have effect on fertility. The purpose this study was assess the tobacco in partners couples te...

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 detecte...

Background Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm. Objective The aim of this cross-sectional study was to de...

BACKGROUND Thrombophilia-related mutations, such as coagulation factor V Leiden and factor II (G20210A), have been associated with female infertility due to spontaneous abortions during pregnancy. The possible role of mutations of these two factors in male infertility has not been studied to date. MATERIALS AND METHODS A total of 208 unrelated Greek men were investigated, including 108 infert...