CONTEXT Many studies have investigated the association between male infertility and trinucleotide repeat polymorphisms in the androgen receptor (AR) gene, but no comprehensive meta-analysis of all published studies has been conducted. OBJECTIVE Our goals were to summarize published data on associations between AR CAG and GGC repeat lengths and male infertility and investigate sources of varia...

Background: Globally 10-15% couples suffer from infertility and in about 50% of these cases the problem is attributed to male partner. One of the major genetic cause of male factor infertility is point mutations in mtDNA. Methods: In the present study a systematic sequence analysis of 6 mitochondrial genes (NADH dehydrogenase 2, NADH dehydrogenase 3, NADH dehydrogenase 4L, NADH dehydrogenase 4,...

SUMMARY Luteinizing hormone (LH) is a pituitary heterodimeric glycoprotein essential in male and female reproduction. Its functional poly-morphic variant (V-LH) is determined by two missense mutations (rs1800447, A/G, Trp8Arg; rs34349826, A/G, Ile15Thr) in the LH b-subunit encoding gene (LHB; 19q13.3; 1111 bp; 3 exons). Among women, V-LH has been associated with higher circulating LH and reduce...

Male infertility represents one of the clearest examples of complex phenotype with substantial genetic basis. It is indeed well established that genetic causes account for 10-15% of infertility cases, including chromosomal abnormalities and single-gene mutations. However, a large proportion of infertile males does not receive a clear diagnosis and thus they are reported as idiopathic or unexpla...

Excessive amounts of reactive oxygen species (ROS) cause a state of oxidative stress, which result in sperm membrane lipid peroxidation, DNA damage and apoptosis, leading to decreased sperm viability and motility. Elevated levels of ROS are a major cause of idiopathic male factor infertility, which is an increasingly common problem today. Lycopene, the most potent singlet oxygen quencher of all...

Extraordinary advances have been achieved in the field of male infertility in the last decades. There are new concepts in sperm physiology and several modern tools for the assessment of spermatogenesis kinetics in vivo. New tests using molecular biology and DNA damage assays allow the clinician to correctly diagnose men so far classified as having idiopathic male infertility. In the field of tr...

The aryl hydrocarbon receptor (AHR) is a ligand-activated transcription factor that mediates the toxicity of a variety of environmental chemicals, such as polycyclic aromatic hydrocarbons (PAHs) and dioxins. We hypothesized that polymorphisms of AHR may result in significant differences in sensitivity to toxic effects of PAHs or dioxins and contribute to susceptibility to male infertility. To a...

OBJECTIVE The human methylenetetrahydrofolate reductase (MTHFR) gene plays a crucial role in folate metabolism. Data regarding the influence of MTHFR gene polymorphisms on male fertility status are scarce and conflicting. We determined associations between 3 MTHFR gene polymorphisms (C677T, A1298C, and G1793A), serum folate, and total homocysteine (tHcy) levels, with male fertility status and s...