Detection of the Most Common Genetic Causes of Male Infertility by Quantitative Fluorescent (QF)-PCR Analysis

Infertility is a major health problem today, affecting about 15% of couples trying to have a child. Impaired fertility of the male factor is causative in 20% of infertile couples and contributory in up to another 30-40%. Infertility already affects about 5-7% of the general male population and may further increase in the future, considering the apparent trend of declining sperm count in industrialized countries. Despite enormous progress in the understanding of human reproductive physiology, the underlying cause of male infertility remains undefined in about 50% of cases, which are referred to as idiopathic infertility (Ferlin et al., 2006). Most of the idiopathic cases are likely to be of genetic origin because the number of genes involved in human spermatogenesis is probably over thousands. At present, only few of the genes implicated in the processes of testis determination, testis descent and spermatogenesis have routine clinical importance. These include the cystic fibrosis transmembrane conductance regulator (CFTR) gene, whose mutations cause cystic fibrosis and absence of vas deferens and the androgen receptor (AR) gene, whose mutations cause the androgen insensitivity syndrome and spermatogenic damage.