Genetic Causes Of Infertility

During the last few years, there is a rapidly expansion of new diagnostic techniques improving the detection of genetic causes of infertility. It is followed by a precise risk assessment of genetic change transmission and possibility to chose the most adequate methode of medically assisted reproduction. The treatment of severe forms of both male and female infertility became possible by the development of very sofisticated in vitro fertilising techniques. Such patients carry the significantly higher risk of having mutational change in one of the disease genes involved in regulation of human reproduction. The detection of mutation in these patients improve the treatment and prognostic assessment in potential future pregnancies. The unique guidelines for the diagnosis and the treatment of infertile couples still doesn't exist. There are several categories of patients selected by clinical features and associated with some forms of genetic abnormalities. For particular genetic disorders such as cystic fibrosis and fragile X syndrome, their role in pathogenesis of infertility is very well known. Every day, new genetic mutations associated with infertility are discovered. The recent studies involving investigations of significance of molecular mutations, particulary in the gene for the β-subunit of FSH and LH , showed thier diagnostic and clinical value in evaluation both male and female infertility.