Male infertility

Aberrant spermogram – complete absence of sperm-azoospermia; decreased sperm count-oligospermia; altered, pathological structure of spermatozoa-teratospermia; decreased sperm motility-asthenozoospermia.

The causes of the altered, pathological spermogram can be at different levels: at the level of the hypothalamus and pituitary gland, at the level of the testicles, at the level of the drainage channels. The genes responsible for the formation of functional sperm (FS) are found on both autosomal chromosomes and sex (X and Y) chromosomes. These can be general functional genes, and / or genes whose narrower specialty is a specific function in the process of spermatogenesis. Talking about their number is impossible, because there are a large number of genes. Thus, for example, according to the integrated human gene database from the GeneCards site for azospermia or associated with azospermia, there are 212 genes, oligospermia 16 genes, teratospermia 1 gene, asthenozoospermia 24 genes; and according to the NCBI (National Center for Biotechnology Information) for azospermia or related 122 genes, oligospermia 28 genes, teratospermia 0, asthenozoospermia 17 genes. However, according to some authors (Matzuk MM, Lamb DJ 2002), some 2300 genes are directly or indirectly involved in the process of spermatogenesis.

Normal sperm but infertility exist

This form of infertility is much more subtitle and harder to diagnose. This kind of infertility is usually caused due to excessive DNA and chromosomal damage. Diagnosis is thus much more difficult. The main function of sperm is to deliver the father’s genetic material to the mother’s egg, thus forming a zygote and a “program” for the future development of the embryo. However, if the genetic material of the father is not in order, depending on the type of error, different consequences can occur: rejection of the fetus in the early stage of development ( the mother does not register conception), removal of the fetus in the later stage of development (spontaneous abortion), various consequences (stillborn baby, baby with severe malformations). Given the overall biological circumstances, the “most probable and most common” situation when it comes to genetically caused sterility in man is that the fetus is rejected at the earliest stage of development. Because these “mistakes” originated from sperm, they are more effectively recognized by the mother’s immune system. In such cases, artificial insemination is often not effective and the only way is genetic counseling and a proper family/medical/genetic history examination in order to establish the error and develop a possible exit strategy for such a married couple. Otherwise, when it comes to defects in the genetic material of sperm, they can be of different character and etiology, from fine subtle mutations to large chromosomal abnormalities.

Therefore, in developed countries, the following approach in the treatment of sterility has recently been in circulation. Along with clinical trials of sterility, there is a genetic evaluation of the married couple and, if necessary, targeted genetic tests are performed. Not any genetic tests, but an appropriate tailored genetic test that solves the specific problem related to a certain married couple. The results are much more positive because of this approach. The true cause of infertility can be diagnosed. Thus, the treatment is much more successful. Symptomatic treatment of sterility is simply not approached. So if you are struggling with sterility, you are doing genetics along with clinical trials and analyzes. And the first thing is genetic counseling. To clarify everything and perform a complete evaluation of genetic status. And after that, if you get a valid explanation that is understandable to you, do a targeted genetic test. And you try to combine clinical analyzes and harmonize them with genetic results. If you succeed in this, the results will be much more successful.