Recommendations on the diagnosis of male infertility — genetic testing


Katarzyna Jankowska, Anna Kutkowska-Kaźmierczak, Wojciech Zgliczyński, Andrzej Kochański, Jolanta Słowikowska-Hilczer

Male infertility is the cause of couples’ infertility in about 50% of cases. Current recommendations on the diagnosis and treatment of male infertility advance thorough medical history taking and physical examination, to provide the basis for further genetic evaluation. The extent of genetic testing itself depends on the semen analysis results, which allow the risk of inheritance of chromosomal aberrations to be determined and the root causes of habitual miscarriages to be explained. In azoospermia, once the type of microdeletion has been identified, a decision can be made as to whether a testicular biopsy is required to obtain sperm for the artificial reproductive technology (ART) procedure. The physical examination, genetic interview, and hormonal results are helpful in deciding which genetic tests to perform. Our research facilitates genetic testing in the diagnosis of male infertility.

Full publication in Endokrynologia Polska »