Evaluation of the male hormonal profile and genetic testing.
Hormonal and genetic testing in men is a fundamental part of infertility evaluation, particularly when there is an abnormal semen analysis or difficulty achieving pregnancy (especially in cases of azoospermia, severe oligospermia, recurrent miscarriages, IVF failures, or suspected genetic abnormalities). Hormonal evaluation assesses the function of the testes and the hypothalamic–pituitary–testicular axis. Genetic testing is recommended in cases of severe male infertility and includes karyotype analysis, screening for Y chromosome microdeletions (AZF region analysis), and testing for cystic fibrosis (CFTR gene mutations).
Evaluation of Sperm Function
Semen Analysis
Semen analysis is the cornerstone of male fertility evaluation. It is the primary diagnostic tool used to determine whether the male factor, in relation to the fertility status of the female partner, contributes to or causes the couple’s inability to conceive and, consequently, infertility. It is important to consider that semen analysis is an examination that presents two types of variability:
Α) "Exogenous Variability"This means that the same semen sample may, due to technical factors, be interpreted differently by different laboratories, resulting in different reported results.
Β) "Endogenous Variability": This means that the same man naturally presents variability over time in each of the main semen parameters (sperm count, motility, and morphology) over a period of weeks. The reference values used for comparison of results should correspond to those provided in the latest manual of the World Health Organization (WHO).
Sperm DNA Fragmentation Index (DFI)
xThis is a test that evaluates the integrity of sperm DNA strands. The genetic integrity of sperm is essential for normal embryo development. Sperm DNA damage may lead to failure of conception, miscarriages, congenital abnormalities, and genetic disorders, while high levels of sperm DNA fragmentation may represent a cause of male infertility.
Oxidative stress
Reactive oxygen species (ROS) are molecules containing activated oxygen that, at physiological levels, contribute to essential sperm functions, such as maturation and activation. However, increased levels of ROS can have the opposite effect, causing structural and functional damage to spermatozoa, including increased DNA fragmentation. This can impair sperm function and ultimately contribute to male infertility.
Sperm FISH Analysis
Sperm FISH (Fluorescence In Situ Hybridization) is a specialized genetic test that evaluates whether spermatozoa have the correct number of chromosomes. The analysis typically focuses on key chromosomes such as 13, 18, 21, X, and Y. The test is recommended in cases of recurrent miscarriages, repeated failures of in vitro fertilization (IVF), severe male infertility, increased sperm DNA fragmentation, or a history of genetic abnormalities.