Medical history

Initially, a complete history of the man should be taken; it should contain the known medical history and any findings of the physical examination.

Semen analysis (spermogram)

Semen analysis remains perhaps the most valuable tool for male infertility assessment. At least two samples must be tested by the laboratory to avoid misdiagnosis. The sample should be produced and checked according to the World Health Organization (WHO) criteria, in order to ensure comparability between different laboratories. More specifically, the duration of sexual abstinence before the test should be 2-3 days; if the sample is produced outside the laboratory, it should be brought in within one hour. During transportation, the sample should be kept in a pocket, close to the body (to avoid excessive cooling or heating). Normal semen parameter values, according to the WHO (WHO manual, 5th Edn., 2010) are:

Liquefaction time: 30-60 min

Semen volume: ≥1.5 ml

pH: 7.2

Sperm cell count: ≥15,000,000/ml

Total sperm cell count: ≥39,000,000

Sperm morphology (normal forms): >14%

Anrisperm antibodies: ≤50%

Round cell count: <5,000,000

 

Semen culture

A culture of the seminal fluid is usually done during the investigation of infertility, in order to detect the presence of germs that may have infected the genital tract. The culture may be recommended after a semen analysis, in which a large number of cells indicative of infection may have been observed.

Semen culture is different from semen analysis. The man may produce a semen sample regardless of the duration of abstinence, and must also comply with specific instructions for collecting the sample. Specifically, the man needs to urinate first, then wash his genialia thoroughly and wipe with a clean towel. The sample may then be collected into a sterile container. Then, the sample should be brought to the laboratory within 3 hours.

Semen culture is a valuable test; it helps detect and treat several urogenital infections.

Imaging the genital tract

Several pathological conditions, more or less serious, affect the scrotum. Scrotum ultrasound and triplex scan are first-line tests for all such conditions. These tests are painless, fast, and reliable; they directly provide the clinician with all the information necessary to diagnose correctly most scrotum-related problems. Scrotal ultrasound allows to control the position, size and morphology of the testes and epididymides; the triplex scan allows to check the blood flow in the vessels of the region, in order to diagnose various medical conditions. Ultrasound and triplex scans can provide directly, easily, and promptly, all the necessary information about the anatomy and pathology of the scrotum. 

Hormonal profile

During the infertility investigation of a man, it is essential to measure the blood levels of certain hormones; these may directly or indirectly affect sperm production. The main hormones to measure are:Testosterone, FSH (follicle-stimulating hormone), LH (luteinizing ormone), PRL (prolactin), TSH (thyroid-stimulating hormone), E2 (estradiol) and cortisol.

 Investigating the male hormonal profile is important when examining why a man presents with a reduced sperm count, without any other apparent reason, such as varicocele, testicular cancer, ejaculatory duct obstruction etc..

Virological testing

Before any assisted reproduction technique is applied, the law requires that both partners be tested for important viruses. THe tests required are:  ΗΙV I & II (human immunodeficiency viruses), HBsAg (hepatitis B surface antigen), HCV (hepatitis C virus), VDRL (syphilis).

DNA Fragmentation

Scientific research suggests that spermatozoa with a high percentage of DNA fragmentation are less likely to yield a healthy pregnancy. A statistical analysis of hundreds of semen samples showed that men with sperm DNA fragmentation rate of more than 30% have a significantly lower fertility potential (fewer pregnancies, double miscarriage rate). DNA fragmentation is due to endogenous and exogenous factors. The major exogenous DNA fragmentation factor is oxidative stress. The use of antioxidants may help.

Genetic testing

Karyotype

Men with azoospermia or oligozoospermia need to be karyotyped, in order to check for possible chromosomal abnormalities, such as Kleinefelter syndrome (46XXY).

Checking for specific diseases which are due to gene mutations

Testing of gene mutations is performed by a specialized genetics laboratory; the results contribute to determining the probability for an individual to develop or transmit a genetic disorder.

Some common genetic disorders are: thalssemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington disease, congenital hypercholesterolemia etc.. The first two have a higher prevalence in Greece.