Diagnosis

Male Infertility

Diagnosis of male infertility

To make a good diagnostic approach, a parallel evaluation of the fertility status of both partners, including the woman's ovarian reserve, should be performed, as this could determine the decision making in terms of timing and therapeutic strategies.

Clinical and reproductive history

Risk factors and toxic behavioral patterns and habits that may affect male fertility should be evaluated. These are lifestyle, family history of testicular cancer, comorbidity (including systemic diseases such as hypertension, diabetes, obesity, metabolic syndrome), genitourinary infections (including sexually transmitted diseases), history of testicular surgery and exclude any other potential toxicants to the gonads.

Typical findings in a patient with infertility include:

• Abnormalities of testicular descent: uni- or bilaterian cryptorchidism.
• Testicular torsion.
• Genitourinary infections.
• Exposure to environmental or occupational toxins.
• Medications or drugs that affect testicular function, such as anabolic agents or chemotherapy.
• Exposure to radiation or cytotoxic agents.

In addition to collecting personal history, important aspects such as the duration of subfertility or whether it is primary or secondary will be evaluated.

Physical examination

A focused physical examination will be performed, with special attention to:

• Testicular size and consistency.
• Exploration of vas deferens.
• Presence of varicocele (dilation of the veins that drain blood from the testicles).
• Presence of signs of hypogonadism
• Development of secondary sexual characteristics.

The size, texture and consistency of the testes should be taken into account. On a day-to-day basis, testicular volume can be measured using a Prader orchidometer, which however tends to overestimate the size when compared to ultrasound scanning.

Testicular volume varies according to several factors such as geographic area, racial and environmental factors, although the average testicular volume in healthy men is 20 ml, being somewhat less (18 ml) in infertile men.

We must also evaluate the vas deferens, the feel of the epididymides and the presence of varicocele. In the same way, the abnormality of the testicles, epididymides and vas deferens are explored. Other alterations to consider are the presence of phimosis, short frenulum, fibrotic nodules, epispadias and hypospadias.

Typical physical examination findings in men with testicular deficiency are abnormal development of secondary sexual characteristics, abnormal testicular volume or consistency, presence of testicular masses, absence of testes, presence of gynecomastia (increased breast tissue) and varicocele.

Semen analysis

A functional semen study (seminogram or spermiogram) will be requested. If the result is normal, it is not necessary to perform further studies on the male. If alterations are observed, it is necessary to obtain a second confirmatory semen analysis.

For its performance, all the semen from the ejaculate must be obtained after a period of abstinence of 3 to 5 days. It is important to collect the entire sample without losses, and deliver it to the laboratory that will perform its analysis no later than 1 hour after its collection.

The most frequently observed alterations are those related to sperm concentration, morphology and motility, and combinations of these may be observed. In case of complete absence of spermatozoa, it is called azoospermia, and it is not necessary to collect a second sample.

In cases of azoospermia and oligozoospermia (low sperm count in semen), a hormonal evaluation including serum total testosterone and follicle stimulating hormone (FSH) and luteinizing hormone (LH) should be performed.

On the other hand, depending on the seminogram findings, it may be necessary to study genetic factors that can establish the diagnosis (karyotype, Y chromosome microdeletions, cystic fibrosis gene). In any case, it is a test that is performed with a simple blood test.

La prueba de microdeleción del cromosoma Y se recomienda en hombres con concentraciones de esperma de < 5 millones de espermatozoides/mL, pero debería ser obligatorio en hombres con concentraciones de < 1 millón de espermatozoides/mL.

Finally, testicular Doppler ultrasound is a necessary test to evaluate morphological alterations of the testicles, their size and the presence of nodules and/or calcifications. Doppler allows us to appreciate the presence and, if necessary, the degree of a varicocele.

Semen analysis has three levels of depth:

Basic analysis:

Sperm count is performed as accurately as possible - even at very low sperm levels. Since the total number of sperm has greater prognostic value than the sperm concentration, it is necessary to accurately measure the volume of the ejaculate. Sperm motility is also determined by assigning them a grade from A to D (fast progressive, slow progressive, non-progressive, non-motile). The presence of fast progressive spermatozoa is a clinically very important factor.

Sperm shape determination (Tygerberg criteria) after Papanicolaou staining is also recommended.

2.- Extended analysis:

The determination of leukocytes and other markers of genital tract inflammation, antibodies, multiple sperm defect index determination, ejaculate sequence, aneuploidy detection, seminal biochemistry and DNA fragmentation are performed.

3.- Advanced analysis:

This is particularly necessary in men with couples with recurrent miscarriages and infertility of unknown cause. Some studies suggest that the DNA of these patients may be damaged, leading to the inability to fertilize and/or the presence of repeated miscarriages.