Santiago Brugo Olmedo M.D.
Medical Director
Seremas Medicine for men and women
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Testicular Biopsy

Azoospermia
Absence of spermatozoa in semen is known as azoospermia.

There are 2 different kinds of azoospermia: non-obstructive and obstructive.

Non-obstructive azoospermia is the one that prevents the patient from producing spermatozoa, or in other words, there is a problem in the production.

Obstructive azoospermia, on the other hand, is the one that suffers a patient with no difficulty in production but whose spermatozoa are blocked on their way out, or do not have the ducts which link testis and penis, this means, vas deferens.

Non-obstructive azoospermia

CIRUGIA | Biopsia Testicular

Testicular biopsy technique to retrieve spermatozoa

These patients are those who have or had a disease in their testis and can not produce spermatozoa.

This type of azoospermia may have been caused by acquired problems, such as important testicular trauma during childhood or later on, or diseases such as cryptorchidism (we have already mentioned before). Sometimes, although it is not common, it can be caused by varicocele or, more frequently, by testicular swelling as a result of mumps (mumps orchitis) which can leave the testis totally damaged and unable to produce spermatozoa.

Treatments with drugs to treat cancer (cytostatics) usually give as a result an undesirable non-obstructive azoospermia as well. It is surprising that although the disease is apparently produced in only one testicle (for example a unilateral cryptorchidism or orchitis in one testicle); in general it affects both gonads (testis).

Another disease is hypogonadotrophic hypogonadism, or lack of hormones. This disease which, as we have said before, is not very frequent in consultation with the andrologist, also causes azoospermia because testis do not have the stimulus they need in order to produce spermatozoa. In some cases, these patients can have physical development with certain feminine features. Habitually, they have less development of body hair.

How are these cases solved?

In order to solve these cases it is recommendable to administer hormones the patient needs so that their testis produce spermatozoa again.

Depending on the quantity they produce, different methods will be used to achieve pregnancy. They might be natural, for those patients who can produce a normal quantity, or with the help of assisted reproduction for those who can not produce enough spermatozoa quantity or quality.

It is important to take into consideration that there are men who suffer from azoospermia as a result of working hazards, like the case of those who work in contact with high temperatures, such as bakers and those working in metallurgical industrial furnaces. Those who work in radiology (whether they are radiologists, doctors or dentists) and do not take necessary safety measures can have serious fertility problems.

However, a man can also suffer from azoospermia as consequence of genetic diseases. The most frequent one is Klinefelter syndrome, disease which implies the existence of more than one X chromosome.

That patient’s genetic constitution is 47, XXY instead of 46, XY. Statistics show that 0, 2% of general population has this Syndrome, but among patients consulting for sterility and have azoospermia, incidence increases to 10-20%.

Diagnosis is not done before puberty, in other words between 12-14 years old; at that moment it is noticeable that testis are small and have firm consistency, like olives.

It is relevant to make clear that in the case of all the rest of diseases which produce testicular atrophy, consistency is diminished, they are soft. Many times, androgenic development is abnormal, this means, accumulation of body mass follows a feminoid distribution, with hips which are wider than shoulders and sometimes these patients have gynecomasty (mammary glands more developed than habitual in men).

A hormonal analysis is required and it will be noticeable, in all cases, that FSH and LH hormones are above normal values and instead, testosterone is below the normal ones. We can see azoospermia in the spermogram; this means the total lack of spermatozoa. With no doubts, the most important analysis is the karyotype in blood, in other words, the genetic test which confirms the diagnosis.

Klinefelter syndrome can not be cured, but instead, more than half of the patients can have children. A testis biopsy must be carried out in order to try to find some few spermatozoa and freeze them in -196 degrees liquid nitrogen. Once this is done, and some time after it, we start induction of the woman’s ovulation in order to perform In Vitro fertilization with ICSI.

Apart from this one, there are other genetic diseases which can result in sterility for the man, not necessarily producing azoospermia but also oligozoospermia (decrease in number of spermatozoa in the ejaculate) and therefore, can not avoid pregnancy, but they can cause the birth of children with serious problems or deformities.

For this reason, it is very important to carry out a genetic test in all those cases of non- obstructive azoospermia and also in those of severe oligozoospermia, especially if the patient has no medical antecedents that justify his low spermogram.

Another group of patients who show azoospermia or very severe oligozoospermia may also have some other type of diseases called Y chromosome microdeletions.

Several years ago, in the ‘70s, a group of Italian researchers found out that when Y chromosome lacks of a small part, it causes the absence or at least failure in the process of spermatozoa production.

Years later, due to the discovery of human genome, in 1992, the first research works were published, and they showed, with the most sophisticated technology, that the lack of really tiny pieces (deletions) of Y chromosome could be responsible for the total lack of spermatozoa in a man. Later, it was proved that there were three areas which could be absent in those men: the area of what was called AZFa; AZFb and AZFc.

Any loss or deletion of one of these regions of Y chromosome will cause azoospermia or severe oligozoospermia.

Can patients with Y chromosome microdeletions have children?

Yes, they can. We will have to use a testicular biopsy and in more than half of the cases we will find spermatozoa, which we will be able to freeze and later use in ICSI.

Is this disease transmitted to their children?

Yes, it is. 100% of this patient’s male children will have the same problem of Y chromosome microdeletion, and therefore, the same seminal condition.

Do born children have any other risk?

Up to what is known nowadays, they have no other risk for their health. Every patient who suffers from non-obstructive azoospermia, who has not been previously treated with cytostatics or radiation, must be genetically tested through a karyotype in blood in order to know chromosomic failures and also with PCR technique to discard a Y chromosome microdeletion.

 

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