One of the factors causing azoospermia is genetic problems. The most well-known congenital genetic problems are karyotype errors and deletions in the y chromosome.
However, although they are common in our country, there are two other important diseases that we face resistance when we request a genetic laboratory to perform an examination.
One of these diseases, which we have not yet been able to solve at the level of some genetic specialists or laboratory staff, is familial Mediterranean fever disease, also known as FMF, and the other is Cystic Fibrosis disease.
Both FMF and Cystic Fibrosis do not cause azoospermia by directly affecting intra-testicular production. Because the problem is not related to the relationship between pituitary and testicular axis. The cause of azoospermia is indirect. Due to mechanical obstruction in the post-testicular conduction pathways, regression and eventually azoospermia occur over time.
In familial FMF cases related to this subject, we often witness that some of them have normospermia, some have oligospermia, some have severe OAT syndrome, and some have various infertility problems up to severe azoospermia in the same family.
However, in order to make such a diagnosis, it is observed that the physician’s knowledge of the possibility of this disease as a cause of azoospermia is not at the desired level. In female cases, the level of awareness that an infertility that develops due to a condition caused by peritonitis, which initially causes external compression, is also manifested by a decrease in egg reserve due to an internal tubal obstruction, is not yet fully understood in the causality of infertility at the male level.
Another interesting point is that pituitary-derived genetic problems are found more frequently in FMF cases themselves and sometimes in other family members than in other members of the society.
In addition, although Cystic Fibrosis disease, which is a genetic problem, is a well known genetic disease, it is a little known disease factor by those who work in other medical fields other than urology in the examination of the causes of azoospermia.
In the same way, another interesting aspect of Cystic Fibrosis, which occurs with azoospermia or oligospermia that develops over time with mechanical obstruction (obstruction), is that it can occur with the congenital absence of the congenital conduction channel called congenital vasa. In these cases, some clinicians have increased the awareness of this issue by making it routine to examine the presence of these channels while examining the CTFR gene.
There are two points we emphasise here.
Firstly, detailed spermiogram follow-up may sometimes be insufficient in such cases. Therefore, we have to scan the anterior and posterior system with Doppler and USG. For example; if the right side belongs to an atrophic testicle and the vasa is open, if the left side belongs to a normal testicle and the vasa is blocked or congenitally absent, neither detailed semen analysis nor FISH test will give you an indication in such a case.
Secondly, if the hormone profile obtained in such cases is normal, we would like to remind you that although TESE is performed with the hope of finding obstructive azoospermia and sperm easily, the reason for the failure to obtain sperm is due to the regression of the system over time, we would like to remind you that TESE should not be performed in a hurry and we should act according to our hormonal follow-up criteria.
In this regard, we have had successful examples of cases that were thought to be unresponsive. If you wish, you can read our hormonal follow-up criteria in our seminar notes.
