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Wish to have children

Ερώτηση
Dear team,
my partner and I, we want to have a child. Until now, it did not work and now an azoospermia came out in my partner. The urologist said, we could have a genetic investigation done, if he wanted. My husband (31) has no symptoms. He hasn't any problems with digestion, nor with the lungs or breathing. In the contrary. He is very sportive. I read about the genetic defect that could cause CF. If he has this, would he then be only carrier as he did not have any symptoms in his life and is not ill? Or could the illness still break out after 31 years? I am afraid. Is a genetic testing necessary? I am more afraid because of him then because of the not-fullfilled wish to have children.
Απάντηση
Dear questioner,
You want to know, if the diagnosed azoospermia of your partner could be caused by CF. You report, that your partner is otherwise healthy. I understand that you are afraid, therefore it is for sure right to clarify the situation and to decide afterwards, if your wish to have children, can be fullfilled if not not possible the natural way probably by in-vitro fertilization after gaining sperm cells via a puncture the testicles (MESA = microsurgical epididymal sperm aspiration) or a biopsy of the testicles (TESE = testicular sperm extraction).
An azoospermia can be caused by genetic defects or can be acquired. This can have different reasons.
It can be caused by a genetic defect of the Y-arm in the so-called azoospermia-factor gene. It can also be caused by a combination of mutations in the CFTR-gene, then it could deal with the illness of CF or a mild variant of it called CBAVD (congential bilateral aplasia of the vas deferens). CBAVD is a common cause of male infertility. Hereby it deals with an illness that influences only the azoospermia, otherwise the patient is healthy! The genetic cause can only be diagnosed by genetic testing, therefore this test makes sense in this case.
For understanding it can be said, that a genetic illness can not be acquired in the course of life. The person has it from birth on, but the symptoms can occur in the course of life.
Besides a genetic reason, other reasons can cause an azoospermia. For example the obstruktive azoospermia: obstruction between epididymis and seminal gland; or the non-obstructive azoospermia: sperms are not produced. This can have many different reasons again.
Your partner should get advice at an urologist and have the necessary diagnostics done as soon as possible in order to clarify the situation. This would calm down your life again.
Best regards,
Dr. Christina Smaczny
20.07.2018