What is azoospermia and how are the obstructive and non-obstructive types told apart? Overview of causes, assessment, genetic tests and treatment options.
Azoospermia is the situation in which no sperm can be found in the ejaculate, that is, in the fluid released during ejaculation. This result can cause great anxiety; but azoospermia is not a single disease, it is the common outcome of very different causes. The options vary with the type, the cause and your situation. The information below offers a general framework; it does not replace a diagnosis or treatment recommendation specific to you.
What is azoospermia?
Sperm is produced in the testes and carried from there to the outside through channels called the sperm pathways. If there is a problem at any link of this chain, sperm may not be seen in the ejaculate. The diagnosis rests on a semen analysis done in the laboratory and is not settled with a single sample: if the first analysis is abnormal, it is confirmed with consecutive analyses.
No sperm being found in the ejaculate is not the same as there being no sperm production at all in the testis; this difference is the real point that determines the type and the options.
Into what types is azoospermia divided?
Azoospermia is divided into two main groups. The distinction rests on whether the problem lies in the transport of sperm or in its production.
What does azoospermia due to blockage mean?
In this type sperm is produced in the testes but cannot reach the ejaculate because of an obstruction on the way. The obstruction may be at different points of the sperm pathways: a blockage in the channel that carries the sperm or at its junctions, a narrowing that forms after an infection you have had or after surgery, or the congenital absence of a channel altogether. In this group the problem lies not in production but in transport; for this reason options such as repair or sperm retrieval come to the fore.
What does azoospermia due to a production problem mean?
In this type the problem is that the testes cannot produce enough sperm. Production may be completely absent or at a very limited level. The causes include congenital or genetic conditions, hormonal disorders, previous testicular damage and cancer treatments. In this type the picture is more complex and the options are determined according to the cause.
What can be the causes of azoospermia?
The causes cover a wide range. The main groups are a history of infection or surgery that causes a blockage, congenital structural differences, conditions that disturb hormone balance, genetic changes, testicular damage and cancer treatments that affect sperm production. In some men no cause may be found despite a detailed assessment. Not finding a cause does not mean that the problem is unimportant or that there is no solution.
How is the assessment done?
Guidelines on this subject recommend, in azoospermia, a holistic assessment covering the history and examination, the hormone profile, scrotal ultrasonography and genetic investigation. If a blockage in the lower sperm pathways is suspected, additional imaging showing this region is also recommended.
In the hormone tests, values such as FSH, LH and testosterone are looked at. These values show the balance between the production capacity of your testes and the hormone signals sent by the brain, and guide the distinction of the type. At the examination the size of the testes and the sperm pathways are looked at. The doctor also asks about infections you have had, operations, your childhood testicular history and cancer treatments.
A single test does not settle the type on its own; the findings are interpreted together. Medicines containing anabolic steroids or testosterone can suppress sperm production; if you use them, tell your doctor, and do not start or stop these medicines without consulting your doctor.
Why is genetic assessment important?
In men with azoospermia, a genetic factor sometimes lies behind the problem. Guidelines on this subject recommend chromosome analysis and genetic counselling in azoospermia and severe sperm deficiency. Depending on the situation, tests that look for losses of certain genetic regions and for genetic changes linked to some congenital structural conditions may also be considered. The doctor chooses which investigation will be done according to the semen result, the hormone findings and the examination.
This investigation is important for several reasons. First, the finding may explain the cause. Second, because some genetic findings can affect the result of a sperm retrieval attempt, this investigation is done before the decision to attempt it. Third, a genetic finding can be passed on to the child; for this reason genetic counselling is recommended before assisted reproduction treatment is started. In counselling the couple can discuss how the finding may be reflected in the child and which options are open.
What are treatment options determined by?
The options vary with the type and the cause. The doctor decides which is suitable, also taking into account the couple's situation and the woman's age and ovarian reserve.
What can be done if there is a blockage or a hormonal cause?
In azoospermia due to blockage, if the blockage is at a level that can be repaired, microsurgical repair is considered. If the woman's ovarian reserve is good, repair is recommended. In situations where repair is not possible, the woman's reserve is limited, or the couple prefers assisted reproduction treatment directly, the route of sperm retrieval is taken.
In azoospermia due to a production problem, if the cause is hormonal, hormone treatment can support sperm production. Situations in which the hormone signal from the brain is deficient are an example of this. In a production problem with no cause found, the data on the benefit of treatments given with medicines are limited.
Can assisted reproduction treatment be done if there is no sperm in the ejaculate?
If there is no sperm in the ejaculate, the route of retrieving sperm from the testis or from the sperm pathways may be considered. The sperm obtained is used with the microinjection method, in which a single sperm cell is placed directly into the egg in the laboratory. You discuss in detail with the doctor who will perform the procedure when, how and with what risks it will be done. Whether sperm will be found cannot be predicted reliably beforehand from clinical and hormonal findings.
Why is your general health looked at in the assessment?
A sperm problem can sometimes be a sign of a condition related to the body's general health. Guidelines on this subject recommend that infertile men be given counselling on general health and that scrotal ultrasonography be done because of the risk of testicular cancer. For this reason the assessment of azoospermia does not focus only on the absence of sperm; hormone balance, genetic status and testicular health are also reviewed.
If the woman's age is advancing, a delay in the assessment can lengthen the couple's overall process. Because it is known that obesity, inactivity, smoking and excessive alcohol can adversely affect sperm quality, making adjustments in these areas is recommended for general health.
Frequently Asked Questions
Does azoospermia definitely mean childlessness?
No. Azoospermia is a laboratory finding and does not by itself determine your future. As the type and the cause become clear, which routes are open also becomes clear; a definite judgement cannot be reached before the assessment is complete.
Which doctor should be seen?
The doctor who requested your semen analysis or a urology specialist can start the assessment. After the history and examination, the doctor chooses which of the hormone, imaging and genetic investigations are needed.
What should be prepared before going to the assessment?
Bringing your previous semen analysis reports in their original form, with the date and laboratory information, makes the assessment easier. Also have with you any previous hormone and imaging results. Arranging the reports by date makes it easier for your doctor to make comparisons.
Is the absence of sperm in a single semen analysis enough for the diagnosis?
No. If the first analysis is abnormal, the diagnosis is confirmed with consecutive analyses. Your report is assessed together with your other findings.
If there is no sperm in the ejaculate, is there no sperm in the testis either?
No. Although sperm is produced, it may be unable to reach the ejaculate because of a blockage. In the type due to a production problem, production may be completely absent or very limited.
Does a hormone test alone show the type of azoospermia?
No. Values such as FSH, LH and testosterone guide, but they are interpreted together with the history, examination and the other investigations.
May genetic counselling be needed before treatment?
Yes. Some genetic findings can affect the result of a sperm retrieval attempt and can be passed on to the child. For this reason genetic assessment is considered before the decision for the attempt, and counselling before assisted reproduction treatment.
Can repair be done if there is a blockage?
Yes, if there is a blockage at a level that can be repaired, microsurgical repair can be considered. The woman's ovarian reserve and the couple's preferences are also taken into account in the decision between repair and sperm retrieval.
Can every azoospermia due to a production problem be treated with medicines?
No. In hormonal causes, treatment can support sperm production; in a production problem with no cause found, the data on the benefit of medicine treatment are limited.
Is it certain beforehand that sperm will be found in a sperm retrieval attempt?
No. Whether sperm will be found cannot be predicted reliably beforehand from clinical and hormonal findings. You should discuss the possible options and risks with the doctor who will perform the procedure.
Do I need to tell the doctor about medicines containing testosterone?
Yes. Medicines containing testosterone and anabolic steroids can suppress sperm production. Report your use to your doctor; do not start or stop them on your own decision.
Are my partner's age and ovarian reserve also taken into account in the assessment?
Yes. The options are not determined by the type of azoospermia alone. The couple's situation, the woman's age and ovarian reserve are also taken into account in the planning.
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