Diagnosing cause of azoospermia: What to do next if you find out you don’t have any sperm

Finding out that you don’t have any sperm is devastating for most men (and their partners). Lack of sperm in the ejaculate is called azoospermia. This article is a quick overview of how urologists diagnose causes of azoospermia and what treatment options are available.

The first step to treating azoospermia is to identify a cause. There are two major types of azoospermia, obstructive azoospermia (caused by a blockage in the reproductive system) and non-obstructive azoospermia (caused by a lack of sperm production). Determining if the reason for a lack of sperm is from either a blockage versus a production issue is critical, as both are treated differently.

A “blockage” in the reproductive system means that sperm are being made, but they are hitting a “roadblock” and cannot get out of the body. A production issue means that the piping is open, but no sperm are being produced.

A diagnosis can be made based on lab values, physical exam, or a biopsy.

Physical Exam: At physical exam, men with blockages typically have normal sized testicles, with a length of greater than 4 cm. Sometimes there are other subtle findings, including fullness of the epididymis or lack of a vas deferens (the tube that sperm swim through). Men with a production issue oftentimes have smaller testicles, which may be soft in consistency. They do generally have a vas, which is able to be felt.

Hormone Tests: Blood hormone testing is very useful in distinguishing these conditions. If a man has blockage, his testosterone is generally normal and FSH is in the normal range. This is because the testicle is functionally normal. Conversely, if a man has a production issue, his testosterone may be low and FSH elevated, indicating some degree of baseline testicle functional impairment.

Genetic Testing: There are also some genetic conditions that may result in impaired or no sperm production. One of these is when a man has the genetic complement of XXY, or Klinefelter syndrome. Normally males have the genetic complement of XY and females have XX. If a male has XXY, the “extra” genetic material may result in severely impaired sperm production. The other genetic condition that may result in impaired sperm production is called “Y chromosome microdeletion”. This is when there is a genetic abnormality on the Y chromosome that affects the sperm “blueprint”, resulting in very low or no sperm production. Cystic fibrosis may result in non-formation of the vas deferens. Therefore, men who are carriers for genes causing cystic fibrosis may have obstructive azoospermia.

Testicular Biopsy: The final test to determine if a man is blocked or not is a testicular biopsy. This procedure can be done in the clinic under local anesthesia. Once the testicle is completely anesthetized, several pieces of tissue are taken and examined under a microscope looking for sperm.

If a blockage is found, the decision is then made for sperm retrieval concurrent with an IVF cycle versus reconstructive surgery. If a production issue is identified, therapies with medications may be considered to stimulate the testicle to make sperm.