Diagnosis

azoospermia diagnosisThe primary question that needs answering when faced with azoospermia is whether the problem lies in the sperm production or in the sperm delivery. Are the testes simply not producing sperm or are they producing normally, but are unable to deliver them in the ejaculate? The patient will need to undergo an azoospermia evaluation in order to distinguish between these two causes.

The diagnosis for azoospermia is based on a confirmation of the absence of spermatozoa following the microscopic analysis of a complete semen sample. In order to define the causes of azoospermia, hormonal analysis (FSH, testosterone), history and physical examination will be undertaken. When taken together, these factors are able to provide a 90% prediction of the type of azoospermia – whether obstructive or non-obstructive – that the patient is suffering from. For a complete definition of the type of azoospermia, the patient will need to undergo a diagnostic testicular biopsy.

Azoospermia Evaluation

During consultation, your doctor will carry out a thorough review of your medical problems, past surgery, family history, medications and exposures for purpose of defining the causes of your azoospermia. This will be followed by a brief, well-performed physical examination.

Physical Examination

This is the first and simplest test to take when checking for azoospermia. Because the bulk of testes consist of sperm producing elements (seminiferous epithelium), when the size of the testicles has been diminished severely, this is an indication that the seminiferous epithelium has been affected. During the physical examination, the scrotum is checked for the presence of varicocele or dilated veins, which is confirmed via an ultrasound probe that is place on the skin of the scrotum. The doctor will also check the ductal systems to confirm their presence. If missing, this will confirm congenital absence of the vas deferens or CAVD. During the examination of the ductal structures, the doctor will feel the epididymis to check for dilation which may be an indicator that there is a blockage. This condition is generally believed to occur due to the genetic make-up of the patient and will require evaluation by chromosomal analysis.

Chromosomal Analysis – Genetic Testing

Chromosomal AnalysisWhile this is an area of active research, it is recommended that all patients receive basic genetic testing for purposes of measuring the number of chromosomes and viewing the genetic material blocks. It is sometimes suggested that the patient be screened for the genes that cause cystic fibrosis, as well as be tested for specific genetic abnormalities on the male chromosomes that may be causing azoospermia, as this condition may be hereditary.

Hormonal Evaluation

Thereafter, blood tests are taken including testosterone and follicle stimulating hormone (FSH). FSH is the hormone that is made by the pituitary, which is responsible for the stimulation of the testes to produce sperm. If the sperm producing capabilities have been diminished, the pituitary will produce more FSH in an attempt to induce the testes to do its job. If the FSH of the patient is significantly elevated, this is a strong indicator that his testicles are not optimally producing sperm. Testosterone polactin, thyroid stimulating hormone (TSH) and leutenizing hormone (LH) are also measured for purposes of revealing problems that may impact sperm production significantly.

Transrectal Ultrasound

An ultrasound of the ejaculatory duct and seminal vesicles is often performed for purposes of ruling out a blockage of the ejaculatory duct. During this test, an ultrasound probe is placed inside the rectum because the reproductive ducts are positioned near its wall. The ejaculatory duct also traverses the prostate, a gland that may be felt through the rectal wall of males. In cases of dilation of the seminal vesicles, this may be an indicator that they are full of semen due to the inability to properly empty out. It is also possible to observe cysts that exert pressure on the walls of the ejaculatory ducts, thereby blocking them, as well as calcifications inside the ducts. In certain instances, a cyst may be unroofed by operating on the urethra to open it, which causes the decompression of the ejaculatory duct. Should the blockage occur within the ejaculatory duct, the part that is blocked may be removed during a similar procedure.

Urinalysis

In order to test that the ejaculation is not occurring backwards, the patient is asked to first empty his bladder and thereafter ejaculate into a cup. He is then requested to urinate once again, into a different specimen container. If his urine contains sperm, then the patient has ejaculated backwards in a condition known as retrograde ejaculation.

Semen Analysis

Semen Analysis  The doctor will thereafter request the patient for two semen samples, with each undergoing a standard semen analysis. In the event that no sperm is discovered, an additional evaluation will be performed on the semen sample during which it is ‘spun’ down in a centrifuge, thereby concentrating sperm in small amounts, at the tube’s bottom. This semen pellet will then be thoroughly examined by a qualified lab technician for the presence of sperm. If ten sperm or even a single spermatozoon is detected in this pellet analysis, then obstruction of the reproductive tract is ruled out as being the cause of azoospermia. It is extremely valuable to find even the smallest amount of sperm in this pellet analysis as this is an indicator that complete obstruction is not likely to be the cause of azoospermia. This also provides the patient with the option of utilizing ejaculated sperm for purposes of conception, along with assisted reproduction, which eliminates the need for undergoing a procedure for sperm retrieval.

Even if a sperm sample has been found to contain as many as half a million sperm for every ml of semen, a diagnosis of azoospermia may nevertheless be made. This is because it is extremely unlikely that the man will be able to naturally impregnate a female with this quantity of sperm. Should your doctor diagnose you with azoospermia, be sure to request for a copy of the semen analysis results such that you are able to understand the situation. Upon being diagnosed with azoospermia, it is important to inquire from your doctor whether you have:

  • A very low sperm count so that you know that you are at least able to make some sperm, or
  • Absolutely no sperm count at all, this being the worst case scenario.

Based on the Azoospermia Evaluation, if it is still not clear whether the problem lies in blockage or sperm production, further testing may be required. Further testing will involve an examination of the testis itself along with an assessment of sperm production. This may be carried out using several procedures with the classic approach being to perform a testis biopsy under local anesthesia.

Testicular Biopsy

In the event that the patient is suspected to be suffering from a primary testicular problem, they may undergo a testicular biopsy. Testicular biopsy is the oldest and most informative diagnosis used in differentiating between obstructive and non-obstructive azoospermia. A biopsy involves obtaining actual tissue for a laboratory/microscopic examination. This may be carried out through the use of a needle through the skin or with an incision.

If a testis biopsy determines that sperm production is normal in the patient, then the azoospermia is as a result of an obstruction, hence Obstructive Azoospermia. If the ejaculate is not found to contain any sperm, then there is a blockage in the reproductive sperm that is obstructing the movement of the sperm, hence Non-Obstructive Azoospermia.

Most men who undergo a semen analysis fear being diagnosed with azoospermia. However, such a diagnosis doesn’t necessarily mean that the man does not produce sperm or will never be able to produce any sperm, and thus will never be able to conceive a biological child. The accurate diagnosis for azoospermic males is a complicated process. It is important to identify the causes that can be corrected and receive treatment for them. Even if the ejaculate does not contain any sperm, it is often possible to harvest the sperm and use it for purposes of fertilizing a female.