The Beauty of a Differential Diagnosis in Male Fertility

Category: Male Infertility | Posted on Apr 3, 2015
The Beauty of a Differential Diagnosis in Male Fertility

Healthcare is a collaborative effort. It is vital for all medical specialists to act as a single cohesive unit in order to provide patients with the most accurate diagnosis to provide effective treatment. One of the most valuable tools a physician can utilize is suggesting a consultation (second opinion) with a specialist who can provide a more in-depth and accurate identification of a patient's diagnosis. This cooperation between physicians allows for a more well-rounded evaluation, and helps to guide patients toward the best possible health care. However, not every doctor is eager to have their own diagnosis questioned, and thus may not utilize such a valuable system.

It is important to remember that even doctors are human and hence capable of mistakes, which is why it is essential to have physicians who specialize in fields be given the opportunity to confirm more serious diagnoses. It takes years of experience and specialization to better understand which treatments will be most effective for different patients.

Recently, Dr. Bastuba of the Male Fertility Specialists evaluated a patient in this exact situation. This patient, (who we will call “Paul” for privacy purposes), had been seen by a general urologist about his fertility concerns. Upon testing it was found that Paul had no sperm in his ejaculate, a condition known as azoospermia. The urologist then recommended to Paul that he have a testicular biopsy in order to uncover the cause of his infertility and azoospermia - primarily being either a blockage in the reproductive tubes or simply a lack of sperm production. Paul wasn't thrilled on the idea of an invasive procedure on his testicles just to identify the problem, and he decided to get a second opinion before committing to the biopsy. Paul turned to Dr. Bastuba's expertise in fertility care for a differential diagnosis.

Upon Paul's visit to the Male Fertility Specialists, Dr. Bastuba found that there appeared to be no evidence of the vas deferens tube on either side of his scrotum. In addition to this, Paul's epididymis–the tube at the back of the scrotum–was firm, suggesting to Dr. Bastuba that this was a condition known as congenital bilateral absence of the vas deferens. This fairly obscure disease is in fact an unusual form of cystic fibrosis, a condition normally associated with the lungs as well as the pancreas. Due to cystic fibrosis being a genetic disorder, Dr. Bastuba recommended a genetic test be conducted. This was a much more appealing and straightforward process for Paul over a testicular biopsy. Upon genetic testing, it was confirmed that Paul did indeed present mutations that are associated with cystic fibrosis.

Paul was informed of his test results, and did not need to undergo a biopsy find out if he was producing sperm. Instead, Paul was treated in the Male Fertility Specialists' center with a testicular sperm extraction procedure. This procedure was not only diagnostic in the sense that it verified what we already expected from the genetic test, that being an absence of his vas deferens, but it also allowed storing of Paul's sperm by way of freezing it. This way, Paul will be able to later thaw his sperm for use in in-vitro fertilization procedures. Typically these types of patients have a promising chance for conception as long as their spouse is able to conceive. Through Dr. Bastuba's efforts, Paul was given the ability to have a child with his wife through this procedure.

In the end, Paul would have likely eventually received proper treatment with the other urologist, but Dr. Bastuba's second opinion not only expedited the process (time being a variable that is very important when considering having children), but also required less procedures, which saved on cost - not to mention the procedures were less invasive. Dr. Bastuba's experience and expertise in the male reproductive field gave Paul and his spouse an enhanced and less stressful opportunity to fulfill their dreams of having a family.