What Diseases Are Associated with Azoospermia?

Azoospermia is a seminal alteration characterized by the absence of sperm in the ejaculate. This condition in men is often associated with other diseases. In fact, it is common for azoospermia, whether secretory or obstructive, to arise as a consequence of other genetic or anatomical conditions.

The absence of sperm in the ejaculate is the cause of infertility in 15% of men. Although there are many diseases that can cause azoospermia, the ones with the most direct relationship are detailed in this article.

Genetic abnormalities

There exist different chromosomal and genetic abnormalities that can lead to male infertility, whether it is caused by obstructive or non-obstructive/secretory azoospermia. Some of the most common ones are:

Klinefelter syndrome

Klinefelter is a chromosomal alteration characterized by an extra X chromosome. Therefore, males with Klinefelter syndrome have a karyotype 47, XXY instead of the normal 46, XY.

Karyotype of Klinefelter Syndrome

Most males with this abnormality have secretory azoospermia, as this chromosomal abnormality causes a hormonal imbalance that affects spermatogenesis (sperm production) negatively. Moreover, in case sperm are produced, they are likely to be aneuploid, that is, there are higher chances for them to have chromosomal alterations.

Depending on the level of severity, the effects of this sperm disorder on fertility can be more or less serious. However, some men affected by this pathology have managed to become fathers through assisted reproduction techniques.

You can get more information about this genetic disease here: Klinefelter Syndrome (XXY Syndrome) - Symptoms, Causes & Fertility.

Y chromosome microdeletion

Chromosome Y, responsible of male sex differentiation, contains unique genes that are involved in sperm production. The loss of small portions of the area containing these genes, known as AZF region, can lead to a lack of some of these genes, thereby affecting spermatogenesis directly.

Between 10-15% of the cases of non-obstructive azoospermia are due to Y chromosome microdeletion.

Azoospermia due to microdeletions on the Y-chromosome

In addition, Y chromosome microdeletions in men have an incidence of 1 in 4,000 men and is the second most common genetic cause of male infertility after Klinefelter syndrome.

Kallman syndrome

It is a Y-linked genetic disease that alters the function of the hypothalamus, leading to hormonal irregularities. As a result, spermatogenesis is compromised.

The main characteristic of men affected by this syndrome is the lack of testosterone. For this reason, men with this abnormality suffer, among other symptoms, infertility.

What causes Kallman's Syndrome?

If you want to continue reading on this topic, we recommend this post: What is Kallmann Syndrome? Symptoms, Causes & Treatment.

Cystic fibrosis

Cystic fibrosis (CF) is a hereditary genetic disease that affects the pancreas and the lungs. Moreover, CF can cause infertility issues.

CF is one of the most common genetic diseases in Caucasian people. In fact, 1 out of every 25 persons is a carrier of the CFTR gene mutation, the causal agent of this disease.

About 10% of men with obstructive azoospermia present congenital bilateral absence of the vas deferens, that is, they do not have the ducts in charge of transporting the sperm from the testicles to the urethra. Of these patients, approximately 70% have cystic fibrosis or are carriers of the genetic mutation responsible for the disease.

Cystic fibrosis gene mutation

Chronic renal insufficiency

Chronic renal insufficiency (CRI), also known as chronic kidney disease (CKD), is defined as the progressive and permanent loss of renal activity. It can affect the hormones that cause sperm production severely.

Increased prolactin, FSH, and LH levels, along with decreased testosterone levels, affect spermatogenesis directly, which can cause azoospermia in the most severe cases.

Varicocele

A varicocele is a dilation of the spermatic veins, the set of vessels that nourish the testicles so they are able to produce sperm.

Varicocele can cause azoospermia

In the most severe cases of varicocele, it can have a negative impact on spermatogenesis and even prevent their production, which causes non-obstructive azoospermia. However, a varicocele can cause obstructive azoospermia, too.

The main consequence of varicocele is a reflux that raises the temperature in the testicular area, causing a negative effect on spermatogenesis. In milder cases of varicocele, men show a low sperm concentration. In contrast, those men diagnosed with a severe varicocele present azoospermia and must resort to assisted reproduction techniques to achieve their dream of parenthood.

More on this article: What Is a Testicular Varicocele?

Mumps

There exist certain childhood diseases than can compromise the adequate development of the male reproductive tract, causing non-obstructive azoospermia during adulthood due to an inflammation of the testicles (i.e. orchitis).

A good example of this type of diseases is epidemic parotitis, commonly known as mumps. This condition causes mumps orchitis (testicular infection caused by the mumps virus).

Other childhood diseases that can cause diseases in the male reproductive tract are orchitis and meningitis, high fever or certain severe infections (for example, the one caused by the Chlamydia trachomatis bacterium).

Cryptorchidism

Cryptorchidism is an anomaly of the male reproductive tract that prevents the testes from descending from the scrotum. As a result, they can remain trapped in the abdominal cavity or the inguinal canal.

If cryptorchidism is not treated during childhood, it can lead to permanent infertility, increasing the risk of testicular cancer.

Cryptorchidism and sperm production failure

During embryo development, the testes descent through the inguinal canal into the scrotum. Right after childbirth, they are found in the scrotum.

This situation allows the testes to be at a temperature that is about 2 °C below the temperature of the rest of the body. These conditions are necessary for spermatogenesis to occur adequately. For this reason, undescended testicles (located in the pelvic cavity) are a cause of non-obstructive azoospermia).

Testicular cancer

This is the malignant proliferation of cells in the testicle. The damage caused at the testicular level can compromise the production of spermatozoa and, therefore, be the cause of azoospermia.

The most common symptoms in men with testicular cancer are the following:

• Inflamed testicular area, either at the epididymis level or at the level of the testicles..
• Appearance of a lump in the testicle.
• Genital pain or heaviness.
• Accumulation of fluid in the scrotal area.

Possible symptoms of testicular cancer

Although these clinical manifestations in the male may also be related to other alterations, it is recommended that the specialist be consulted in order to establish the possible causes and the best treatment for this.

FAQs from users

What genetic causes are associated with azoospermia?

There are multiple genetic causes that can lead to azoospermia or the absence of sperm in the semen. Below are the most well known:

Alterations in the karyotype

sometimes the testicle is not formed correctly.

Y chromosome micordelections

affects the genes that code for sperm production, which can lead to azoospermia.

Cystic Fibrosis

This genetic disease is characterized by microtubule obstructions, which can lead to azoospermia.

Other problems

Multiple genes are involved in sperm generation. The failure of one or more of them, sometimes difficult to detect, can be linked to azoospermia.

Can genetic azoospermia be cured?

Genetic diseases such as Klinefelter Syndrome or Kallmann Syndrome do not have a cure, although there exist symptoms that can relieve or improve the qualify of life of these patients. For example, there are hormonal replacement therapies or surgical procedures that can help eliminate azoospermia when it is caused by any of these diseases.

Can stress cause azoospermia?

Yes, situations that increase anxiety or stress levels can alter the hormones that regulate sperm production, causing zero sperm count. However, these are situations of temporary azoospermia that allow the affected man to recover fertility after returning to normality. In other words, as soon as increased stress levels decrease and the man is more relaxed, sperm production starts anew and azoospermia disappears.

Suggested for you

These diseases can be the cause of azoospermia, but there exist other situations like trauma or certain surgical procedures that can lead to zero sperm count. Want to learn more about the potential causes of this sperm disorder? Check them out here: What Are the Causes of Azoospermia?

Also, we have made reference to several diseases. To learn more about each one of them, you can visit this post: Testicular Disorders & Infertility – Impact on Reproductive Function.