Testicular Sarcoidosis: A Rare, But Possible Cause for Male Infertility

Testicular sarcoidosis, an inflammatory condition of the testes, has been suggested as a cause of male infertility.

What Is Testicular Sarcoidosis?

Affecting only approximately 1 in 10,000 people in the United States, sacroidosis, also known as Boeck’s sarcoid or Schaumann-Besnier disease, is a rare chronic inflammatory disorder which leads to the formation of small abnormal lumps or nodules, called epitheloid cell granulomas, which occur in different organs within the body. Testicular sarcoidosis is caused from this disease and presenting granulomas growth on the testes.

In individuals who suffer from testicular sarcoidosis, infertility is a result of the disease destroying the blood vessels in the testes, leaving them unable to produce enough sperm. If left untreated, this disease can progress and symptoms may worsen or evolve to include other surrounding organs that are impacted by sarcoidosis. In a study of 60 patients with reproductive tract involvement of sarcoidosis, these inflammatory disease involved the epididymis in 73 percent, testis in 47 percent, spermatic cord in eight percent, and the prostate in three percent.

What Causes Testicular Sarcoidosis?

Typically occurring in young men and men up to 40-years-old, this condition does not have a single direct cause, and its risk factors are unknown, however it is believed that genetics, infection or injury to the testes can all be at play. Certain factors have been implicated as causes of testicular sarcoidosis such as human leukocyte antigen subtypes and infectious agents including Mycobacterium tuberculosis and human herpes virus (subtype 8), however definitive relationship has yet to be established through studies.

Signs and Symptoms of Testicular Sarcoidosis

Signs of testicular sarcoidosis can mimic many common urologic conditions, and while sarcoidosis is a benign inflammatory disease, it can often times present symptoms that mimic malignant or infectious conditions of the genitourinary (GU) system; thus leading to failed diagnosis and unnecessary medications or surgical procedures. When it comes to sarcoidosis, most cases go asymptomatic, however general symptoms can include labored breathing, cough, chest pains, and weight loss. In regards to testicular sarcoidosis, which remains a rare phenotype of the disease, men may be asymptomatic or present the most obvious signs of a lump on one of the two testicles which may cause pain or discomfort. Infertility can be another big sign of this condition and occurs as a result of the impact on blood vessels in the testicles.

As one compilation of research found, “epididymal sarcoid, the most frequently involved GU site of sarcoidosis, usually presents as a unilateral painless mass, although bilateral masses may be present. Although these masses often regress with steroid treatment, these lesions can also develop or progress during steroid treatment.”

Sarcoidosis can also present itself as other scrotal masses, including granuloma of the vas deferens or scrotal skin, however, these are symptoms re even more rare and little is known about sarcoidosis onset at these sites.

Diagnosing Testicular Sarcoidosis

Due to the rarity of this disease and the likeness to other urological conditions and risks, diagnosing testicular sarcoidosis is difficult and relies on process of elimination to eventually turn in this direction. In addition to physical examination, doctors use a plethora of laboratory tests to help determine whether  testicular sarcoidosis may be a concern. ultrasounds for epididymal enlargement and/or heterogeneity, blood tests, and MRIs of epididymal tissues, are some of the means to which doctors may progress their diagnosis efforts when seeking out any abnormalities that may point to sarcoidosis.

Treatment Options for Sarcoidosis

If there is no cancer in the body (Simultaneous testicular cancer and sarcoidosis have been demonstrated in multiple cases, and a review of published cases in 1998 found 49 reported patients with both testicular malignancy and sarcoidosis), taking steroids may be an option to stop the growth of the granulomas. However, if cancer has spread outside of the testicles, this type of treatment may not be enough to stop sarcoidosis, and surgery can often be required if there is a lump on one or both testicles. In many cases, though, patients are unable to have an operation because of how advanced the combination of the two diseases has progressed.

Due to its rarity, testicular involvement of sarcoidosis is difficult to treat. There are limitations in treatment beyond corticosteroid, although disease-modifying anti-rheumatic drug (DMARD) therapy is often favored. Because it is difficult to differentiate from malignant conditions and infection, these types of diagnosis can, at times, require complete removal of the testis for anatomical study of the cells and tissues. This type of approach, and depending on the severity of the sarcoidosis, can lead to hypogonadism and may affect men’s fertility.

While testicular sarcoidosis can ultimately lead to infertility among patients, the rarity of the case can put most men at ease when it comes to eliminating possible fertility-impacting conditions. However, knowing how sarcoidosis develops and presents itself can help researchers and doctors continue to study the condition to further advance diagnosis procedures and treatment options for the future.