genitourinary sarcoidosis and testicular nodules

This patient has genitourinary (GU) sarcoidosis, and testicular involvement is reported in about one-half of cases, most often associated with epididymal lesions, which are noted in about 75% of cases (choice A is correct). Authors of case reports have also noted involvement of the ureters, bladder, urethra, prostate, penis, and skin of the scrotum. Sarcoidosis of the female genital tract is less commonly reported, with involvement noted in the endometrium, vulva, and vagina.

Extrapulmonary sarcoidosis has been observed in most organs and is found in more than 30% of patients with sarcoidosis, most often in the setting of lung findings, but can develop before, after, and sometimes independent of pulmonary involvement. GU sarcoidosis is considered uncommon, with reports of a higher incidence in patients with an age range of 20 to 40 years. About one-half present with constitutional symptoms such as fever, weight loss, and malaise, raising concern for an alternative diagnosis, such as malignancy or infection. Primary GU sarcoidosis is considered rare.

Testicular lesions caused by sarcoidosis are typically nontender, discrete, and palpable and can be unilateral or bilateral (choice B is incorrect). Given that most testicular cancers manifest as a painless testicular nodule or painless swelling of one testicle, physical examination is not helpful to differentiate testicular sarcoidosis from testicular cancer. Ultrasonography is also not able to differentiate these two conditions because seminomas typically appear hypoechoic. The same holds for testicular tumor markers, including serum beta-human chorionic gonadotropin or α-fetoprotein, which are usually normal in GU sarcoidosis and in patients with pure seminomas (choice C is incorrect). Despite diagnosing pulmonary sarcoidosis in this patient, the recommendation to biopsy the testicular mass should be revisited because testicular cancer and sarcoidosis, as noted, can coexist. That recommendation was repeated to this patient, but he continued to decline the recommended approach.

The diagnosis of GU sarcoidosis, as in other uncommon sites, is one of exclusion of other diseases, especially testicular malignancy, which often encompasses the same age range and can manifest similarly. Furthermore, there is a reported increase in the incidence of testicular sarcoidosis and testicular cancer occurring together (choice D is incorrect). Biopsy of the testicular lesion is recommended, and orchiectomy is sometimes performed owing to the overlap in these conditions. Coexisting sarcoidosis and cancer has also been reported with other primary GU cancer sites, such as the kidney, bladder, prostate, and ovary, although the etiologic relationship remains poorly understood.

Although there are no established guidelines for treatment, testicular and epididymal sarcoidosis tend to respond to corticosteroids with a reduction in the size of lesions. This patient was treated with corticosteroids on the basis of a possible diagnosis of obstructive azoospermia. Follow-up ultrasonography results demonstrated a decrease in the size of the lesions. The effect on his fertility is not known.