Testicular tumors in a patient with untreated congenital adrenal hyperplasia

Abstract

Introduction: Testicular adrenal rest tumors (TART) are frequently present in male patients with congenital adrenal hyperplasia (CAH), which is an inherited disorder affecting the steroid synthesis of the adrenal gland. TART are benign tumors and in most patients are present bilaterally. Having no malignant features, there seems to be no need to remove them at an early stage. However, because of the central localization of the tumors near the mediastinum testis, the compression of seminiferous tubules may lead to infertility by obstructive azoospermia and irreversible damage of the surrounding testicular tissue. Case report: We present the case of a 15 years old boy, diagnosed with CAH due to 21- hidroxylase deficiency at the age of 2 months. The patient was treated with glucocorticoids (Prednisone 10 mg per day) and salt supplementation during the next 6 years. Then he interrupted treatment without consulting a specialist. After six months the patients observed an enlargement of the scrotal bursae and was hospitalized in the endocrinology clinic. Laboratory investigations revealed high levels of ACTH and 17-hidroxi-progesteron, and low gonadotropins. The ultrasound detected increased testicles with multiple hypoechoic images and bilateral adrenal adenomas. The investigations pleaded for CAH complicated with TART. The glucocorticoid therapy was again initiated. The follow-up at one month revealed an improvement of hormonal parameters: a lower testosterone level with slightly increased gonadotropins, but still a high 17-hidroxi-progesterone. Ultrasonography showed decreased dimensions of testicles and of the adrenal glands. Discussions and Conclusions: TART is the most important cause of infertility in adult male patients with CAH and intensifying glucocorticoid therapy is the first step in their management. The differential diagnosis is made with Leydig tumors which are usually unilateral, unifocal, have small dimensions, and are symptomatic by gynecomastia and diminished libido. Leydig tumors do not associate with any specific clinical background. In our patient, taking into account the decrease with 25% of the testicular dimensions and the improvement of biological balance under the glucocorticoids treatment, the diagnosis was in favor of TART.