Unusual presentation of simple virilising congenital adrenal hyperplasia as a testicular adrenal rest tumor

Testicular adrenal rest tumors are commonly seen in congenital adrenal hyperplasia. The tumors are typically bilateral and arise from ACTH dependent aberrant adrenal cells in the testes. Diagnosis is clinically confirmed by ultrasound imaging. These tumors are characterized by their response to steroid replacement and biopsy is not routinely required. Differentiating the tumor from Leydig cell tumor can be difficult. Management and prognosis for these two pathologies are different, so extensive investigations may be required to confirm the diagnosis. We present a 5 year old boy who had an unusual presentation of a testicular tumor and detail the investigations undertaken to differentiate a testicular adrenal rest tumor from a Leydig cell tumor.

Key-words:

Congenital adrenal hyperplasia (CAH) - testicular adrenal rest tumor (TART) - Leydig cell tumor - Synoptophysin

Publication History

Received: 06 June 2014

Accepted: 18 July 2014

Article published online:
07 July 2022