Diagnostic Challenges of an Extremely Large Testicular Adrenal Rest Tumor - a Case Report

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder characterized by elevated levels of adrenocorticotropic hormone (ACTH) and overproduction of adrenal sex steroids. It is speculated that the correlation between CAH and testicular adrenal rest tumors (TARTs) is caused through ACTH-triggered progression of aberrant adrenal cells in testes. Case Presentation: Here, we present a case of a nine-year-old boy with bilateral testicular masses referred to Ghaem hospital (Mashhad, Iran), in the summer of ۲۰۱۹. Laboratory studies revealed elevated ACTH and ۱۷-hydroxyprogesterone confirming the diagnosis of CAH. Radiologic assessment showed bilateral multiple heterogeneous masses that had replaced the normal testicular tissue. Conclusions: Due to the rare nature of TARTs and their manifestations, many of these patients, like ours don’t get prompt detection. It seems crucial for urologists and radiologists to be familiar with this condition as a benign differential diagnosis of bilateral testicular tumors

Keywords:

Congenital Adrenal Hyperplasia , Sex steroid hormones , testicular adrenal rest tumors