Leydig Cell Tumor Mimicking Testicular Adrenal Rest Tumor in a Child with Congenital Adrenal Hyperplasia

Abstract: Leydig cell tumors (LCT) are usually unilateral and can seldom show malignant behavior. Testicular adrenal rest tumors (TART), which typically present bilaterally, are always benign and associated with congenital adrenal hyperplasia (CAH). Herein, along with a literature review, we aim to present a rare case of CAH associated with bilateral testicular masses, which led to difficulty in differential diagnosis between LCT and TART. An 8-year-old boy with 11β-hydroxylase deficiency was referred to an outpatient clinic because of bilateral testicular masses. From his medical history, it was ascertained that he was under hydrocortisone treatment for 4 years after his first surgical examination, followed by serial ultrasounds with a preliminary diagnosis of TART. However, testicular masses gradually enlarged during follow-up, and magnetic resonance imaging showed characteristic findings for LCT. The patient underwent bilateral testis-sparing surgery, and histopathological examination was reported as benign LCT. The patient has been doing well postoperatively for 6 months. Although emerging bilateral testicular masses in patients with CAH may suggest TART, they may rarely originate from LCT and cause delay in diagnosis or difficulties in differential diagnosis in cases that do not respond to hormonal replacement.

Cite this article as: Bahadır K, Ural S, Başsorgun Cİ, Parlak M, Karagüzel G. Leydig cell tumor mimicking testicular adrenal rest tumor in a child with congenital adrenal hyperplasia. Endocrinol Res Pract. 2024. [epub ahead of print]