Leydig cell tumor in two brothers with congenital adrenal hyperplasia due to 11-β hydroxylase deficiency: a case report

Congenital adrenal 11-beta hydroxylase deficiency is a rare autosomal recessive syndrome characterized by deficient cortisol synthesis and testicular masses. It is extremely difficult to distinguish testicular tumors caused by this syndrome from Leydig cell tumors. As management for each differs, it is important to differentiate the syndromes from each other. Hereby, we present the case of two brothers affected by 11-beta hydroxylase deficiency and presenting with bilateral testicular masses. Two differential diagnoses were noticed for both patients: testicular adrenal rest tumors (TART) and Leydig cell tumor (LCT). In this study the tumors were yellow, firm, and non-tender with intra-testicular location. Histological studies showed cells in a cluster arrangement with low lipochrome pigment concentration. Tumors were unresponsive to ACTH suppression therapy, but a drop in levels of plasma testosterone and urinary 17-ketosteroids occurred after surgical treatment. Considering all above, they were finally diagnosed as having Leydig cell tumors. Both cases were managed by testis-sparing surgery.