Background: Testicular tumors have been reported in boys and adolescents with congenital adrenal hyperplasia (CAH) inadequately controlled by hormonal therapy.
Case Reports: Two adolescents were treated for CAH due to 21-hydroxylase deficiency. They developed hyperplastic nodular testes at the age of 16 and 17 years, respectively. CAH in both was inadequately controlled as confirmed by hormonal studies. The tumors regressed after adequate steroid therapy in the first patient but persisted in the second patient despite normalization of 17-OH progesterone and plasma renin activity.
Conclusion: Testicular ultrasonography should be systematic in all male patients with CAH since radiological findings are earlier than clinical manifestations. The ACTH-dependent tumors require intensification of hormonal therapy in order to obtain tumoral regression and to prevent infertility.