TESTICULAR ADRENAL RESTS IN A CHILD WITH CONGENITAL ADRENAL HYPERPLASIA

Abstract

Males with congenital adrenal hyperplasia (CAH) may lead to development of testicular adrenal rests as a result of hyper-stimulation of aberrant adrenal cells in the testes. Congenital adrenal hyperplasia is a broad spectrum of autosomal recessive disorders caused by a deficiency of an enzyme involved in the production of glucocorticoids, which leads to decrease in cortisol and/or aldosterone production from the adrenal cortex. This causes an increase in production of adrenocorticotropic hormone (ACTH), therefore resulting in adrenal hyperplasia.

We present a case of a 7 year old boy with congenital adrenal hyperplasia and precocious puberty who was found to have bilateral testicular adrenal rests on ultrasonography. Diagnosis of this condition is important when evaluating young males with CAH because it can be often misinterpreted as a primary testicular germ cell tumor or any other common benign testicular lesion. These benign tumors generally present as multiple, bilateral hypoechoic masses on ultrasound, which serves as the primary imaging modality of choice.