Gynecomastia and Bilateral Testicular Masses Secondary to Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)

A patient who presented initially in infancy with congenital adrenal hyperplasia, salt-losing type, and who developed normal secondary sex characteristics at puberty, subsequently developed feminization associated with elevated estrogen levels and bilateral testicular masses on sonography. Selective catheterization of adrenal and spermatic veins revealed an adrenal source of estrogen, and the hormonal values indicated that he had been non-compliant in taking his glucocorticoid therapy. Following reinstitution of adequate treatment, serum testosterone rose and there was a concomitant fall in serum estradiol and 17-alpha-hydroxyprogesterone. The gynecomastia improved and libido returned. The testicular masses disappeared, confirming that they were not primary testicular neoplasms, but were instead pseudotumors of adrenal rest tissue. The case illustrates the value of serial sonography in following the response of this rare complication to therapy.