Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

Abstract EN

We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH).

The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compound heterozygous for the I172N and I2splice mutations.

The masses were not removed since myelolipomas are considered benign tumors, and the tumor size did not increase during four- and nine-year observation periods.

An adrenal myelolipoma is an important exception to the rule that large tumours should be removed.

Untreated CAH with prolonged excessive ACTH stimulation might contribute to the growth of adrenal masses.

CAH should be considered as a differential diagnosis of patients with adrenal masses or adrenal myelolipomas.