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Two adults with adrenal myelolipoma and 21-hydroxylase deficiency. 2009

Ingrid Nermoen, and Ivar Følling, and Kjetil Vegge, and Arne Larmo, and Bjørn Gunnar Nedrebø, and Eystein Sverre Husebye, and Kristian Løvås
Department of Endocrinology, Akershus University Hospital, 1478 Lørenskog, Norway.

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.

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