AN ADULT CASE OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY ASSOCIATED WITH BILATERAL ADRENAL MYELOLIPOMA : AN 8-YEAR OBSERVATION OF CLINICAL CHARACTERISTICS DURING STEROID REPLACEMENT THERAPY

Abstract

We describe the case of a 44-year-old man with congenital adrenal hyper- plasia (CAH ; 21-hydroxylase deficiency) associated with bilateral adrenal myelolipoma. While undergoing computed tomogaraphy(CT) for the evaluation of persisting flank pain in May 1988, he was diagnosed incidentally as having a bilateral adrenal tumor. Histology of the right extirpated tumor revealed myelolipoma of the adrenal gland, and the other side of the tumor also was diagnosed as myelolipoma by the image diagnostic characteristics. The left side tumor was not extirpated. During examination of hyper-reninism, plasma renin activity (PRA) at 10.5ng/ml/h, he was diagnosed as having congenital adrenal hyperplasia due to elevation of adrenocorticotropin (ACTH), progesterone, and 17 α- hydroxyprogesterone (17 α-OHP). Hydrocortisone with dexamethasone supplemented therapy was started, and the ACTH, progesterone, and 17 α-OHP were normalized, but plasma PRA persisted at high levels. The PRA in this case did not show the degree of sodium loss. During 8 years of observation of the left side myelolipoma by CT, the tumor size did not increase. This case provides an interesting natural history of the clinical characteristics of CAH that went undiagnosed for a long period and an interesting compli- cation of bilateral adrenal myelolipoma.