CONGENITAL ADRENAL-HYPERPLASIA PRESENTING AS MASSIVE ADRENAL INCIDENTALOMAS IN THE 6TH DECADE OF LIFE - REPORT OF 2 PATIENTS WITH ALPHA-HYDROXYLASE DEFICIENCY

Divergent recommendations exist regarding the evaluation of adrenal in cidentalomas. Recent data have indicated a prevalence of adrenal tumor s of 71% in nonclassical congenital adrenal hyperplasia (CAH) and unma sked heterozygotes. These data expand the differential diagnosis of su ch incidental tumors and substantially modify the approach to their ev aluation. We present two patients, female pseudohermaphrodites with th e simple virilizing form of CAH and 21-hydroxylase deficiency, who fun ctioned successfully as married phenotypic males. Both came to medical attention in the sixth decade by virtue of massive adrenal incidental omas encountered in the evaluation of recurrent urinary tract infectio ns. Each had a 46, XY karyotype, no palpable testes, and markedly elev ated baseline levels of 17-hydroxyprogesterone (17-OH Frog) of 6086 ng /dL and 6750 ng/dL. Both responded appropriately to dexamethasone supp ression with reduction of 17-OH Frog, androgens and, in the second pat ient, ACTH to normal or near normal levels. Histologic and autopsy exa mination of the first patient's tumor and computed tomographic charact eristics of the second revealed a benign adenoma and myelolipoma respe ctively. We extend and confirm previous recommendations that CAH be in cluded in the differential diagnosis of adrenal incidentaloma and that baseline 17-OH Frog. levels be obtained, with ACTH stimulation if nec essary, to diagnose the presence of nonclassical CAH.