The prevalence of 21-hydroxylase deficiency in adrenal incidentalomas - hormonal and mutation screening

The aim of the present study was to evaluate and compare the response of 17 OHP to ACTH stimulation in patients with various types of adrenal incidentalomas and to examine the occurence of germline CYP21 mutation in these patients.

40 patients (27 females, 13 males) with unilateral and bilateral masses were screened for fi ve most common mutations of the CYP21 in peripheral blood DNA samples. A hormonal evaluation, i.e. baseline plasma values of 17OHP, DHEAS as well as plasma 17OHP and DHEA after ACTH stimulation, was performed in all patients. 21 of them had unilateral adrenal adenoma, 13 patients had adrenal hyperplasia (six of them unilateral) and 6 patients had CT characteristics of other tumors (myelolipomas, cysts, adrenocortical carcinoma).

There were no significant differences in plasma 17OHP, DHEAS and plasma cortisol between all three groups. Stimulated plasma values of DHEA and 17OHP after ACTH administration were significantly higher in patients with adenomas (p < 0.05 and p < 0.01) and with hyperplasia (p < 0.05 and p < 0.05) compared with those with other tumors. An exaggerated response of 17 OHP was found in 5 (12 % ) patients. However, mutation screening in peripheral blood samples revealed no CYP21 mutation in all examined groups.

Although 12 % of patients with adrenal incidentalomas had an exaggerated response of 17 OHP after ACTH administration indicating a possible 21-hydroxylase deficiency, these findings are not associated with CYP21 mutation estimated in peripheral blood samples. There was found no germline CYP21 mutation in all patients with various adrenal incidentalomas.