113 11β-HYDROXYLASE DEFICIENCY-CONGENITAL DEFECT OR TUMOR

Abstract

In 3 children with low renin hypertension and virilism, the hormonal profile distinguished the patient with an adrenal tumor producing DOC and androgens from the other 2 patients who had a genetic deficiency of steroid 11β-hydroxylase (11β-OHD). Clinical presentations were remarkably similar as were the baseline serum concentrations of deoxycorticosterone (DOC). The major difference in the baseline hormones consisted of very high DHEA levels in the tumor patient in contrast to very high androstenedione (Δ4) levels in the patients with the genetic defect of 11β-hydroxylation. The stimulation and suppression tests also distinguished the tumor patient. DOC did not stimulate with ACTH nor suppress with dexamethasone (dex). The PRA rose with dex suppression only in the patients with the genetic defect. Serum aldosterone was undetectable in all 3 patients in the baseline period. Conclusion: Though patients with adrenal tumors and those with a genetic deficiency of 11β-OHD have similar clinical presentations, similar PRA, aldosterone and DOC, the androgens and their steroid responses to ACTH and dex are clear distinguising features. (nd=not detectable).