Abstract
Congenital adrenal hyperplasia due to 11β-hydroxylase (11β-OHase) deficiency usually produces hypertension and virilization. The hormonal profile is typified by elevated serum and urinary DOC and compound S, and suppressed renin (PRA) and aldosterone (aldo). We report 2 cases in which extreme elevation of serum and urinary precursors of 11β-OHase produced neither hypertension nor suppression of PRA and aldo. These findings correlated with low number of mineralocorticoid binding sites per cell (MRBS) in peripheral blood leukocytes. DOC suppressed following dexamethasone administration, and additional DCC infusion caused transient hypertension and expected renin suppression. We postulate that down-regulation of MRBS is an adaptive response to high DOC, inhibiting mineralocorticoid effects. Normal basal aldo levels indicate intact glomerulosa 11β-hydroxylation, suggesting a defect in tissue-specific expression of the enzyme, rather than a structural gene defect.
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Speiser, P., Neirery, R., Chow, D. et al. ATYPICAL 11β-HYDROXYLASE DEFICIENCY: ABSENCE OF RENIN SUPPRESSION AND HYPERTENSION DESPITE HIGH DOC. Pediatr Res 21 (Suppl 4), 254 (1987). https://doi.org/10.1203/00006450-198704010-00522
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DOI: https://doi.org/10.1203/00006450-198704010-00522