Disturbance of Cortisol Production in Congenital Aldosterone Deficiency

ABSTRACT Cortisol production and metabolite excretion have been studied in 2 male infant siblings who manifested failure to thrive, salt wasting, elevated urinary Porter-Silber reacting steroids, and evidence of an 18-dehydrogenase defect in aldosterone biosynthesis (Pediatrics 41: 403, 1968). The present investigation demonstrates that under certain conditions cortisol production or regulation is also aberrant: (a) dexamethasone only suppressed cortisol production rate (CPR) and urinary tetrahydrocortisol (THF) and tetrahydrocortisone (THE) excretion partially in the hyponatremic state, and (b) CPR and urinary THF and THE excretion were reduced to markedly subnormal levels following initial restoration of salt balance with desoxycorticosterone acetate (DOCA) and NaCl. After prolonged DOCA and salt therapy, CPR and urinary cortisol metabolite excretion returned to normal and the partial resistance of CPR to dexamethasone suppression could no longer be demonstrated. These data suggest a relationship betwee...