Abstract
Two brothers, ages 7 and 9, with systolic and diastolic hypertension; normal growth; absence of virilism; hypokalemic alkalosis; elevated urinary aldosterone (UA), tetrahydroaldosterone (THA), tetrahydrocorticosterone; low plasma renin activity (PRA); and high plasma aldosterone (PA) were studied. Mild elevation of urinary 17-ketosteroids (KS) and marked elevation of 17-ketogenic steroids (KGS) was noted intermittently in both boys. Plasma cortisol (F) was low-normal in the older and normal in the younger subject. Spironolactone in the younger corrected the hypokalemic alkalosis without lowering the BP. Dexamethasone therapy, 8 mg/day for one week, also corrected the hypokalemia and lowered the BP withing the first week in bothe subjects; correction has been sustained for four months with prednisone, 5mg/day in the older and 2.5 mg/day in the younger subject. THA remainder elevated but PRA became normal during the first 2 weeks of treatment. THA and UA fell to normal levels and F was suppressed by the fourth week, but KS adn KGS remained intermittently elevated. The unique features in these cases are: a.) occurrence in male siblings; b.) lack of biochemical data supporting a complete or partial 11, 17, or 21-hydroxylase deficiency; c.) rapid fall in BP elevation and rapid correction of PRA and PA abnormalities with large doses of glucocorticoids; d.) delayed fall of THA excretion and e.) persistent elevation of KGS and KS. The findings of a generalized adrenocortical hyperactivity not totaly suppressed by glucocorticoid therapy are consistent with adrenocortial adenomata.
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Giebink, G., Gotlin, R., Kate, F. et al. Fimilial primary aldosteronism with delayed glucocorticoid responsiveness: A new sndrome. Pediatr Res 5, 400–401 (1971). https://doi.org/10.1203/00006450-197108000-00123
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DOI: https://doi.org/10.1203/00006450-197108000-00123