Abstract
A new form of adrenal hyperplasia in a 12-year-old boy is being described. The unique features are: 1. classical signs of primary hyperaldosteronism, i.e. mild hypertension, hypokalemic alkalosis, low plasma renin, hypervolemia and fixed hyperaldosteronism unaffected by sodium restriction or excess; 2. low normal plasma levels of cortisol, corticosterone but elevated plasma aldosterone; 3. elevated plasma ACTH; 4. low normal urinary free cortisol, 17OH, 17KS, pregnanetriols which respond poorly to ACTH; 5. normal rise of plasma testosterone to chorionic gonadotrophin; 6. marked decrease of aldosterone production and marked fall in elevated blood pressure following treatment with glucocorticoids; 7. after 6 months of prednisone therapy blood pressure and aldosterone response to restriction and administration of sodium remain normal. Turnover rates of corticosterone (B), desoxycorticosterone (DOC), cortisol (F), and desoxycortisol (S) studied under conditions of: sodium restriction and excess; ACTH stimulation; Metyrapone inhibition and Decadron suppression in 2 normotensive siblings and father reveal that only the patient demonstrates deficiency in cortisol secretion but the hypertensive mother has an abnormal aldosterone regulation. On the basis of steroidal data obtained, a partial 17-hydroxylase defect in the adrenal and not the gonad appears to explain the syndrome best. This form of hypertension is noteworthy because it is alleviated by medical treatment and may be misdiagnosed as primary hyperaldosteronism.
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New, M., Peterson, R. & McCrory, W. 18 New Form of Congenital Adrenal Hyperplasia. Pediatr Res 1, 204–205 (1967). https://doi.org/10.1203/00006450-196705000-00025
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DOI: https://doi.org/10.1203/00006450-196705000-00025