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MARCO A. RIVAROLA, JOSE M. SAEZ, CLAUDE J. MIGEON, Studies of Androgens in Patients with Congenital Adrenal Hyperplasia, The Journal of Clinical Endocrinology & Metabolism, Volume 27, Issue 5, 1 May 1967, Pages 624–630, https://doi.org/10.1210/jcem-27-5-624
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Abstract
Six patients with the simple vitalizing form of congenital adrenal hyperplasia, 4 patients with the salt-losing form of the disease, and 1 patient with a partial 3β-hydroxysteroid dehydrogenase defect have been studied. In all patients with the simple and salt-losing form of the disease, peripheral plasma concentrations of testosterone (T) and particularly of androstenedione (Δ) were elevated. Plasma concentrations of dehydroepiandrosterone (D) and its sulfate (DS) were elevated in some of these patients. In 2 non-salt-losing patients, blood production of T and Δ was determined by the constant infusion technique. The blood production rate of Δ was very high. The blood production of T was also elevated for the age and sex of the 2 patients and approximately 50% of it arose from peripheral interconversion of Δ to T. There was a marked disagreement between blood and urinary production of T. The discrepancy could be accounted for by the contribution of the blood production of Δ to urinary T glucuronide. In the boy with partial 3β-hydroxysteroid dehydrogenase defect, the plasma concentrations of T and Δ were lower than those observed in patients with 21-hydroxylase defect. Although elevated, his concentrations of D, DS and AS were not higher than those of some of the non-salt losers.
