ADRENARCHE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) DUE TO 21-HYDROXYLASE DEFICIENCY

Abstract

In order to evaluate adrenarche in female patients with CAH, plasma concentrations of dehydroepiandrosterone sulfate (DHEAS) were determined (by a specific RIA) longitudinally from 4 to 11 years of age in 16 CAH children in good clinical and biochemical control, presenting with either a severe classical form (group A; n = 10) or a non classical form (group B; n = 6). In group A, treatment was started at 5 ± 3.5 days of life [hydrocortisone initially 40 ± 5 mg/m², spilt in 3 daily doses, lowered to 20 ± 5 mg/m² as soon as a good control was obtained; fludrocortisone 37.5 μg/m² per day initially, then at maintenance dose of 25 μg/m²/day]. Therapy was started at a mean age of 5.7 ± 0.9 years in group B [hydrocortisone 15 ± 5 mg/m² in 3 daily doses]. Results (in nmol/L) are given as mean ± SD in table 1. In group A, DHAS levels were very low at any age, lower than in controls but also lower than in group B. In the latter, DHAS levels were initially very high for age, then decreased slowly under treatment. In both groups there was no significant riseof DHEAS after age 7-9.

In conclusion : 1). Despite good clinical and biochemical control in these 16 selected patients treated with conventional therapy, a physiological adrenarche didn't occur whatever the age of the onset of the disease. 2). The lack of adrenarche is not due to a decreased capacity to synthesize DHAS, since its levels were very high in untreated girls with non classical CAH. 3). The mechanism by which DHEAS secretion is impaired under substitutive therapy at physiological dose is still not well understood.

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