ADRENARCHE DOES NOT OCCUR IN TREATED PATIENTS WITH CONGENITAL ADRENAL-HYPERPLASIA RESULTING FROM 21-HYDROXYLASE DEFICIENCY

OBJECTIVE There have been few studies of adrenarche in patients with c ongenital adrenal hyperplasia (CAH), We have therefore sought to detec t the onset of adrenarche in CAH patients and to investigate whether i ts evolution was Influenced by the severity of the disease, the age at the onset of substitution therapy, or both. DESIGN AND PATIENTS Sixte en female CAH patients were studied longitudinally for 4-11 years. The y were all given substitution therapy and treatments were well control led as judged by repeated hormonal evaluations. The patients were divi ded into two groups: group A consisted of 10 girls with a severe class ic (congenital) form, while group B included 6 girls presenting with a non-classic form. MEASUREMENTS Circulating levels of dehydroepiandros terone sulphate (DHEAS), were determined as an indicator of adrenarche . Hormonal assessments included measurements of 17-hydroxyprogesterone (17-OHP), testosterone, ACTH and plasma renin activity, All were esti mated by conventional specific assays. RESULTS Mean levels were analys ed in consecutive two-year age periods. In group A, DHEAS levels were significantly lower at any age than in control subjects, and lower tha n in patients with non-classic CAH. DHEAS levels showed no increment w ith age. In group a, plasma DHEAS levels were surprisingly high for th e age at the time of diagnosis, declining gradually on substitution th erapy, although they remained somewhat higher than in group A. CONCLUS IONS The high DHEAS levels observed in untreated girls of group a are probably the result of chronic hypersecretion of ACTH. Under well cont rolled, non-suppressive substitution therapy, patients with congenital adrenal hyperplasia showed no rise in DHEAS levels at the physiologic al age of adrenarche whatever the degree of the enyzme defect and what ever the age at onset of therapy.