Adrenocortical llβ-Hydroxylation Defect in Adult Women with Postmenarchial Onset of Symptoms

Abstract

Four cases in adults of a deficiency in the 11β-hydroxylatio of corticosteroids were investigated by both basal and dynamic biological studie Symptoms varied from patient to patient; hirsutism, menstrual disturbance, acne, deepening of the voice, and arterial hypertension appeared post puberty. Basa testing demonstrated elevated levels of plasma androgens. These include Ε₄-androstenedione (patients, 3.80–6.43 ng/ ml; normal, 1.33 ± 0.33 ng/ml), urinary 17-ketosteroids (patients, 11.8–16.7 mg±24 h; normal, 5–10 mg/24 h), and urinary dehydroepiandrosterone. The basal tests were often insufficient to show the accumulation of th precursors (especially 17-hydroxyprogesterone) which are often given as evidence for an increase in ACTH stimulation. In studying the levels of the mineralocorticoids, there was shown to be an increased basal level of tetrahydrodeoxycorticosterone (patients, 142–317 jug/24 h; normal, 60–80 /ig/24 h) which was raised b ACTH stimulation. These results, therefore, confirm the caracteristic partial enzyme defect and give evidence for the heterogeneit ofthis syndrome. Based on th above observations, we believe it is appropriat to rename this condition adult adrenocortical llβ-hydroxylation defect ratherthan late-onset congenital adrena hyperplasia.