[Adrenal enzymatic block with late-onset caused by 11-hydroxylase deficiency. Apropos of 29 cases].

Late-onset congenital adrenal hyperplasia is a cause of a spectrum of clinical manifestations of postnatal androgen excess. In these cases, ACTH stimulation test with measurement of 17-Hydroxyprogesterone (17OHP) is usually done to assess 21-hydroxylase (21-OH) deficiency. Determination of the 11-deoxycortisol (S) and the S to cortisol ratio is rarely done, so that 11 beta-hydroxylase (11-OH) deficiency seems unusual. We systematically investigated this biosynthetic defect among women complaining of hyperandrogenism (n = 519) and, comparing the patient's hormonal responses to ACTH with those of 31 normal women, found 29 11-OH deficiency (5.6%): this is the largest group ever reported. S was elevated only 9 times, so that using this single determination, diagnosis of 20 enzymatic defects would not have been made. Only three of the patients (10%) had hypertension, even though the pathway of aldosterone was involved in 33% of cases (criteria: elevation of the ratio desoxycorticosterone to corticosterone). We also described one new patient with both 11-OH and 3-beta-hydroxysteroid dehydrogenase deficiencies. The patho-physiology is particularly interesting in these cases. It is concluded that the single research for 21-OH deficiency is inadequate among women complaining of hyperandrogenism: the screening for 11-OH deficiency should be made, even if blood pressure is normal.