HYPERTENSIVE VIRILIZING ADRENAL HYPERPLASIA WITH MINIMAL IMPAIRMENT OF SYNTHETIC ROUTE TO CORTISOL

Abstract

One of the first described cases of hypertensive virilizing adrenal hyperplasia (VAH) (Pediatrics 8:805, 1951) has been followed from age 2 1/2 until age 26. Blood pressure as an infant was 150/90, and at age 25 was 220/160. During childhood patient was lost to follow-up for prolonged periods, and received no therapy from age 20 to 25. At this time 24 hr. urinary excretion of 17-KS was 89 mg.; tetrahydro 11-deoxycortisol (tetrahydro S), 47 mg. and pregnanetriol 5.7 mg. Hourly measurements of several plasma steroids by competitive protein binding were made during 24 hrs; concentration ranges were as follows (μg./100 ml): 11-deoxycortisol 6-26; cortisol 3-25; total corticoids 16.5- > 40. Urinary cyclic AMP per 24 hrs. ranged from 5.3-11.6 nmoles/mg. creatinine before therapy, and was 1.9 nmoles after therapy. The results suggest either the formation of an alternate pathway to cortisol synthesis, or the existence of a form of VAH with 2 independent 11-B hydroxylating systems, exhibiting only minimal impairment of the synthetic route to cortisol. The latter would support the presence of 2 independent 11-B hydroxylating systems in the normal human adrenal. This has been suggested by Zachmann et al (JCE 33:501, 1971) to be true in infancy. Our observations on an adult indicate that these 2 systems may not be transitory, but persist into adulthood.