Hypertensive virilizing adrenal hyperplasia with minimal impairment of synthetic route to cortisol.
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 the patient was lost to follow-up for prolonged periods, and received no therapy from age 20 to 25. At this time 24 h urinary excretion of 17-ketosteroids was 89 mg; tetrahydro 11-deoxycortisol (tetrahydro S), 47 mg and pregnanetriol 5.7 mg. Hourly measurements of several plasma steroids utilizing sephadex LH 20 chromatography and competitive protein binding were made during 24 h; concentration ranges were made during 24 h; concentration ranges were as follows (mug/100 ml): 11-deoxycortisol 8-40; cortisol 0-48; corticosterone 0-15; deoxycorticosterone 1-18. Plasma cortisol, especially showed a significiant morning impairment, but reached normal and even markedly elevated levels during the day and early evening. Urinary cyclic AMP per 24 h ranged from 5.3 to 11.6 n mol/mg creatinine before therapy, and was 1.9 n mol after therapy. The results suggest either the formation of an alternate pathway to cortisol synthesis, or the existence of a form of VAH with two independent 11-B hydroxylating systems, exhibiting only minimal impairment of the synthetic route to cortisol. The latter would support the presence of two independent 11-B hydroxylating systems in the normal human adrenal. This has been suggested by Zachmann et al. (J Clin Endocrinol Metab 33: 501, 1971) to be true in infancy. Our observations on an adult indicate that these two systems may not be transitory, but persist into adulthood.
D000308:Adrenocortical Hyperfunction / Q000150:complications / Q000378:metabolism*; D000328:Adult; D002675:Child, Preschool; D002940:Circadian Rhythm; D003345:Corticosterone / Q000097:blood; D003350:Cortodoxone / Q000097:blood; D000242:Cyclic AMP / Q000652:urine; D003900:Desoxycorticosterone / Q000097:blood; D005500:Follow-Up Studies; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism*; D006973:Hypertension / Q000150:complications / Q000378:metabolism*; D008297:Male
D003900:Desoxycorticosterone; D000242:Cyclic AMP; D003345:Corticosterone; D003350:Cortodoxone; D006854:Hydrocortisone