The biosynthesis of steroid hormones 1 requires a number of hydroxylating enzymes. Deficiency of these enzymes is demonstrated by increased or decreased amounts of certain steroid metabolites in blood and urine and is best exemplified by the deficiency of 11,8-hydroxylase (1) and 21-hydroxylase (2) in patients with congenital adrenal hyperplasia. 17a-Hydroxylase activity is present in these disorders because of the increases in secretion of androgens and excretion of pregnanetriol. In addition, a lack of 3-hydroxysteroid dehydrogenase has also been described (3). 17-Hydroxylation is essential not only to the biosynthesis of cortisol but also to the formation of * Submitted for publication July 19, 1966; accepted September 7, 1966 androstenedione = 4-androsten-3,17-dione; compound S= li-deoxycortisol = 4-pregnen-17a,21-diol-3,20-dione; dehydroepiandrosterone = 5-androsten -3,8 -ol -17 -one; dexamethasone = 1,4-pregnandien-9-fluoro-16a-methyl-1 ll,17a, 21-triol-3,20-dione; etiocholanolone = 5,B-androstan-3a-ol-17-one; pregnanediol = 5,8-pregnan-3a,20a-diol; pregnanetriol = 5p6-pregnan-3a,11a,20a-triol; stilbestrol = diethylstilbestrol = aca'diethyl-4,4'stilbenediol; tetrahydroaldosterone = TH aldosterone = 5,8-pregnan-3a,11p,21-trihydroxy-20 keto-18-ol; tetrahydrocortisol = THF = 5fi-pregnan-3a,1llf,17a,21-tetrol-20-one; tetrahydrocortisone = THE = 5fi-pregnan-3a,17a,21-triol-11,20-dione; tetrahydrodeoxycorticosterone = THDOC = 5#-pregnan-3a, 21-diol-20-one; tetrahydro-ll-deoxycortisol = 5,0-pregnan3a,17a,21-triol-20-one; and tetrahydro-18-OH-dehydrocorticosterone = TH-18-OH compound A = 5#-pregnan3a,18,21-trihydroxy-11,20-dione.gonadal hormones (4, 5), the androgenic steroids, androstenedione, testosterone, and, eventually, estrogens (6). Deficiency of this enzyme system should be manifested clinically in both adrenal and gonadal abnormalities if the enzyme is similar in both glands. Furthermore, it is reasonable to assume that lack of 1 7-hydroxylated steroids would allow uninhibited release of adrenocorticotropin. In such a circumstance in which cortisol secretion is absent, prolonged survival would not be anticipated because mineralocorticoids would be the only adrenal steroids produced. We will describe and discuss a patient with deficiency in 17a-hydroxylase activity with possibly a second defect in production of aldosterone. MethodsCase report The female patient M. H. was the product of a full-term normal pregnancy and weighed 7 pounds at birth. Several severe episodes of bronchitis occurred before 5 years of age. The patient was hospitalized for an influenza-like syndrome when she was 5 years old; the mother (29 years) and one sibling (11 months) died from "influenza" at this time. From 5 to 10 years of age the patient was absent from school about one-third of the time because of infections of the upper respiratory tract. She was hospitalized at age 9 for severe upper respiratory infection, high fever, and unconsciousness. Intravenous glucose therapy promptly restored consciousness, and hypoglycemia was d...

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Clinical features of adrenal steroid deficiency occur in patients with the acquired immunodeficiency syndrome (AIDS). To determine the frequency of aberrations in peripheral steroid levels in patients with AIDS and AIDS-related complex (ARC) we measured morning recumbent plasma cortisol, deoxycorticosterone, 18-hydroxydeoxycorticosterone (18-OHDOC), corticosterone, aldosterone, and 18-hydroxycorticosterone concentrations before and after administration of 0.25 mg ACTH (Cosyntropin) in 74 randomly selected hospitalized patients with AIDS and 19 patients with ARC. Basal (0800 h) cortisol levels in the AIDS patients were significantly higher (P less than 0.01) than those in normal subjects, while other ACTH-dependent steroids of the 17-deoxypathway, deoxycorticosterone, corticosterone, and 18-OHDOC, were normal. These latter steroids increased subnormally in response to ACTH in patients with either AIDS (P less than 0.001) or ARC (P less than 0.005), but in ARC patients plasma 18-OHDOC levels were significantly higher than in those with AIDS (P less than 0.001). Supraphysiological doses of ACTH were then administered for 3 consecutive days to 14 patients with AIDS and 9 with ARC, which confirmed and amplified the subnormal responses of these steroids in AIDS. The mean plasma cortisol response was reduced on the third day only in AIDS patients, whereas in the ARC patients the steroid responses were normal. Angiotensin III infusion and postural stimulation increased plasma aldosterone and 18-hydroxycorticosterone levels in AIDS and ARC patients. Defective stimulation of 18-OHDOC alone or in combination with defective stimulation of other 17-deoxysteroids can be a harbinger of subsequent impaired adrenal capacity in AIDS.