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A brief account of three cases of the adrenogenital syndrome due to a deficiency of 3,8-hydroxysteroid dehydrogenase has been published (1, 2). It is the purpose of this report to extend the original observations, detail the methodological aspects, and present certain clinical correlations.'The deficiency of 11,8-hydroxylase or 21-hydroxylase as two possible causes of the adrenogenital syndrome with adrenocortical hyperplasia is now well recognized. These aspects have been reviewed in detail recently (2). A direct demonstration of an enzymatic defect in adrenocortical tissue has been possible with respect to 21-hydroxylase in only two instances (3). Such experiments are not generally possible because of the obvious difficulties in obtaining suitable tissue from human subjects with this disorder. The evidence is generally indirect and depends upon the demonstration of "abnormal metabolites" in relatively large amount in the urine or blood. The nature of these metabolites provides the clue to the site of the defect, hence the indirect evidence for the deficient enzymatic transaction. A deficiency of the enzyme 3,/-hydroxysteroid dehydrogenase represents a third basis for the dis-* This work has been supported by Grants A-619 (C7) and 2A-5197 (C2) from the National Institute of Arthritis and Metabolic Diseases, U. S. Public Health Service.1 The following abbreviations have been employed for the steroids under discussion: dehydroepiandrosterone= 3,B-hydroxy-A5-androstene-17-one; androsterone = 3a-hydroxyandrostane-17-one; etiocholanolone = 3a-hydroxyetiocholane-17-one; pregnanetriol = pregnane-3a,17a,20a-triol; 11-ketopregnanetriol = 3a,17a,20a-trihydroxypregnane -11 -one; tetrahydro -E = 3a,17a,21 -trihydroxypregnane-11,20-dione; pregnenetriol = AY-pregnene-3fi,17a,20a-triol; pregnenediolone = 3,8,17a-dihydroxy-A'-pregnene-20-one; pregnenediol = A'-pregnene-3#,20a-diol; pregnenetetrol = ,17a,20,8,8, Six cases of this new form of the disorder are herein reported and compared with five cases due to a deficiency of 21-hydroxylase and five normal subjects. MATERIALS AND METHODSA summary of the clinical data on six cases of the adrenogenital syndrome due to a deficiency of 3#-hydroxysteroid dehydrogenase (I-VI), five due to a deficiency of 21-hydroxylase (VII-XI), and five normal individuals (XII-XVI) is presented in Table I. The post-mortem findings in four (I, III, IV, and V) were consistent with those of adrenocortical hyperplasia. The sex of the cases with the adrenal disorders was determined by examination of the sex chromatin in cells from the buccal mucosa, examination of the internal ducts by X ray, and histologic examination of the gonads in Case VI and in those who succumbed. Cases III and IV were known to have one prior affected sibling who died and showed bilateral adrenal hyperplasia at autopsy.Urine specimens were frozen immediately upon the completion of the 24-hour collection and stored at -100 C until analysis. The urinary steroidal compounds were first hydrolyzed with beta glucuronidase (Ketodase, War...

Patients with inflammatory bowel disease (IBD) manifest growth failure which may antecede abdominal symptoms by some years. Eight of ten children with documented IBD had records of decreasing growth velocities. Investigation of growth hormone reserves showed excessive rather than impaired responses. Mean basal GH level was 6.2 +/- 0.75 (SEM) ng/ml. During sleep, the mean GH level rose to 26.0 +/- 4.7 ng/ml and following propranolol-glucagon stimulation, to 46.0 +/- 4.5 ng/ml. All values were significantly higher than levels obtained in a control population of 25 children investigated for short stature who were not GH deficient. The mean peak GH response following insulin in the IBD group (10.8 +/- 3.8 ng/ml), however, did not differ from the mean peak response in the control group (13.5 +/- 3.3 ng/ml). Growth failure in patients with IBD is not the result of GH deficiency and is not an irreversible phenomenon. On the contrary, judicious use of glucocorticoids aimed at the control of the disease usually produces compensatory growth acceleration ("catch-up growth").

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