Adrenocortical hyperplasia: report of a case with studies of the excretion of steroid metabolites.

Abstract

SUMMARY 1. Clinical details are given of a case of adrenocortical hyperplasia causing macrogenitosomia praecox in a boy aged eight. 2. Urinary steroids were investigated using 'group' methods of analysis and also chromatographic procedures for the estimation of individual steroids. 3. Patterns of excretion in the untreated patient, under exogenous adrenocorticotrophic hormone (ACTH) treatment and with oral cortisone and prednisone, were obtained. Following the intramuscular injection of ACTH, there was a fall rather than an increase in the plasma cortisone and cortisol levels, and no increase in the urinary excretion of 17-ketosteroids (17-KS), 17-ketogenic steroids (17-KGS), pregnanetriol (P'triol), pregnanediol (P'diol) and oestrogens. The only urinary steroid which was excreted in significantly greater amounts was dehydroepiandrosterone. Oral cortisone and prednisone caused marked falls in the output of 17-KS, P'triol and P'diol. 4. The urine of the patient contained increased amounts of certain normally occurring steroids as well as others which are not usually found. There was a high content of total neutral 17-KS, 17-KGS, P'triol, P'diol and oestrogens. Analysis of individual steroids showed the presence of 17α-hydroxypregnanolone and 11-oxo-pregnanetriol which are not normally found in urine by methods in current use. 11-Hydroxyandrosterone and aetiocholanolone were present in increased amounts. The ratio of 11-oxygenated 17-KS to total 17-KS was abnormally high. On the other hand, the urinary excretion of cortisone and cortisol, and of their metabolic products tetrahydrocortisone and tetrahydrocortisol, was not increased. These changes can largely be explained by current concepts of the abnormal steroidogenesis in this disorder.