Deficient 17-Hydroxylation in a Corticosterone Producing Adrenal Tumor from an Infant with Hemihypertrophy and Visceromegaly1

Abstract

A unique biosynthetic defect of steroid hydroxylation has been demonstrated in vitro in an adrenal tumor of a 9-month-old female with hemihypertrophy and visceromegaly. This defect was manifested by increased production of corticosterone with limited synthesis of 17- hydroxylated products. Tissue concentrations and in vitro production rates of cortisol, 11- deoxycortisol, corticosterone, deoxycorticosterone and aldosterone were measured by double isotope derivative dilution technique in tumor tissue and compared with normal adrenal tissue. Incubations of tumor tissue with appropriate steroid precursors consistently produced an excess of corticosterone and deoxycorticosterone, while similar measurements performed on normal tissue resulted mainly in the production of cortisol and 11-deoxycortisol. With the addition of 17-hydroxylated steroid precursors to tumor tissue, cortisol and 11-deoxycortisol production became comparable to normal adrenal tissue. Assays of plasma corticosterone and cortisol obtained in the patient described herein were compared to levels in normal infants (9 months to 2 yr of age). While the cortisol levels were similar in both, elevated levels of plasma corticosterone were demonstrated in the patient. In vivo data were thus obtained which clearly reflected the in vitro findings of deficient 17-hydroxylation.