Journal of Clinical Endocrinology & Metabolism, Vol 53, 85-90, Copyright © 1981 by Endocrine Society

ARTICLES

Cortisol production by testicular tumors in a patient with congenital adrenal hyperplasia (21-hydroxylase deficiency)

R Franco-Saenz, I Antonipillai, SY Tan, M McCorquodale, K Kropp and PJ Mulrow

Bilateral testicular tumors are known to occur in congenital adrenal hyperplasia, but their steroidogenic properties are not well studied. We have recently demonstrated steroid 11 beta-hydroxylase activity in these tumors from a 27-yr-old patient with documented salt-losing congenital hyperplasia (21-hydroxylase deficiency). Spermatic venous blood obtained at operation contained 3.6-5 ng/ml cortisol, as measured by specific RIA after Sephadex LH-20 chromatography. In contrast, the peripheral venous cortisol level was 0.64 ng/ml. The presence of 11 beta-hydroxylase activity was demonstrated by the in vitro conversion of [3H]deoxycorticosterone to [3H]corticosterone in tumor tissue. The conversion ratio of deoxycorticosterone to corticosterone was 4.3% and 7.07%/mg tissue in the tumor tissue, whereas in normal testicular tissue, it was less than 1%. The radiochemical identity of corticosterone was confirmed by rechromatography on Sephadex LH-20, coelution with added [14C]corticosterone, and a constant 3H to 14C ratio after acetylation and thin layer chromatography. The tumor cells grown in primary culture produced steroids and responded to ACTH and hCG. Electron microscopy of the tumor revealed a large number of mitochondria containing electron dense granules. Light microscopy was compatible with Leydig cell tumor. In conclusion, testicular tumors in association with congenital adrenal hyperplasia have morphological features of Leydig cells but have the capability of 11 beta- hydroxylation and cortisol production, properties which are unique to adrenocortical tissue. These findings suggest that they originate from pluripotential cells in the testicles. Regression of these tumors has been reported with optimal biochemical control of the disease.

This article has been cited by other articles:

				Y. O. Tanaka, H. Tsunoda, Y. Kitagawa, T. Ueno, H. Yoshikawa, and Y. Saida Functioning Ovarian Tumors: Direct and Indirect Findings at MR Imaging RadioGraphics, October 1, 2004; 24(suppl_1): S147 - S166. [Abstract] [Full Text] [PDF]

				D. P. Merke, S. R. Bornstein, N. A. Avila, and G. P. Chrousos Future Directions in the Study and Management of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Ann Intern Med, February 19, 2002; 136(4): 320 - 334. [Abstract] [Full Text] [PDF]

				N. M. M. L. Stikkelbroeck, B. J. Otten, A. Pasic, G. J. Jager, C. G. J. F. Sweep, K. Noordam, and A. R. M. M. Hermus High Prevalence of Testicular Adrenal Rest Tumors, Impaired Spermatogenesis, and Leydig Cell Failure in Adolescent and Adult Males with Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., December 1, 2001; 86(12): 5721 - 5728. [Abstract] [Full Text] [PDF]

				M. S. Cabrera, M. G. Vogiatzi, and M. I. New Long Term Outcome in Adult Males with Classic Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., July 1, 2001; 86(7): 3070 - 3078. [Abstract] [Full Text] [PDF]