Journal of Clinical Endocrinology & Metabolism, Vol 47, 653-664, Copyright © 1978 by Endocrine Society

ARTICLES

Clinical, endocrinological, and enzymatic characterization of two patients with 5 alpha-reductase deficiency: evidence that a single enzyme is responsible for the 5 alpha-reduction of cortisol and testosterone

LK Fisher, MD Kogut, RJ Moore, U Goebelsmann, JJ Weitzman, H Isaacs Jr, JE Griffin and JD Wilson

Two siblings with 46,XY male pseudohermapthroditism were demonstrated to have the phenotype characteristic of 5 alpha-reductase deficiency, namely normal testes and male Wolffian duct derivatives (epididymis, vas deferens, and seminal vesicle) terminating in a blind-ending vagina. Clitoromegaly was present at birth and increased further at the time of expected puberty. The diagnosis of 5 alpha-reductase deficiency was confirmed by demonstration of male levels of testosterone and testosterone precursors before and after hCG administration, elevated plasma testosterone to dihydrotestosterone and urinary etiocholanolone to androsterone ratios, and by in vitro studies indicating 5 alpha- reductase enzyme deficiency in the epididymis of one patient. Studies of control and mutant epididymal microsomes indicated that a single enzyme is responsible in the normal person for the 5 alpha-reduction of testosterone and cortisol (and probably other delta 4-3-ketosteroids as well) and that 5 alpha-reductase activity is undetectable for all substrates examined in the mutant. This finding explains why the formation of 5 alpha-reduced glucocorticoids is also defective in the disorder.

This article has been cited by other articles:

				G. Sasaki, T. Ogata, T. Ishii, K. Kosaki, S. Sato, K. Homma, T. Takahashi, T. Hasegawa, and N. Matsuo Micropenis and the 5{alpha}-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients J. Clin. Endocrinol. Metab., July 1, 2003; 88(7): 3431 - 3436. [Abstract] [Full Text] [PDF]

				J. Compston Local Biosynthesis of Sex Steroids in Bone J. Clin. Endocrinol. Metab., December 1, 2002; 87(12): 5398 - 5400. [Full Text] [PDF]

				B. A. Foster and G. R. Cunha Efficacy of Various Natural and Synthetic Androgens to Induce Ductal Branching Morphogenesis in the Developing Anterior Rat Prostate Endocrinology, January 1, 1999; 140(1): 318 - 328. [Abstract] [Full Text]

				B. Stoffel-Wagner, M. Watzka, S. Steckelbroeck, L. Wickert, J. Schramm, G. Romalo, D. Klingmüller, and H.-U. Schweikert Expression of 5{alpha}-Reductase in the Human Temporal Lobe of Children and Adults J. Clin. Endocrinol. Metab., October 1, 1998; 83(10): 3636 - 3642. [Abstract] [Full Text]

				R. Rubin, J. Reinisch, and R. Haskett Postnatal gonadal steroid effects on human behavior Science, March 20, 1981; 211(4488): 1318 - 1324. [Abstract] [PDF]