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-Reductase Deficiency in a 65-Year-Old Male Pseudohermaphrodite: The Natural History, Ultrastructure of the Testes, and Evidence for Inherited Enzyme Heterogeneity*
,
GEORGE COOPER,
SUZANNE DRAGHI,
MAGDALENA BERENYI and
JEAN D. WILSON
Division of Endocrinology, Departments of Medicine, Obstetrics and Gynecology, and Psychiatry, The New York Hospital-Cornell University Medical College New York, New York, 10021 Eugene McDermott Center for Growth and Development and the Department of Internal Medicine, University of Texas Southwestern Medical School Dallas, Texas 75235
Address requests for reprints to: Julianne Imperato-McGinley, M.D., Department of Medicine, Division of Endocrinology, Cornell University Medical College, New York, New York 10021.
We report a 65-yr-old male pseudohermaphrodite with steroid 5
-reductase deficiency in whom there was no medical intervention before, during, or after puberty, enabling us to observe the natural history of this condition. The affected subject has an android build, with more facial and body hair than in previously described affected adults. Although the subject was raised as a girl, a male gender identity evolved with the events of puberty, but social factors have delayed the complete expression of a male gender role. Plasma levels of dihydrotestosterone and the in vivo conversion of radiolabeled testosterone to dihydrotestosterone were decreased. There was an elevated urinary etiocholanolone to androsterone ratio, typical of the syndrome. Characterization of 5-reductase enzyme activity in cultured genital skin fibroblasts demonstrated a pattern of enzyme activity distinctly different from three previously described families with this condition. There was decreased enzyme affinity for testosterone and NADPH. Also, the stability of the enzyme to elevated temperature was not protected by NADPH, resulting in rapid disappearance of enzyme activity after inhibition of protein synthesis with cycloheximide. Electron microscopic evaluation of the testes was carried out.
* This work was supported by USPHS Career Research Award K6-AM 14241–13 (to R.E.P.), Clinical Investigator Award K08-AM-00615-01 (to J.I.McG.), Clinical Research Center Grant RR-47, Research Grants HD-09421 and AM-03892 from the NIH, and Research Grant 6–52 from the National Foundation.
Recipient of a research fellowship under NIH Training Grant TICA5200.
Received March 6, 1979.
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