TY - JOUR
T1 - Steroid 5α-reductase deficiency in a 65-year-old male pseudohermaphrodite
T2 - The natural history, ultrastructure of the testes, and evidence for inherited enzyme heterogeneity
AU - Imperato-McGinley, J.
AU - Peterson, R. E.
AU - Leshin, M.
AU - Griffin III, Jim
AU - Cooper, G.
AU - Draghi, S.
AU - Berenyi, M.
AU - Wilson, J. D.
PY - 1980/1
Y1 - 1980/1
N2 - We report a 65-yr-old male pseudohermaphrodite with steroid 5a-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 5a-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.
AB - We report a 65-yr-old male pseudohermaphrodite with steroid 5a-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 5a-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.
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U2 - 10.1210/jcem-50-1-15
DO - 10.1210/jcem-50-1-15
M3 - Article
C2 - 7350177
AN - SCOPUS:0018903607
SN - 0021-972X
VL - 50
SP - 15
EP - 22
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
IS - 1
ER -