Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 27 December 1974:
Vol. 186. no. 4170, pp. 1213 - 1215
DOI: 10.1126/science.186.4170.1213
Prev | Table of Contents | Next

Articles

Steroid 5agr-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism

Julianne Imperato-McGinley 1, Luis Guerrero 2, Teofilo Gautier 3, and Ralph E. Peterson 4

1 Department of Medicine, Division of Endocrinology, Cornell University Medical College, New York 10021
2 Division of Endocrinology, Corncll University Medical College
3 Universidad Nacional Pedro Henriquez Urena, Department of Pediatrics, Santo Domingo, Dominican Republic
4 Division of Endocrinology, Cornell University Medical College

In male pseudohermaphrodites born with ambiguity of the external genitalia but with marked virilization at puberty, biochemical evaluation reveals a marked decrease in plasma dihydrotestosterone secondary to a decrease in steroid 5agr-reductase activity. In utero the decrease in dihydrotestosterone results in incomplete masculinization of the external genitalia. Inheritance is autosomal recessive.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Testosterone induction of prostaglandin-endoperoxide synthase 2 expression and prostaglandin F2{alpha} production in hamster Leydig cells.
M. E Matzkin, S. I Gonzalez-Calvar, A. Mayerhofer, R. S Calandra, and M. B Frungieri (2009)
Reproduction 138, 163-175
   Abstract »    Full Text »    PDF »
Chemoprevention of Prostate Cancer.
O. W. Brawley, S. Lucia, and G. Andriole (2009)
ASCO Educational Book 2009, 62-64
   Abstract »    Full Text »    PDF »
The Effect of 5 {alpha}-Reductase Inhibitors on Erectile Function.
O. Canguven and A. L. Burnett (2008)
J Androl 29, 514-523
   Abstract »    Full Text »    PDF »
Modulation of Androgen Receptor Activation Function 2 by Testosterone and Dihydrotestosterone.
E. B. Askew, R. T. Gampe Jr., T. B. Stanley, J. L. Faggart, and E. M. Wilson (2007)
J. Biol. Chem. 282, 25801-25816
   Abstract »    Full Text »    PDF »
Medical treatment of benign prostatic hyperplasia.
S. S Connolly and J. M Fitzpatrick (2007)
Postgrad. Med. J. 83, 73-78
   Abstract »    Full Text »    PDF »
Effect of Testosterone Replacement Therapy on Prostate Tissue in Men With Late-Onset Hypogonadism: A Randomized Controlled Trial..
L. S. Marks, N. A. Mazer, E. Mostaghel, D. L. Hess, F. J. Dorey, J. I. Epstein, R. W. Veltri, D. V. Makarov, A. W. Partin, D. G. Bostwick, et al. (2006)
JAMA 296, 2351-2361
   Abstract »    Full Text »    PDF »
Bone Mineral Density in the Complete Androgen Insensitivity and 5{alpha}-Reductase-2 Deficiency Syndromes.
V. Sobel, B. Schwartz, Y.-S. Zhu, J. J. Cordero, and J. Imperato-McGinley (2006)
J. Clin. Endocrinol. Metab. 91, 3017-3023
   Abstract »    Full Text »    PDF »
Probing the Functional Link between Androgen Receptor Coactivator and Ligand-binding Sites in Prostate Cancer and Androgen Insensitivity.
B. He, R. T. Gampe Jr., A. T. Hnat, J. L. Faggart, J. T. Minges, F. S. French, and E. M. Wilson (2006)
J. Biol. Chem. 281, 6648-6663
   Abstract »    Full Text »    PDF »
Disease Versus Disease: How One Disease May Ameliorate Another.
E. R. Stiehm (2006)
Pediatrics 117, 184-191
   Abstract »    Full Text »    PDF »
Psychological Effect, Pathophysiology, and Management of Androgenetic Alopecia in Men.
D. Stough, K. Stenn, R. Haber, W. M. Parsley, J. E. Vogel, D. A. Whiting, and K. Washenik (2005)
Mayo Clin. Proc. 80, 1316-1322
   Abstract »    PDF »
Marked Suppression of Dihydrotestosterone in Men with Benign Prostatic Hyperplasia by Dutasteride, a Dual 5{alpha}-Reductase Inhibitor.
R. V. Clark, D. J. Hermann, G. R. Cunningham, T. H. Wilson, B. B. Morrill, and S. Hobbs (2004)
J. Clin. Endocrinol. Metab. 89, 2179-2184
   Abstract »    Full Text »    PDF »
Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin.
M. Fernandez-Cancio, M. Nistal, R. Gracia, M. A. Molina, J. A. Tovar, C. Esteban, A. Carrascosa, and L. Audi (2004)
J Androl 25, 412-416
   Abstract »    Full Text »    PDF »
The Androgen Axis in Recurrent Prostate Cancer.
J. L. Mohler, C. W. Gregory, O. H. Ford III, D. Kim, C. M. Weaver, P. Petrusz, E. M. Wilson, and F. S. French (2004)
Clin. Cancer Res. 10, 440-448
   Abstract »    Full Text »    PDF »
Micropenis and the 5{alpha}-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients.
G. Sasaki, T. Ogata, T. Ishii, K. Kosaki, S. Sato, K. Homma, T. Takahashi, T. Hasegawa, and N. Matsuo (2003)
J. Clin. Endocrinol. Metab. 88, 3431-3436
   Abstract »    Full Text »    PDF »
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.
L Frisen, K Lagerstedt, M Tapper-Persson, I Kockum, and A Nordenskjold (2003)
J. Med. Genet. 40, e49-49
   Full Text »    PDF »
Male Contraception.
R. A. Anderson and D. T. Baird (2002)
Endocr. Rev. 23, 735-762
   Abstract »    Full Text »    PDF »
Monogenic Disorders of Puberty.
S. N. Kalantaridou and G. P. Chrousos (2002)
J. Clin. Endocrinol. Metab. 87, 2481-2494
   Full Text »    PDF »
Intakes of energy and macronutrients and the risk of benign prostatic hyperplasia.
S. Suzuki, E. A Platz, I. Kawachi, W. C Willett, and E. Giovannucci (2002)
Am. J. Clinical Nutrition 75, 689-697
   Abstract »    Full Text »    PDF »
Unexpected Virilization in Male Mice Lacking Steroid 5{alpha}-Reductase Enzymes.
M. S. Mahendroo, K. M. Cala, D. L. Hess, and D. W. Russell (2001)
Endocrinology 142, 4652-4662
   Abstract »    Full Text »    PDF »
Update in Dermatology.
R. A. Kazin, N. R. Lowitt, and M. H. Lowitt (2001)
Ann Intern Med 135, 124-132
   Full Text »    PDF »
5{{alpha}}-Reductase Type 2 Is Constitutively Expressed in the Dermal Papilla and Connective Tissue Sheath of the Hair Follicle in Vivo But Not during Culture in Vitro.
Y. Asada, T. Sonoda, M. Ojiro, S. Kurata, T. Sato, T. Ezaki, and S. Takayasu (2001)
J. Clin. Endocrinol. Metab. 86, 2875-2880
   Abstract »    Full Text »    PDF »
Uniparental Disomy in Steroid 5{alpha}-Reductase 2 Deficiency.
B. Chávez, E. Valdez, and F. Vilchis (2000)
J. Clin. Endocrinol. Metab. 85, 3147-3150
   Abstract »    Full Text »
Idiopathic Hirsutism.
R. Azziz, E. Carmina, and M. E. Sawaya (2000)
Endocr. Rev. 21, 347-362
   Abstract »    Full Text »    PDF »
Resveratrol Inhibits the Expression and Function of the Androgen Receptor in LNCaP Prostate Cancer Cells.
S. H. Mitchell, W. Zhu, and C. Y. F. Young (1999)
Cancer Res. 59, 5892-5895
   Abstract »    Full Text »    PDF »
Gender Assignment and Reassignment in 46,XY Pseudohermaphroditism and Related Conditions.
H. F. L. Meyer-Bahlburg (1999)
J. Clin. Endocrinol. Metab. 84, 3455-3458
   Full Text »    PDF »
Treatment of Hair Loss.
V. H. Price (1999)
N. Engl. J. Med. 341, 964-973
   Full Text »    PDF »
Z-350, A Novel Compound with alpha 1-Adrenoceptor Antagonistic and Steroid 5alpha -Reductase Inhibitory Actions: Pharmacological Properties In Vivo.
Y. Fukuta, Y. Fukuda, R. Higashino, K. Yoshida, M. Ogishima, H. Tamaki, and M. Takei (1999)
J. Pharmacol. Exp. Ther. 290, 1013-1018
   Abstract »    Full Text »
Physical Activity and Benign Prostatic Hyperplasia.
E. A. Platz, I. Kawachi, E. B. Rimm, G. A. Colditz, M. J. Stampfer, W. C. Willett, and E. Giovannucci (1998)
Arch Intern Med 158, 2349-2356
   Abstract »    Full Text »    PDF »
Fortnightly review: Male pattern androgenetic alopecia.
R. Sinclair (1998)
BMJ 317, 865-869
   Full Text »
Molecular Characterization of 5{alpha}-Reductase Type 2 Deficiency and Fertility in a Swedish Family.
A. Nordenskjöld and S.-A. Ivarsson (1998)
J. Clin. Endocrinol. Metab. 83, 3236-3238
   Abstract »    Full Text »
A Novel Mutation of the Human Luteinizing Hormone Receptor in 46XY and 46XX Sisters.
S. S. Stavrou, Y.-S. Zhu, L.-Q. Cai, M. D. Katz, C. Herrera, M. DeFillo-Ricart, and J. Imperato-McGinley (1998)
J. Clin. Endocrinol. Metab. 83, 2091-2098
   Abstract »    Full Text »
The Identification of 5{alpha}-Reductase-2 and 17{beta}-Hydroxysteroid Dehydrogenase-3 Gene Defects in Male Pseudohermaphrodites from a Turkish Kindred.
S. Can, Y.-S. Zhu, L.-Q. Cai, Q. Ling, M. D. Katz, S. Akgun, C. H. L. Shackleton, and J. Imperato-McGinley (1998)
J. Clin. Endocrinol. Metab. 83, 560-569
   Abstract »    Full Text »
Regulation of Sexual Dimorphism in Mammals.
C. M. HAQQ and P. K. DONAHOE (1998)
Physiol Rev 78, 1-33
   Abstract »    Full Text »    PDF »
Increased Scalp Skin and Serum 5{alpha}-Reductase Reduced Androgens in a Man Relevant to the Acquired Progressive Kinky Hair Disorder and Developing Androgenetic Alopecia.
P. Boudou and P. Reygagne (1997)
Arch Dermatol 133, 1129-1133
   Abstract »    PDF »
Cloning and characterization of TDD5, an androgen target gene that is differentially repressed by testosterone and dihydrotestosterone.
T.-M. Lin and C. Chang (1997)
PNAS 94, 4988-4993
   Abstract »    Full Text »    PDF »
MK-386, an Inhibitor of 5{alpha}-Reductase Type 1, Reduces Dihydrotestosterone Concentrations in Serum and Sebum without Affecting Dihydrotestosterone Concentrations in Semen.
J. I. Schwartz, W. K. Tanaka, D. Z. Wang, D. L. Ebel, L. A. Geissler, A. Dallob, B. Hafkin, and B. J. Gertz (1997)
J. Clin. Endocrinol. Metab. 82, 1373-1377
   Abstract »    Full Text »    PDF »
Paternity by Intrauterine Insemination with Sperm from a Man with 5{alpha}-Reductase-2 Deficiency.
M. D. Katz, I. Kligman, L.-Q. Cai, Y.-S. Zhu, C. M. Fratianni, I. Zervoudakis, Z. Rosenwaks, and J. Imperato-McGinley (1997)
N. Engl. J. Med. 336, 994-998
   Full Text »    PDF »
Androgen Metabolism in the Prostate of the Finasteride-Treated, Adult Rat: A Possible Explanation for the Differential Action of Testosterone and 5{alpha}-Dihydrotestosterone during Development of the Male Urogenital Tract.
F. W. George (1997)
Endocrinology 138, 871-877
   Abstract »    Full Text »    PDF »
Inhibition of Hair Growth by Testosterone in the Presence of Dermal Papilla Cells from the Frontal Bald Scalp of the Postpubertal Stumptailed Macaque.
N. Obana, C. Chang, and H. Uno (1997)
Endocrinology 138, 356-361
   Abstract »    Full Text »    PDF »
Androgens and Therapeutic Aspects of Antiandrogens in Women.
E. Diamanti-Kandarakis, G. Tolis, and A. J. Duleba (1995)
Reproductive Sciences 2, 577-592
   Abstract »    PDF »
Benign Prostatic Hyperplasia -- Medical and Minimally Invasive Treatment Options.
J. E. Oesterling (1995)
N. Engl. J. Med. 332, 99-110
   Full Text »    PDF »
Human Sexual Orientation: The Biologic Theories Reappraised.
W. Byne and B. Parsons (1993)
Arch Gen Psychiatry 50, 228-239
   Abstract »    PDF »
The Effects of Long-Term Sustained Delivery of Dihydrotestosterone by Poly(lactic acid) Impregnated and Noncoated Biodegradable Ceramic Devices in Male Rodents.
H. A. Benghuzzi, B. G. England, and P. K. Bajpai (1991)
Journal of Bioactive and Compatible Polymers 6, 115-128
   Abstract »    PDF »
Testosterone Replacement With Transdermal Therapeutic Systems: Physiological Serum Testosterone and Elevated Dihydrotestosterone Levels.
G. R. Cunningham, E. Cordero, and J. I. Thornby (1989)
JAMA 261, 2525-2530
   Abstract »    PDF »
Transsexualism and the Limits of Traditional Analysis.
A. BOLIN (1987)
American Behavioral Scientist 31, 41-65
The Theory of Gender Identity Disorders.
J. K. MEYER (1982)
J Am Psychoanal Assoc 30, 381-418
   Abstract »    PDF »
The hormonal control of sexual development.
J. Wilson, F. George, and J. Griffin (1981)
Science 211, 1278-1284
   PDF »
Testosterone: a major determinant of extragenital sexual dimorphism.
C. Bardin and J. Catterall (1981)
Science 211, 1285-1294
   Abstract »
Effects of prenatal sex hormones on gender-related behavior.
A. Ehrhardt and H. Meyer-Bahlburg (1981)
Science 211, 1312-1318
   Abstract »    PDF »
Postnatal gonadal steroid effects on human behavior.
R. Rubin, J. Reinisch, and R. Haskett (1981)
Science 211, 1318-1324
   Abstract »    PDF »
Phenotypic Variation in a Family With Partial Androgen Insensitivity Syndrome.
M. Maes, P. A. Lee, R. D. Jeffs, C. Sultan, and C. J. Migeon (1980)
Arch Pediatr Adolesc Med 134, 470-473
   Abstract »    PDF »
Testosterone Metabolism in the Skin: A Review of Its Function in Androgenetic Alopecia, Acne Vulgaris, and Idiopathic Hirsutism Including Recent Studies With Antiandrogens.
V. H. Price (1975)
Arch Dermatol 111, 1496-1502
   Abstract »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)