Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism
Abstract
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 5 α-reductase activity. In utero the decrease in dihydrotestosterone results in incomplete masculinization of the external genitalia. Inheritance is autosomal recessive.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Testosterone and dihydrotestosterone likely have differential roles and expression in various tissues, including prostate, skin, penis, and testicles.
“T and DHT also likely have differential roles and expression in various tissues, including in the prostate, skin, penis, and testicles, among others.”
From Challenges in Testosterone Measurement, Data Interpretation, and Methodological Appraisal of Interventional Trials (2016) · cites this paper as [28]
Androgens, and in particular intraprostatic conversion of circulating T to DHT by SRD5A2, are required for normal prostate development and function.
“Androgens and in particular the intraprostatic conversion of circulating T to DHT by SRD5A2 (Russell and Wilson, 1994) are required for normal prostate development and function (Andersson et al., 1991, Imperato-McGinley et al., 1974).”
From Intracrine androgen biosynthesis, metabolism and action revisited (2018) · cites this paper as Imperato-McGinley et al., 1974
Cites
PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT
Lowry, O. H., Rosebrough, N., Farr, A. L., & Randall, R. (1951) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)52451-6 · Cited by 315,771 · see citing works
Testosterone Formation and Metabolism During Male Sexual Differentiation in the Human Embryo
Siiteri, P. K., & Wilson, J. D. (1974) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-38-1-113 · Cited by 598 · see citing works
Baum, M. J., & Vreeburg, J. T. M. (1973) · Science · doi:10.1126/science.182.4109.283 · Cited by 289 · see citing works
The Intranuclear Metabolism of Testosterone in the Accessory Organs of Reproduction
Wilson, J. D., & Gloyna, R. E. (1970) · Elsevier eBooks · doi:10.1016/b978-0-12-571126-5.50012-1 · Cited by 249 · see citing works
GANDY, H. M., & Peterson, R. E. (1968) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-28-7-949 · Cited by 168 · see citing works
Self-citationThe Source of Plasma Dihydrotestosterone in Man
Ito, T., & Horton, R. (1971) · Journal of Clinical Investigation · doi:10.1172/jci106650 · Cited by 166 · see citing works
Testosterone Cytosol “Receptor” in the Rat Levator Ani Muscle
Jung, I., & Baulieu, É.-É. (1972) · Nature New Biology · doi:10.1038/newbio237024a0 · Cited by 142 · see citing works
MAHOUDEAU, J. A., Bardin, C. W., & Lipsett, M. B. (1971) · Journal of Clinical Investigation · doi:10.1172/jci106613 · Cited by 123 · see citing works
Josso, N. (1973) · Endocrinology · doi:10.1210/endo-93-4-829 · Cited by 102 · see citing works
Steroid Pathways in Sebaceous Glands
Sansone-Bazzano, G., & Reisner, R. M. (1974) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12676785 · Cited by 24 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Molecular biology of steroid hormone synthesis
MILLER, W. L. (1988) · Endocrine Reviews · doi:10.1210/edrv-9-3-295 · Cited by 1,397 · see citing works
Validating therapeutic targets through human genetics
Plenge, R. M., Scolnick, E. M., & Altshuler, D. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4051 · Cited by 712 · see citing works
Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression.
Thigpen, A. E., Silver, R. I., Guileyardo, J. M., Casey, M. L., McConnell, J. D., & Russell, D. W. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116665 · Cited by 727 · see citing works
The Androgen Axis in Recurrent Prostate Cancer
Mohler, J. L., Gregory, C. W., Ford, O. H., Kim, D., Weaver, C. M., Petrusz, P., Wilson, E. M., & French, F. S. (2004) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-1146-03 · Cited by 675 · see citing works
The hormonal-control of sexual development
Wilson, J. D., George, F. W., & Griffin, J. E. (1981) · Science · doi:10.1126/science.7010602 · Cited by 451 · see citing works
Molecular genetics of steroid 5 alpha-reductase 2 deficiency
Thigpen, A. E., Davis, D. L., Milatovich, A., Mendonca, B. B., Imperato-McGinley, J., Griffin, J. E., Francke, U., Wilson, J. D., & Russell, D. W. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115954 · Cited by 422 · see citing works
Self-citationAdvancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Szustakowski, J. D., Balasubramanian, S., Kvikstad, E., Khalid, S., Bronson, P. G., Sasson, A., Wong, E., Liu, D., Wade Davis, J., Haefliger, C., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00885-0 · Cited by 401 · see citing works
Intracrine androgen biosynthesis, metabolism and action revisited
Schiffer, L., Arlt, W., & Storbeck, K.-H. (2018) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.08.016 · Cited by 217 · see citing works
Bhasin, S., Travison, T. G., Storer, T. W., Lakshman, K., Kaushik, M., Mazer, N. A., Ngyuen, A.-H., Davda, M. N., Jara, H., Aakil, A., et al. (2012) · JAMA · doi:10.1001/jama.2012.227 · Cited by 152 · see citing works
Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency
Katz, M. D., Kligman, I., Cai, L.-Q., Zhu, Y.-S., Fratianni, C. M., Zervoudakis, I., Rosenwaks, Z., & Imperato-McGinley, J. (1997) · New England Journal of Medicine · doi:10.1056/nejm199704033361404 · Cited by 131 · see citing works
Self-citationSteroid biosynthesis and prostate cancer
Sharifi, N., & Auchus, R. J. (2012) · Steroids · doi:10.1016/j.steroids.2012.03.015 · Cited by 116 · see citing works
Adrenal Androgens and Androgen Precursors-Definition, Synthesis, Regulation and Physiologic Actions
Turcu, A., Smith, J. M., Auchus, R., & Rainey, W. E. (2014) · Comprehensive physiology · doi:10.1002/cphy.c140006 · Cited by 113 · see citing works
Long-term 6-year experience with finasteride in patients with benign prostatic hyperplasia
Lowe, F. C., McConnell, J. D., Hudson, P. B., Romas, N. A., Boake, R., Lieber, M., Elhilali, M., Geller, J., Imperto-McGinely, J., Andriole, G. L., et al. (2003) · Urology · doi:10.1016/s0090-4295(02)02548-7 · Cited by 107 · see citing works
Moore, R. J., & Wilson, J. D. (1976) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)33036-3 · Cited by 99 · see citing works
5α-Reductase isozymes in the central nervous system
Poletti, A., Coscarella, A., Negri-Cesi, P., Colciago, A., Celotti, F., & Martini, L. (1998) · Steroids · doi:10.1016/s0039-128x(98)00018-x · Cited by 100 · see citing works
Trost, L. W., & Mulhall, J. P. (2016) · The Journal of Sexual Medicine · doi:10.1016/j.jsxm.2016.04.068 · Cited by 98 · see citing works
CASEY, M. L., & MacDONALD, P. C. (1982) · Endocrine Reviews · doi:10.1210/edrv-3-4-396 · Cited by 82 · see citing works
Asada, Y., Sonoda, T., Ojiro, M., Kurata, S., Sato, T., Ezaki, T., & Takayasu, S. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.6.7545 · Cited by 72 · see citing works
Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis
Shackleton, C. H. L. (2012) · Lipids · doi:10.1007/s11745-011-3605-6 · Cited by 61 · see citing works
Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish village
Akgun, S., Ertel, N. H., Imperato-Mcginley, J., Sayli, B. S., & Shackleton, C. (1986) · The American Journal of Medicine · doi:10.1016/0002-9343(86)90262-7 · Cited by 57 · see citing works
Self-citation5α-Reductases in human physiology: an unfolding story
Traish, A. M. (2012) · Endocrine Practice · doi:10.4158/ep12108.ra · Cited by 57 · see citing works
Cations Inhibit Specifically Type I 5α-Reductase Found in Human Skin
Sugimoto, Y., López-Solache, I., Labrie, F., & Luu-The, V. A. N. (1995) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12606985 · Cited by 53 · see citing works
Fetal hormones and sexual differentiation
Sobel, V., Zhu, Y.-S., & Imperato-McGinley, J. (2004) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/j.ogc.2004.08.005 · Cited by 44 · see citing works
Self-citationBramble, M. S., Lipson, A., Vashist, N., & Vilain, E. (2017) · Journal of Neuroscience Research · doi:10.1002/jnr.23832 · Cited by 42 · see citing works
Age-specific changes in sex steroid biosynthesis and sex development
Krone, N., Hanley, N. A., & Arlt, W. (2007) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2007.06.001 · Cited by 36 · see citing works
Mechanism of action of androgen in hair follicles
Itami, S., Sonoda, T., Kurata, S., & Takayasu, S. (1994) · Journal of Dermatological Science · doi:10.1016/0923-1811(94)90040-x · Cited by 30 · see citing works
Male pseudohermaphroditism due to 5?-reductase deficiency in a Swedish family
Ivarsson, S. A., Nielsen, M. D., & Lindberg, T. (1988) · European Journal of Pediatrics · doi:10.1007/bf00441984 · Cited by 28 · see citing works
- Authors
- Imperato-McGinley, J., Guerrero, L., Gautier, T., & Peterson, R. E.
- Affiliations
- Department of Medicine, Division of Endocrinology, Cornell University Medical College, New York 10021
- Cornell University (US)
- Universidad Nacional Pedro Henriquez Urena, Department of Pediatrics, Santo Domingo, Dominican Republic
- Venue
- Science
- Published
- 1974-12-27
- Volume
- 186
- Issue
- 4170
- Pages
- 1213-1215
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1992103956
- Cited by
- 1,258
- References
- 10
- Citations by year
- 2026: 10 · 2025: 16 · 2024: 14 · 2023: 32 · 2022: 22 · 2021: 17 · 2020: 22 · 2019: 22 · 2018: 20 · 2017: 21 · 2016: 19 · 2015: 15 · 2014: 23 · 2013: 27 · 2012: 29
- FWCI
- 8.64
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Urology › Urological Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- 46,XY disorders of sex development, ambiguous genitalia, dihydrotestosterone, autosomal recessive inheritance
- MeSH terms
- Androsterone, Dominican Republic, Etiocholanolone, Humans, Male, Oxidoreductases, Pedigree, Phenotype, Puberty, Disorders of Sex Development, Dihydrotestosterone, Steroid Hydroxylases, Testosterone, Tritium
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
