Male pseudohermaphroditism due to 5?-reductase deficiency in a Swedish family
Abstract
Three sibs with an inherited form of male pseudohermaphroditism are described. They were all born with ambiguous external genitalia but no diagnosis of a possible enzyme defect was made during childhood. First seen at the ages of 16, 14 and 10 years respectively, they were investigated in order to establish the pathogenetic nature of the disorder. Serum concentrations of testosterone and dihydrotestosterone before and after stimulation with human chorionic gonadotropin suggested 5 alpha-reductase deficiency. Measurement of steroid metabolites in urine confirmed this diagnosis. It is essential to recognize this condition in order to decide the sex of rearing of the children.
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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 [30]
Cites
Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism
Imperato-McGinley, J., Guerrero, L., Gautier, T., & Peterson, R. E. (1974) · Science · doi:10.1126/science.186.4170.1213 · Cited by 1,258 · see citing works
Familial Incomplete Male Pseudohermaphroditism, Type 2
Walsh, P. C., Madden, J. D., Harrod, M. J., Goldstein, J. L., MacDonald, P. C., & Wilson, J. D. (1974) · New England Journal of Medicine · doi:10.1056/nejm197410312911806 · Cited by 619 · see citing works
Male pseudohermaphroditism due to steroid 5α-reductase deficiency
Peterson, R. E., Imperato‐McGinley, J., Gautier, T., & Sturla, E. (1977) · The American Journal of Medicine · doi:10.1016/0002-9343(77)90313-8 · Cited by 392 · see citing works
Shackleton, C. H. L., & Whitney, J. O. (1980) · Clinica Chimica Acta · doi:10.1016/0009-8981(80)90451-9 · Cited by 252 · see citing works
Shackleton, C. H. L., & Honour, J. W. (1976) · Clinica Chimica Acta · doi:10.1016/0009-8981(76)90505-2 · Cited by 164 · see citing works
Radioimmunoassay and Related Techniques.
Kamal, S. (1978) · Annals of Internal Medicine · doi:10.7326/0003-4819-89-6-1015 · Cited by 115 · see citing works
Rösler, A., & Kohn, G. (1983) · Journal of Steroid Biochemistry · doi:10.1016/0022-4731(83)90233-9 · Cited by 98 · see citing works
Givens, J. R., Wiser, W. L., Summitt, R. L., Kerber, I. J., Andersen, R. N., Pittaway, D. E., & Fish, S. A. (1974) · New England Journal of Medicine · doi:10.1056/nejm197410312911805 · Cited by 75 · see citing works
Pseudovaginal perineoscrotal hypospadias
Opitz, J. M., Simpson, J. L., Sarto, G. E., Summitt, R. L., New, M., & German, J. (1972) · Clinical Genetics · doi:10.1111/j.1399-0004.1972.tb01721.x · Cited by 71 · see citing works
Imperato‐McGinley, J., Peterson, R. E., Gautier, T., Arthur, A. B., & Shackleton, C. H. L. (1985) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-60-3-553 · Cited by 43 · see citing works
Peterson, R. E., Imperato‐McGinley, J., Gautier, T., & Shackleton, C. H. L. (1985) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1985.tb00181.x · Cited by 39 · see citing works
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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
- Authors
- Ivarsson, S. A., Nielsen, M. D., & Lindberg, T.
- Affiliations
- Helsingborgs lasarett (SE)
- Venue
- European Journal of Pediatrics
- Published
- 1988-06
- Volume
- 147
- Issue
- 5
- Pages
- 532-535
- ISSN
- 0340-6199 (ISSN-L)
- 1432-1076
- OpenAlex
- W2066883510
- Cited by
- 28
- References
- 11
- Citations by year
- 2024: 1 · 2021: 1 · 2020: 1 · 2016: 1 · 2014: 1 · 2013: 1
- FWCI
- 0.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Pediatrics (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
- 5-alpha-reductase deficiency, 46,XY disorders of sex development, ambiguous genitalia, congenital adrenal hyperplasia, dihydrotestosterone, testosterone, human chorionic gonadotropin stimulation, genetic disorders, familial case, sex of rearing
- MeSH terms
- Adolescent, Child, Humans, Male, Oxidoreductases, Disorders of Sex Development, Sweden, Cholestenone 5 alpha-Reductase
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