The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Familial Incomplete Male Pseudohermaphroditism, Type 2: Decreased Dihydrotestosterone Formation in Pseudovaginal Perineoscrotal Hypospadias
Abstract
Two 46 XY siblings with familial incomplete male pseudohermaphroditism, Type 2, inherited as an apparent autosomal recessive trait, were investigated. The phenotype was distinctive in that male wolffian-duct structures (epididymis, vas deferens and seminal vesicles) were present whereas tissues derived from the urogenital sinus and from the anlage of the external genitalia were female in character. Studies of estrogen and androgen dynamics revealed normal male blood testosterone and estrogen levels, production rates and interconversions. The normal blood luteinizing hormone level and normal estrogen production rate suggest that androgen resistance in this syndrome is different from that in other androgen-resistant states. The demonstration of markedly deficient dihydrotestosterone formation in slices of perineal skin, epididymis and phallus, considered with the fact that dihydrotestosterone is the fetal hormone responsible for male differentiation of the external genitalia, is compatible with the possibility that the fundamental lesion is defective formation of dihydrotestosterone in these genital tissues. (N Engl J Med 291:944–949, 1974)
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THE PREPARATION OF 131I-LABELLED HUMAN GROWTH HORMONE OF HIGH SPECIFIC RADIOACTIVITY
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Kappy, M. S., Blizzard, R. M., Migeon, C. J., & Wilkins, L. (1994) · Medical Entomology and Zoology · Cited by 898
The syndrome of testicular feminization in male pseudohermaphrodites
Morris, J. M. (1953) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(53)90359-7 · Cited by 614
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 593
Self-citation17-Hydroxylation deficiency in man
Biglieri, E. G., Herron, M. A., & Brust, N. (1966) · Journal of Clinical Investigation · doi:10.1172/jci105499 · Cited by 561
Hormonal factors in the sex differentiation of the mammalian foetus
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The adrenogenital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase
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Male pseudohermaphroditism due to 17α-hydroxylase deficiency
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Epidemiology of Prostate Cancer
Rawla, P. (2019) · World Journal of Oncology · doi:10.14740/wjon1191 · Cited by 2,776
Androgen Receptor Defects: Historical, Clinical, and Molecular Perspectives*
QUIGLEY, C. A., BELLIS, A. D., MARSCHKE, K. B., EL-AWADY, M. K., WILSON, E. M., & FRENCH, F. S. (1995) · Endocrine Reviews · doi:10.1210/edrv-16-3-271 · Cited by 1,447
Molecular biology of steroid hormone synthesis
MILLER, W. L. (1988) · Endocrine Reviews · doi:10.1210/edrv-9-3-295 · Cited by 1,397
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
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
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Metadata
- Authors
- Walsh, P. C., Madden, J. D., Harrod, M. J., Goldstein, J. L., MacDonald, P. C., & Wilson, J. D.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1974-10-31
- Volume
- 291
- Issue
- 18
- Pages
- 944-949
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2317511325
- Cited by
- 631
- References
- 35
- FWCI
- 9.58
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Familial Incomplete Male Pseudohermaphroditism, Type 2: Decreased Dihydrotestosterone Formation in Pseudovaginal Perineoscrotal Hypospadias. https://app.cochat.ai/papers/10.1056/nejm197410312911806
- The paper
- Walsh, P. C., Madden, J. D., Harrod, M. J., Goldstein, J. L., MacDonald, P. C., & Wilson, J. D. (1974). Familial Incomplete Male Pseudohermaphroditism, Type 2: Decreased Dihydrotestosterone Formation in Pseudovaginal Perineoscrotal Hypospadias. New England Journal of Medicine. https://doi.org/10.1056/nejm197410312911806
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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