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17-Hydroxylation deficiency in man
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“The initial description of 17␣-hydroxylase deficiency was a case in which both 17␣-hydroxylase and 17,20lyase products were absent (261).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [261]
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“As a result, affected females are phenotypically normal but fail to undergo adrenarche and puberty (261),”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [261]
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“The classical presentation is that of a teenage female with sexual infantilism and hypertension (261,264).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [261]
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Miller, W. L. (2009) · Wiley eBooks · doi:10.1002/9781444316728.ch13 · Cited by 51
Kagimoto, K., Waterman, M. R., Kagimoto, M., Ferreira, P. C., Simpson, E. R., & Winter, J. S. D. (1989) · Human Genetics · doi:10.1007/bf00291172 · Cited by 50
Yanase, T., Waterman, M. R., Zachmann, M., Winter, J. S. D., Simpson, E. R., & Kagimoto, M. (1992) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(92)90100-2 · Cited by 50
Metadata
- Authors
- Biglieri, E. G., Herron, M. A., & Brust, N.
- Affiliations
- San Francisco General Hospital (US)
- Venue
- Journal of Clinical Investigation
- Published
- 1966-12-01
- Volume
- 45
- Issue
- 12
- Pages
- 1946-1954
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC292880
- OpenAlex
- W2025408018
- Semantic Scholar
- 4321404e8c055df66091f50f82aa9945d6208f8d
- Cited by
- 561
- References
- 38
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 5 · 2023: 16 · 2022: 14 · 2021: 6 · 2020: 7 · 2019: 9 · 2018: 5 · 2017: 12 · 2016: 7 · 2015: 15 · 2014: 13 · 2013: 14 · 2012: 10
- FWCI
- 6.02
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Cisco Systems
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, steroidogenesis, adrenal cortex, 17-hydroxyprogesterone
- MeSH terms
- Adrenal Glands, Adrenocorticotropic Hormone, Adult, Corticosterone, Desoxycorticosterone, Diet, Sodium-Restricted, Female, Humans, Mixed Function Oxygenases, Hydroxyprogesterones, Metabolism, Inborn Errors, Metyrapone, Natriuresis, Potassium, Progesterone
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.
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