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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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Metadata
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- 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.
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 ›
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