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Cited by 566Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

17-Hydroxylation deficiency in man

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Biglieri, E G, Herron, M A, Brust, N·1966·Journal of Clinical Investigation
DOI 10.1172/jci105499PMC PMC292880
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Crossref · 10.1172/jci105499

Cites

37 of 37 references verified0 citation errors · 0 not checkable

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  • The initial description of 17α-hydroxylase deficiency was a case in which both 17α-hydroxylase and 17,20-lyase products were absent.

    “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]

    The Results report that no C-21 steroids derived from 17α-OH-progesterone were detected, supporting the absence of 17α-hydroxylase products in the reported case. But the Results and Discussion (indexed under “Miscellaneous measurements”; page unavailable) report low, measurable C-19 steroids, including testosterone and androstenedione, rather than an absence of 17,20-lyase products. (LLM, conf=0.87)

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  • Affected females with complete P450c17 deficiency are phenotypically normal but fail to undergo adrenarche and puberty.

    “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]

    The Case report (page unavailable) says the patient had not menstruated or developed secondary sex characteristics, and the examination reports absent axillary and pubic hair. These findings support failure of puberty and adrenarche. The paper describes a marked deficiency in one patient, however, and does not establish that females with complete deficiency are phenotypically normal. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • The classical presentation of 17α-hydroxylase deficiency is a teenage female with sexual infantilism and hypertension.

    “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]

    The Case report (page unavailable) describes a female patient who lacked menses and secondary sex characteristics at 17, and the clinical history records hypertension during her school years. But the paper reports one patient examined at 35; it does not establish that a teenage female is the classical presentation of the condition. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

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Cites

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1 of the 38 references couldn’t be matched to a known paper.

Research works printed but not linked: 3

  1. [12]12. Riondel, A., J. F. Tait, S. A. S. Tait, M. Gut, and B. Little.' Estimation of progesterone in human peripheral blood using 'S-thiosemicarbazide. J. clin. Endocr. 1965, 25, 229.
  2. [14]14. Horton, R. Estimation of androstenedione in human peripheral blood with 'S-thiosemicarbazide. J. clin. Endocr. 1965, 25, 1237.
  3. [31]31. Biglieri, E. G., P. E. Slaton, Jr., W. S. Silen, M. Galante, and P. H. Forsham. Postoperative stud- ies of adrenal function in primary aldosteronism. J. clin. Endocr. 1966, 26, 553.

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Authors
Biglieri, E. G., Herron, M. A., & Brust, N.
Affiliations
San Francisco General Hospital (US)
Venue
Journal of Clinical Investigation
Publisher
American Society for Clinical Investigation
Published
1966-12-01
Volume
45
Issue
12
Pages
1946-1954
ISSN
0021-9738 (ISSN-L)
DOI
10.1172/jci105499
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
Locations
  • Journal of Clinical Investigation (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Cisco Systems
  • National Institutes of Health
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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

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