The adrenogenital syndrome
Abstract
A brief resume of the adrenocortical enzymes concerned with the steroidal transformations discussed herein and a partial review of the literature follow. The enzyme (or enzymes) responsible for the conversation of pregnenolone to progesterone (1 to 2 in Fig. 1) is termed 3-beta-hydroxysteroid dehydrogenase (A). This catalyzes the oxidation of the -OH group in the C-3 position, and it is probable that a second enzyme, "isomerase," converts the unsaturated compound from Δ5 to Δ4, although this alteration is known to occur in the course of ordinary chemical oxidation of this hydroxyl group. The enzyme, 3-beta-hydroxysteroid dehydrogenase, was . . .
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Life-saving neonatal screening for classic CAH due to 21OH deficiency was first performed in Alaska in 1977.
“Life-saving neonatal screening for classic CAH due to 21OH deficiency was first performed in Alaska in 1977 7 and is currently being carried out worldwide in over 40 countries, including all 50 US states since 2009, though not yet implemented in the UK.”
From Congenital adrenal hyperplasia (2017) · cites this paper as [7]
Neonatal screening for classic CAH due to 21OH deficiency is currently carried out worldwide in over 40 countries, including all 50 US states since 2009, though not yet implemented in the UK.
“Life-saving neonatal screening for classic CAH due to 21OH deficiency was first performed in Alaska in 1977 7 and is currently being carried out worldwide in over 40 countries, including all 50 US states since 2009, though not yet implemented in the UK.”
From Congenital adrenal hyperplasia (2017) · cites this paper as [7]
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Congenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669 · see citing works
Miranda, M. C. D., Oliveira, A. C. M. D., Soares, G. J., Batatinha, J. A. P., Latronico, A. C., Mendonca, B. B., & Bachega, T. A. S. S. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1770274 · Cited by 2 · see citing works
“Years later, Bongiovanni and Root (4) identi fi ed 21-OHD as the biochemical cause of CAH, linking the disorder to a speci fi c enzymatic defect in the steroidogenic pathway.”
- Authors
- Bongiovanni, A. M., & Root, A. W.
- Affiliations
- University of Pennsylvania (US)
- ORCID
- Root, Allen W.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1963-06-13
- Volume
- 268
- Issue
- 24
- Pages
- 1342-1351
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W4243087799
- Cited by
- 52
- References
- 47
- Citations by year
- 2026: 1 · 2022: 1 · 2017: 3 · 2014: 1 · 2013: 1
- FWCI
- 2.04
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- 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
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Keywords
- adrenogenital syndrome, congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase, steroidogenesis
- MeSH terms
- Adrenal Cortex Hormones, Adrenal Hyperplasia, Congenital, Steroids, Adrenogenital Syndrome
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