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Screening Tests for Congenital Adrenal Hyperplasia
Abstract
A method of plasma steroid determinations utilizing solvent partition separation and competitive protein-binding quantitation has been evaluated as a screening test for congenital adrenal hyperplasia (CAH). Aliquots of petroleum ether (before and after incubation with 3β-hydroxysteroid dehydrogenase), benzene and dichlormethane extracts of a deproteinized plasma sample are compared to 17-hydroxyprogesterone, compound S and cortisol standards, respectively. Results in ng of steroid per ml of plasma are expressed as a precursor to cortisol ratio. Determinations on specimens other than cord blood allowed identification of normals (children and adults) and subjects with C-21 (children with CAH) or C-11 (adults post-metyrapone) hydroxylation defects. Patients with 3β-HSD or C-17 hydroxylation defects were not available for study but determinations on pooled plasma containing 17-hydroxypregnenolone or corticosterone suggest these defects could also be detected.
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“It is widely recognized that 17-hydroxy- a substrate for adrenal 21-hydroxylase is progesterone (17-OH-progesterone) which is markedly increased in the serum of untreated and insufficiently controlled patients”
From Serum 17-hydroxypregnenolone and 17-hydroxypregnenolone sulfate concentrations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1988) · cites this paper as Franks, 1972
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Hughes, I. A., & Winter, J. S. D. (1976) · The Journal of Pediatrics · doi:10.1016/s0022-3476(76)81112-2 · Cited by 106
SHIMOZAWA, K., SAISHO, S., YATA, J.-I., & KAMBEGAWA, A. (1988) · Endocrinologia Japonica · doi:10.1507/endocrj1954.35.11 · Cited by 6
Metadata
- Authors
- FRANKS, R. C.
- Affiliations
- The University of Texas at San Antonio Health Science Center (US)
- Corresponding author
- FRANKS, ROBERT C.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1972-12
- Volume
- 35
- Issue
- 6
- Pages
- 831-835
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1965902312
- Cited by
- 9
- References
- 0
- FWCI
- 0.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- 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, screening test, competitive protein binding assay, 17-hydroxyprogesterone, 17-hydroxypregnenolone, cortisol, 3β-hydroxysteroid dehydrogenase, 21-hydroxylase deficiency, 11beta-hydroxylase deficiency, umbilical cord blood
- MeSH terms
- Adrenocortical Hyperfunction, Adrenal Hyperplasia, Congenital, Binding, Competitive, Humans, Hydrocortisone, Hydroxylation, 17-alpha-Hydroxypregnenolone, Hydroxyprogesterones, Hyperplasia, Methods, Metyrapone, Tritium, Umbilical Cord
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