The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data
Abstract
Hormonal reference data, in the form of nomograms relating baseline and stimulated levels of adrenal hormones, provide a means of genotyping steroid 21-hydroxylase (21-OH) deficiency in congenital adrenal hyperplasia. Data from both 360- and 60-min ACTH stimulation tests are given. The serum hormone concentrations that have proven most useful in classifying 21-OH deficiency are 17-hydroxyprogesterone and delta 4-androstenedione. These nomograms clearly distinguish the patient with classical 21-OH deficiency from those with the milder symptomatic and asymptomatic nonclassical forms of 21-OH deficiency (previously referred to as late onset and cryptic forms) as well as heterozygotes for all of the forms and those subjects predicted by HLA genotyping to be unaffected. The nomograms also can identify individuals heterozygous for 21-OH deficiency in the general population who have a characteristic heterozygote response. These nomograms provide a powerful tool by which to assign the 21-OH deficiency genotype. Patients whose hormonal values fall on the regression line within a defined group are assigned to that group. In view of the strong correlation between the 60- and 360-min ACTH stimulation tests, the less cumbersome and shorter 60-min test can be used with the same confidence as the longer test.
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In the citing paper
“Similar to nonclassic lipoid CAH, nonclassic SCC deficiency has been described with delayed adrenal insufficiency onset and variable gonadal effect, caused by mutations corresponding to 7-30% of retained enzyme activity.[55][56][57][58]”
From Congenital adrenal hyperplasia (2017) · cites this paper as [56]
In the citing paper
“The diagnosis is based on elevated baseline and ACTH-stimulated 17-hydroxyprogesterone (17-OHP) levels.”
From Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche (2011) · cites this paper as [8]
In the citing paper
“Baseline 17-OHP levels O5 ng/ml (O15 nmol/l) and ACTH-stimulated 17-OHP values O10 ng/ml (O30 nmol/l) are the cutoffs established for the diagnosis of the disease (8,9).”
From Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche (2011) · cites this paper as [8]
Citations
Cites
Microdroplet Assay of Human Serum Cytotoxins
Terasaki, P. I., & McClelland, J. D. (1964) · Nature · doi:10.1038/204998b0 · Cited by 2,072
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency)
Dupont, B., Oberfield, S. E., Smithwick, E. M., Lee, T. D., & Levine, L. S. (1977) · The Lancet · doi:10.1016/s0140-6736(77)90362-2 · Cited by 371
Self-citationPANG, S., HOTCHKISS, J., DRASH, A. L., LEVINE, L. S., & NEW, M. I. (1977) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-45-5-1003 · Cited by 293
Self-citationLate-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia
KOHN, B., LEVINE, L. S., POLLACK, M. S., PANG, S., LORENZEN, F., LEVY, D., LERNER, A. J., RONDANINI, G. F., DUPONT, B., & NEW, M. I. (1982) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-55-5-817 · Cited by 204
Self-citationGenetic Mapping of the 21-Hydroxylase-Deficiency Gene within the HLA Linkage Group
Levine, L. S., ZACHMANN, M., New, M. I., Prader, A., Pollack, M. S., O'Neill, G. J., Yang, S. Y., Oberfield, S. E., & Dupont, B. (1978) · New England Journal of Medicine · doi:10.1056/nejm197810262991702 · Cited by 202
Self-citationCHROUSOS, G. P., LORIAUX, D. L., MANN, D. L., & CUTLER, G. B. (1982) · Annals of Internal Medicine · doi:10.7326/0003-4819-96-2-143 · Cited by 158
Løbo, R. A., & Goebelsmann, U. (1980) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(80)90095-2 · Cited by 157
Levine, L. S., Dupont, B., LORENZEN, F., PANG, S., Pollack, M. S., Oberfield, S. E., Kohn, B., Lerner, A. J., CACCIARI, E., Mantero, F., et al. (1980) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-51-6-1316 · Cited by 111
Self-citationSerum Androgens as a Continuing Index of Adequacy of Treatment of Congenital Adrenal Hyperplasia*
KORTH-SCHÜTZ, S., Virdis, R., Saenger, P. H., CHOW, D. M., Levine, L. S., & New, M. I. (1978) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-46-3-452 · Cited by 103
Self-citationAn Attenuated Form of Congenital Virilizing Adrenal Hyperplasia*
Rosenwaks, Z., Lee, P. A., Jones, G. S., Migeon, C. J., & Wentz, A. C. (1979) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-49-3-335 · Cited by 102
Cited by
Sorted by citations
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
Witchel, S. F., Oberfield, S., Rosenfield, R. L., Codner, E., Bonny, A., Ibáñez, L., Pena, A., Horikawa, R., Gomez-Lobo, V., Joel, D., et al. (2015) · Hormone Research in Paediatrics · doi:10.1159/000375530 · Cited by 3,113
Self-citationSpeiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,468
Self-citationCongenital adrenal hyperplasia due to 21-hydroxylase deficiency*
White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,420
Congenital adrenal hyperplasia
Speiser, P. W., & White, P. C. (2003) · New England Journal of Medicine · doi:10.1056/nejmra021561 · Cited by 1,405
Metadata
- Authors
- NEW, M. I., LORENZEN, F., LERNER, A. J., KOHN, B., OBERFIELD, S. E., POLLACK, M. S., DUPONT, B., STONER, E., LEVY, D. J., PANG, S., & LEVINE, L. S.
- Affiliations
- Memorial Sloan Kettering Cancer Center (US)
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1983-08
- Volume
- 57
- Issue
- 2
- Pages
- 320-326
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2010208043
- Cited by
- 624
- References
- 33
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 4 · 2023: 7 · 2022: 6 · 2021: 17 · 2020: 15 · 2019: 10 · 2018: 7 · 2017: 12 · 2016: 16 · 2015: 17 · 2014: 8 · 2013: 13 · 2012: 10
- FWCI
- 4.13
- 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, 21-hydroxylase deficiency, genotyping, ACTH stimulation test, 17-hydroxyprogesterone, Δ4-androstenedione, nomogram, heterozygotes, HLA typing, adrenal hormones
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adrenocorticotropic Hormone, Androstenedione, Female, Genotype, HLA Antigens, Humans, Hydroxyprogesterones, Kinetics, Male, Steroid Hydroxylases, Steroid 21-Hydroxylase
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