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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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
(1981) · PubMed · Cited by 97
Self-citationThe detection of the heterozygous carrier for congenital virilizing adrenal hyperplasia
Gutai, J. P., Kowarski, A. A., & Migeon, C. J. (1977) · The Journal of Pediatrics · doi:10.1016/s0022-3476(77)80560-x · Cited by 93
Adult-onset familial adrenal 21-hydroxylase deficiency
Blankstein, J., Faiman, C., Reyes, F. I., Schroeder, M., & Winter, J. S. D. (1980) · The American Journal of Medicine · doi:10.1016/0002-9343(80)90117-5 · Cited by 90
MIGEON, C. J., ROSENWAKS, Z., LEE, P. A., URBAN, M. D., & BIAS, W. B. (1980) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-51-3-647 · Cited by 85
Genetic and Hormonal Characterization of Cryptic 21-Hydroxylase Deficiency*
LEVINE, L. S., DUPONT, B., LORENZEN, F., PANG, S., POLLACK, M., OBERFIELD, S. E., KOHN, B., LERNER, A., CACCIARI, E., MANTERO, F., et al. (1981) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-53-6-1193 · Cited by 81
Self-citationAbnormal Adrenal Responses to Adrenocorticotropic Hormone in Hyperandrogenic Women
Gibson, M., Lackritz, R. M., Schiff, I., & Tulchinsky, D. (1980) · Fertility and Sterility · doi:10.1016/s0015-0282(16)44475-4 · Cited by 77
Laron, Z., Pollack, M. S., Zamir, R., Roitman, A., Dickerman, Z., Levine, L. S., LORENZEN, F., O’Neill, G. J., PANG, S., New, M. I., et al. (1980) · Human Immunology · doi:10.1016/0198-8859(80)90009-9 · Cited by 72
Self-citationNew, M. I., LORENZEN, F., PANG, S., Günczler, P., Dupont, B., & Levine, L. S. (1979) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-48-2-356 · Cited by 71
Self-citationLORENZEN, F., PANG, S., New, M. I., Pollack, M. S., Oberfield, S. E., Dupont, B., CHOW, D. M., Schneider, B., & Levine, L. S. (1980) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-50-3-572 · Cited by 54
Self-citationPlasma 17-Hydroxyprogesterone, 21-Deoxycortisol and Cortisol in Congenital Adrenal Hyperplasia*
FRANKS, R. C. (1974) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-39-6-1099 · Cited by 53
Lee, P. A., & Gareis, F. J. (1975) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-41-2-415 · Cited by 53
LORENZEN, F., PANG, S., New, M. I., Dupont, B., Pollack, M. S., CHOW, D. M., & Levine, L. S. (1979) · Pediatric Research · doi:10.1203/00006450-197912000-00011 · Cited by 50
Self-citationKrensky, A. M., Bongiovanni, A. M., Marino, J., Parks, J. S., & Tenore, A. (1977) · The Journal of Pediatrics · doi:10.1016/s0022-3476(77)80561-1 · Cited by 49
Attenuated Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*
Lee, P. A., Rosenwaks, Z., Urban, M. D., Migeon, C. J., & Bias, W. Β. (1982) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-55-5-866 · Cited by 39
COMPARISON OF TWO TESTS FOR HETEROZYGOSITY IN CONGENITAL ADRENAL HYPERPLASIA (CAH)
Weil, J., BIDLINGMAIER, F., Sippell, W. G., Butenandt, O., & Knorr, D. (1979) · European Journal of Endocrinology · doi:10.1530/acta.0.0910109 · Cited by 38
Pham-Huu-Trung, M. T., Gourmelen, M., Girard, F., & Marrec, D. (1973) · European Journal of Endocrinology · doi:10.1530/acta.0.0740316 · Cited by 37
Gourmelen, M., Pham-Huu-Trung, M. T., BREDON, M., & Girard, F. (1979) · European Journal of Endocrinology · doi:10.1530/acta.0.0900481 · Cited by 37
Congenital adrenal hyperplasia due to partial 21-hydroxylase deficiency. A study of five cases
Bouchard, P., Kuttenn, F., Mowszowicz, I., SCHAISON, G., Raux-Demay, M. C., & MAUVAIS-JARVIS, P. (1981) · European Journal of Endocrinology · doi:10.1530/acta.0.0960107 · Cited by 32
UNUSUAL HETEROZYGOTES OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY
ZACHMANN, M., & Prader, A. (1978) · European Journal of Endocrinology · doi:10.1530/acta.0.0870557 · Cited by 32
Mauseth, R. S., Hansen, J. A., Smith, E. K., Giblett, E. R., & Kelley, V. C. (1980) · The Journal of Pediatrics · doi:10.1016/s0022-3476(80)80257-5 · Cited by 23
Leichter, S. B., & JACOBS, L. S. (1976) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-42-3-575 · Cited by 23
Gutai, J. P., Lee, P. A., Johnsonbaugh, R. E., Gareis, F. J., Urban, M. D., & Migeon, C. J. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80152-3 · Cited by 18
Levine, L. S., Dupont, B., Lorenzen, S., PANG, S., Pollack, M. S., Kohn, B., Lerner, A. J., CACCIARI, E., Mantero, F., Scaroni, C. M., et al. (1981) · Cited by 10
Self-citation
Flagged first, then by citations
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
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 ›
Are you an author, or do you see a problem with this page? Request a review
