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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“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
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Barcenilla, A. I. C., de la Maza, V. T. S., Ibáñez, L., & Hierro, F. R. (2004) · Anales de Pediatría · doi:10.1016/s1695-4033(04)78302-2 · Cited by 2
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Ionova, T. A., & Tyulpakov, A. N. (2014) · Problems of Endocrinology · doi:10.14341/probl201460323-29 · Cited by 2
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Grošelj, U., Tanšek, M. Ž., Podkrajšek, K. T., Hovnik, T., Battelino, T., & Dolžan, V. (2016) · Acta chimica slovenica · doi:10.17344/acsi.2015.1797 · Cited by 2
Metabolic and endocrine disorders
Martin, R. J., Fanaroff, A. A., & Walsh, M. C. (2011) · Elsevier eBooks · doi:10.1016/b978-0-323-06545-0.00058-3 · Cited by 3
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Barash, G., Drach, L., Naugolni, L., Yacoel, T., Bistritzer, T., & Rachmiel, M. (2021) · Clinical Endocrinology · doi:10.1111/cen.14597 · Cited by 2
Tankoska, M., Anastasovska, V., Krstevska-Konstantinova, M., Naydenov, M. K., & Kočova, M. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2018-0285 · Cited by 2
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Mizuno, H., Ohro, Y., Sugiyama, Y., Ito, T., Hasegawa, T., Homma, K., Ueshiba, H., Ono, M., & Togari, H. (2004) · Hormone Research in Paediatrics · doi:10.1159/000076961 · Cited by 2
A chemiluminescent method for the measurement of pregnanetriol‐3α‐glucuronide in human diluted urine
Pinzani, P., Magini, A., Franceschetti, F., Messeri, G., & Pazzagli, M. (1989) · Journal of Bioluminescence and Chemiluminescence · doi:10.1002/bio.1170040176 · Cited by 2
Guido, M., Romualdi, D., Belosi, C., Selvaggi, L. E., & Lanzone, A. (2004) · Journal of Endocrinological Investigation · doi:10.1007/bf03350915 · Cited by 2
Adrenal response to adrenocorticotropin stimulation in unexplained infertile women
Cohen, I., Blanstein, J., Ben‐Michael, R., Lunenfeld, B., & Eshkol, A. (1988) · International Journal of Gynecology & Obstetrics · doi:10.1016/0020-7292(88)90011-2 · Cited by 2
Congenital enzymatic defects of the adrenal
New, M. I. (1985) · Elsevier eBooks · doi:10.1016/b978-0-407-02275-1.50011-9 · Cited by 2
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Speiser, P. (2009) · Wiley eBooks · doi:10.1002/9781444314342.ch18 · Cited by 2
Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency
Cukier, P., Bachega, T. A. S. S., Mendonça, B. B., & Billerbeck, A. E. C. (2004) · Revista do Hospital das Clínicas · doi:10.1590/s0041-87812004000600010 · Cited by 1
Current and future perspectives on clinical management of classic 21-hydroxylase deficiency
Yogi, A., & Kashimada, K. (2023) · Endocrine Journal · doi:10.1507/endocrj.ej23-0075 · Cited by 1
Małunowicz, E., Ginalska-Malinowska, M., Szypulska, M., & Romer, T. E. (1998) · Annals of Diagnostic Paediatric Pathology · doi:10.1007/s100570050001 · Cited by 1
Anastasovska, V., & Kočova, M. (2010) · Balkan Journal of Medical Genetics · doi:10.2478/v10034-010-0023-7 · Cited by 1
Massa, G., Gillis, P., & Schwartz, M. (2011) · Case Reports in Genetics · doi:10.1155/2011/913020 · Cited by 1
Taboada, G. F., Teixeira, R. D. J., Corrêa, F. H. S., de Andrade, C. R. M., Dimetz, T., & Hohleuwerger, R. (2003) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302003000500008 · Cited by 1
A case of congenital adrenal hyperplasia presenting as adrenal incidentaloma
Choi, M.-J., Kim, B. H., Sohn, K. M., Yang, H. N., Ryu, O. H., Choi, M. G., & Yoo, H. J. (2009) · The Korean Journal of Internal Medicine · Cited by 1
Styne, D. M. (2016) · Springer eBooks · doi:10.1007/978-3-319-18371-8_9 · Cited by 1
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Abernethy, L. J., Blair, J., Smith, J. B., & Didi, M. (2011) · Medical radiology · doi:10.1007/174_2011_202 · Cited by 1
Puscheck, E. E. (2015) · Cambridge University Press eBooks · doi:10.1017/cbo9781139628938.063 · Cited by 1
Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?
Cavarzere, P., Vincenzi, M., Teofoli, F., Gaudino, R., Lauriola, S., Maines, E., Camilot, M., & Antoniazzi, F. (2013) · PubMed · doi:10.3275/9096 · Cited by 1
Schlupper-Beckmann, J. W., Lücke, M., & Mallmann, R. (1989) · Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie · doi:10.1007/bf02171177 · Cited by 1
Ibáñez, L., & Potau, N. (2007) · Endocrinología y Nutrición · doi:10.1016/s1575-0922(07)71426-2 · Cited by 1
Síndrome de ovarios poliquísticos: hiperinsulinemia relacionada con riesgo cardiovascular
Tejerizo-López, L. C., Tejerizo-García, A., Sánchez-Sánchez, M. M., García-Robles, R. M., Leiva, A., Morán, E., Corredera, F., Pérez-Escanilla, J. A., & Benavente, J. M. (2001) · Clínica e Investigación en Ginecología y Obstetricia · doi:10.1016/s0210-573x(01)77088-8 · Cited by 1
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Antônio, J., Marcondes, M., Roberto, C., Barcellos, G., & Rocha, M. P. (2011) · Cited by 1
Anastasovska, V., & Kočova, M. (2010) · PubMed · Cited by 1
Lobo, R. A. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-65399-2.00048-6 · Cited by 1
Congenital Adrenal Hyperplasia (CAH): Definition and Enzymatic Defects in Various Forms
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Solak, G. T. V., Akkuş, G., Solak, Y., Köse, S., & Sert, M. (2022) · Gynecological Endocrinology · doi:10.1080/09513590.2022.2096876 · Cited by 1
Imamura, Y., Fujieda, K., Tajima, T., Yamazaki, T., Miyabayashi, M., Mori, T., & Komiyama, A. (1998) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.7.35 · Cited by 1
Outcome of corticotropin stimulation testing in women with androgen excess and ovulatory dysfunction
Bates, G. W., French, G. M., Humphries, B. B., & Blackhurst, D. W. (1992) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(11)91406-9 · Cited by 1
Rieu, M., Mourriéras, F., Riveline, J., Laplanche, S., Both, D., & Kuhn, J. (1998) · European Journal of Endocrinology · doi:10.1530/eje.0.1390304 · Cited by 1
Hikita, Y. (1985) · Folia Endocrinologica Japonica · doi:10.1507/endocrine1927.61.3_197 · Cited by 1
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New, M. I., & Crawford, C. (1994) · Elsevier eBooks · doi:10.1016/b978-0-12-728960-1.50021-5 · Cited by 1
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Belgorosky, A., Baquedano, M. S., Guercio, G., & Rivarola, M. A. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-499-5_10 · Cited by 1
Heinrich, U., & Gerhard, I. (1994) · Springer eBooks · doi:10.1007/978-3-662-07635-4_7 · Cited by 1
Bongiovanni, A. M. (1985) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1985.tb14584.x · Cited by 1
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Bieber, E. J., Sanfilippo, J. S., Horowitz, I., & Shafi, M. I. (2015) · Cambridge University Press eBooks · doi:10.1017/cbo9781139628938.058 · Cited by 1
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Usadi, R. (2011) · Wiley eBooks · doi:10.1002/9781444391824.ch5
Sokol, R. Z., & Shoupe, D. (2010) · doi:10.1002/9781444323030.ch92
Gomes, L. G. (2009) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2009.tde-09122009-152831
Hirvikoski, T. (2011) · Figshare
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Greger, N. G., & Varma, S. K. (1987) · The Indian Journal of Pediatrics · doi:10.1007/bf02748912
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Zinger, M., & LIU, J. H. (2003) · Elsevier eBooks · doi:10.1016/b978-012053642-9/50017-x
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Shigematsu, Y., Nishi, O., Kubo, M., Kotsuji, F., Tominaga, T., & Sudo, M. (1994) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.3.85
Lima, M. F. P., Baracat, E. C., de Lima, G. R., Pardini, D., da Silva, C. S., & Caetano, M. R. (2000) · Revista Brasileira Ginecologia e Obstetrícia · doi:10.1590/s0100-72032000000900008
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Ryzin, C. V. (2009) · Journal of Pediatric Nursing · doi:10.1016/j.pedn.2009.09.004
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Akın, L. (2012) · Turkish Journal of Family Practice · doi:10.2399/tahd.12.s048
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Baskin, H. J. (1995) · Endocrine Practice · doi:10.4158/ep.1.2.73
ez, L. I., Valls, C., & de Zegher, F. (2006) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000228702.83347.66
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Innanen, V. T., & Vale, J. M. (1990)
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Beastall, G. H. (1993)
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Speiser, P., & Milunsky, A. (2015) · Wiley eBooks · doi:10.1002/9781118981559.ch27
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Ba, N., & Tütüncü, Ç. (2007)
Einaudi, S., Borelli, I., Lala, R., Praticò, L., Curtoni, E. S., & Sanctis, C. D. (1994) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.1994.7.4.349
Aslih, N. (2014) · Reproductive System & Sexual Disorders · doi:10.4172/2161-038x.1000142
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New, M. I. (1986) · Elsevier eBooks · doi:10.1016/b978-0-12-562855-6.50014-5
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Lobo, R. A. (2012) · Elsevier eBooks · doi:10.1016/b978-0-323-06986-1.00040-8
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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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