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Cited by 624Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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

NEW, MARIA I., LORENZEN, FRANZISKA, LERNER, ALAN J., KOHN, BRENDA, OBERFIELD, SHARON E., POLLACK, MARILYN S., DUPONT, BO, STONER, ELIZABETH, LEVY, DONNA J., PANG, SONGYA, LEVINE, LENORE S.·1983·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jcem-57-2-320
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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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Crossref · 10.1210/jcem-57-2-320

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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)
ORCID
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
DOI
10.1210/jcem-57-2-320
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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