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.

doi:10.1210/jcem-57-2-320

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

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 +3 more·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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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.
“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]
Diagnosis of NCCAH due to 21-hydroxylase deficiency is based on elevated baseline and ACTH-stimulated 17-hydroxyprogesterone levels.
“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]
Baseline 17-hydroxyprogesterone levels above 5 ng/ml (15 nmol/l) and ACTH-stimulated values above 10 ng/ml (30 nmol/l) are the established cutoffs for diagnosing NCCAH.
“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]

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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: LERNER, ALAN J.
KOHN, BRENDA
OBERFIELD, SHARON E.
DUPONT, BO
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: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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Genotyping steroid 21-hydroxylase deficiency: hormonal reference data

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