Congenital adrenal hyperplasia: time to replace 17OHP with 21-deoxycortisol

Miller, Walter L.

doi:10.1159/000501396

Cited by 93Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Congenital adrenal hyperplasia: time to replace 17OHP with 21-deoxycortisol

Miller, Walter L.·2019·Hormone Research in Paediatrics

DOI 10.1159/000501396

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Abstract

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (21OHD) has a worldwide incidence of 1 in 15-20,000. Affected individuals have adrenal insufficiency and androgen excess; the androgen excess begins during fetal life, typically resulting in 46,XX disordered sexual development. In 21OHD, 17-hydroxyprogesterone (17OHP), the steroid proximal to 21-hydroxylase, accumulates. Most industrialized countries have newborn screening programs that measure 17OHP; such screening has permitted rapid detection of newborns with 21OHD, saving lives previously lost to mineralocorticoid deficiency and salt wasting. However, newborn screening is plagued by false positives. 17OHP is above most "cutoff values" in the first 24 h of life, is high in otherwise normal premature infants, and in many term infants with physiologic stress from unrelated diseases. In addition, newborn 17OHP may be elevated in other forms of CAH, including 11-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, and P450 oxidoreductase deficiency. In 21OHD, some of the accumulated intra-adrenal 17OHP is converted to 21-deoxycortisol (21-deoxy) by 11β-hydroxylase (CYP11B1); 21-deoxy is not elevated in premature infants or in other forms of CAH, and hence is a more specific marker for 21OHD. However, 21-deoxy assays have not been generally available until recently, hence experience is limited. We urge clinical investigators, commercial reference laboratories, and newborn screening programs to investigate replacing 17OHP with 21-deoxy as the analyte of choice for studies of 21OHD.

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In 21OHD, 17OHP, the steroid before 21-hydroxylase, accumulates and is traditionally used to diagnose 21OHD.
“In 21OHD, 17OHP, the steroid before 21-hydroxylase, accumulates and is traditionally used to diagnose 21OHD (1,134,135).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [135]

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Authors: Miller, W. L.
Affiliations: University of California, San Francisco (US)
Corresponding author: Miller, Walter L.
ORCID: Miller, Walter L.
Venue: Hormone Research in Paediatrics
Publisher: S. Karger AG
Published: 2019
Volume: 91
Issue: 6
Pages: 416-420
ISSN: 1663-2818 (ISSN-L)
1663-2826
DOI: 10.1159/000501396
OpenAlex: W2971090500
Cited by: 93
References: 38
Citations by year: 2026: 9 · 2025: 12 · 2024: 9 · 2023: 18 · 2022: 19 · 2021: 18 · 2020: 7 · 2019: 1
FWCI: 0.99
Type: journal article
Language: en
Open access: closed
Licence: www.karger.com/Services/SiteLicenses (vor)
www.karger.com/Services/SiteLicenses (tdm)
Locations: Hormone Research in Paediatrics (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, 17-hydroxyprogesterone, 21-deoxycortisol, newborn screening, false positives, 11β-hydroxylase, CYP11B1, preterm infants, hyperandrogenism, 46,XX disorders of sex development, adrenal insufficiency, salt wasting
MeSH terms: Adrenal Hyperplasia, Congenital, Cortodoxone, Female, Humans, Infant, Infant, Newborn, Male, Neonatal Screening, 17-alpha-Hydroxyprogesterone

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Congenital adrenal hyperplasia: time to replace 17OHP with 21-deoxycortisol

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