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Cited by 35Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

The classic and nonclassic concenital adrenal hyperplasias

Auchus, Richard J.·2015·Endocrine Practice
DOI 10.4158/ep14474.ra
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Abstract

Objective The American Association of Clinical Endocrinologists Adrenal Scientific Committee has developed a series of articles to update members on the genetics of adrenal diseases.Methods Case presentation, discussion of literature, table, and bullet point conclusions.Results The congenital adrenal hyperplasia (CAH) syndromes are autosomal recessive defects in cortisol biosynthesis. The phenotype of each CAH patient depends on the defective enzyme and the severity of the defect. Clinical manifestations derive from both failure to synthesize hormones distal to the enzymatic block, as well as consequences from cortisol precursor accumulation proximal to the block, often with diversion to other biologically active steroids. The most common form of CAH is 21-hydroxylase deficiency, which occurs in the classic form in 1 in 16,000 newborns and in a milder or nonclassic form in at least 1 in 1,000 people.Conclusion This article reviews the various forms of CAH and pitfalls in the diagnosis and treatment of these conditions.

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  • Nonclassical adrenal hyperplasia has a population prevalence of 1:1000 vs 1:16,000 for classical congenital adrenal hyperplasia.

    “Nonclassical adrenal hyperplasia is a milder and later (adult) onset variant of classical congenital adrenal hyperplasia (48) with a much higher but still rare population prevalence (1:1000 vs 1:16,000 for the classical variant) (49).”

    From Circulating Testosterone as the Hormonal Basis of Sex Differences in Athletic Performance (2018) · cites this paper as [49]

  • It is unlikely that mild nonclassical congenital adrenal hyperplasia is a major contributor to the mild hyperandrogenism prevalent among elite female athletes.

    “It is unlikely that mild nonclassical congenital adrenal hyperplasia is a major contributor to the mild hyperandrogenism prevalent among elite female athletes.”

    From Circulating Testosterone as the Hormonal Basis of Sex Differences in Athletic Performance (2018) · cites this paper as [49]

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Authors
Auchus, R. J.
Affiliations
University of Michigan (US)
Corresponding author
Auchus, Richard J.
ORCID
Auchus, Richard J.
Venue
Endocrine Practice
Publisher
Elsevier BV
Published
2015-04
Volume
21
Issue
4
Pages
383-389
ISSN
1530-891X (ISSN-L)
DOI
10.4158/ep14474.ra
OpenAlex
W2076869762
Cited by
35
References
38
Citations by year
2026: 1 · 2024: 4 · 2023: 2 · 2022: 6 · 2020: 3 · 2019: 3 · 2018: 7 · 2017: 4 · 2016: 5
FWCI
1.23
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Endocrine Practice (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, non-classical congenital adrenal hyperplasia, 11beta-hydroxylase deficiency, 17-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency, cortisol production, autosomal recessive inheritance, disorders of sex development, congenital lipoid adrenal hyperplasia, newborn screening, ACTH stimulation test, treatment
MeSH terms
Adrenal Hyperplasia, Congenital, Adult, Female, Genetic Testing, Humans

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