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Cited by 1,432Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*

White, Perrin C., Speiser, Phyllis W.·2000·Endocrine Reviews
DOI 10.1210/edrv.21.3.0398
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Abstract

More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot synthesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal “salt wasting” crises if not treated. The disease is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. More than 90% of these mutations result from intergenic recombinations between CYP21 and the closely linked CYP21P pseudogene. Approximately 20% are gene deletions due to unequal crossing over during meiosis, whereas the remainder are gene conversions—transfers to CYP21 of deleterious mutations normally present in CYP21P. The degree to which each mutation compromises enzymatic activity is strongly correlated with the clinical severity of the disease in patients carrying it. Prenatal diagnosis by direct mutation detection permits prenatal treatment of affected females to minimize genital virilization. Neonatal screening by hormonal methods identifies affected children before salt wasting crises develop, reducing mortality from this condition. Glucocorticoid and mineralocorticoid replacement are the mainstays of treatment, but more rational dosing and additional therapies are being developed.

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Metadata

Authors
White, P. C., & Speiser, P. W.
Affiliations
  • The University of Texas Southwestern Medical Center (US)
  • North Shore University Hospital (US)
Corresponding author
White, Perrin C.
ORCID
Venue
Endocrine Reviews
Publisher
The Endocrine Society
Published
2000-06-01
Volume
21
Issue
3
Pages
245-291
ISSN
  • 0163-769X (ISSN-L)
  • 1945-7189
DOI
10.1210/edrv.21.3.0398
OpenAlex
W2148614804
Cited by
1,432
References
62
Citations by year
2026: 16 · 2025: 20 · 2024: 58 · 2023: 47 · 2022: 43 · 2021: 51 · 2020: 57 · 2019: 58 · 2018: 41 · 2017: 99 · 2016: 49 · 2015: 60 · 2014: 69 · 2013: 69 · 2012: 69
FWCI
3.27
Type
journal article
Language
en
Open access
closed
Locations
  • Endocrine Reviews (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (5r37dk037867-17)
  • National Institute of Diabetes and Digestive and Kidney Diseases (R37 DK-37867)
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, CYP21, intergenic recombination, gene conversion, unequal crossover, salt-wasting crisis, prenatal diagnosis, newborn screening, glucocorticoid replacement therapy, mineralocorticoid replacement, hyperandrogenism, cortisol production
MeSH terms
Adrenal Cortex Hormones, Adrenal Glands, Adrenal Hyperplasia, Congenital, Amino Acid Sequence, Base Sequence, Female, Genotype, Glucocorticoids, Humans, Male, Molecular Sequence Data, Mutation, Phenotype, Disorders of Sex Development, Steroid 21-Hydroxylase, Structure-Activity Relationship

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