The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype
Abstract
Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia. We have determined the 21-hydroxylase genotype in 197 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency and assessed phenotypic characteristics based on 1) genital status with respect to virilization in females, 2) ACTH stimulation tests to evaluate the secretion of androgens and 17-hydroxyprogesterone, and 3) salt deprivation tests to precisely describe the phenotype with respect to aldosterone deficiency and salt wasting. After dividing our patients into 26 21-hydroxylase gene mutation-identical groups, we found that, in general, the patient's phenotype matched the severity of the genotype. However, in 13 of these groups, the genotype did not always predict the phenotype, even within families. This study, has demonstrated that the 10 most common mutations observed in the 21-hydroxylase gene result in phenotypes that are not always concordant with the genotype.
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In the citing paper
“Generally, a good correlation is observed between CYP21A2 genotype and clinical phenotype, although some discrepancies have been reported especially within mutation groups of intermediate severity, making phenotype prediction unreliable (14).”
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 [14]
In the citing paper
“Approximately 65-75% of the CAH patients are compound heterozygotes, and the clinical expression correlates with the less severely mutated allele, and, consequently, with the residual activity of 21-OH (14).”
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 [14]
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Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,468
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,420
Congenital adrenal hyperplasia
Speiser, P. W., & White, P. C. (2003) · New England Journal of Medicine · doi:10.1056/nejmra021561 · Cited by 1,405
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432
Speiser, P. W., Arlt, W., Auchus, R. J., Baskin, L. S., Conway, G. S., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S. E., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01865 · Cited by 1,234
Metadata
- Authors
- Wilson, R. C.
- ORCID
- Wilson, R. C.
- Venue
- Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1995-08-01
- Volume
- 80
- Issue
- 8
- Pages
- 2322-2329
- ISSN
- 0021-972X (ISSN-L)
- OpenAlex
- W2014696401
- Cited by
- 324
- References
- 0
- Citations by year
- 2025: 2 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 6 · 2020: 8 · 2019: 10 · 2018: 6 · 2017: 3 · 2016: 9 · 2015: 8 · 2014: 7 · 2013: 10 · 2012: 6
- FWCI
- 4.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (RR06020)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 00072)
- 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
- 21-hydroxylase deficiency, congenital adrenal hyperplasia, genotype-phenotype discordance, 17-hydroxyprogesterone, ACTH stimulation test, aldosterone deficiency, salt wasting
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adult, Aldosterone, Alleles, Child, Preschool, Female, Genotype, Humans, Infant, Newborn, Male, Mutation, Phenotype, Regression Analysis, Steroid 21-Hydroxylase, Virilism
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