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Article

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.

The Journal of clinical endocrinology and metabolism - 1 Aug 1995

Wilson R C, Mercado A B, Cheng K C, New M I

Abstract excerpt

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...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 7629224
DOI: 10.1210/jcem.80.8.7629224

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.PMID 7629224Read ↗

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for ManagementSemantic proximity Read ↗

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.Semantic proximity Read ↗

Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.Semantic proximity Read ↗

Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.Semantic proximity Read ↗

The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene.Semantic proximity Read ↗

Nonclassic 21-hydroxylase deficiency in Croatia.Semantic proximity Read ↗

CYP21A2 genotypes do not predict the severity of hyperandrogenic manifestations in the nonclassical form of congenital adrenal hyperplasia.Semantic proximity Read ↗

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.Semantic proximity Read ↗

Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients.Semantic proximity Read ↗

Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening.Semantic proximity Read ↗

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