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Article

Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.

American journal of medical genetics - 1 Apr 1998

Witchel S F, Lee P A

Abstract excerpt

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal-recessive disorder. To ascertain carrier status, adrenocorticotropin (ACTH) stimulation tests are often used. To determine the sensitivity of ACTH stimulation to detect heterozygotes and to correlate stimulated 17-hydroxyprogesterone responses with molecular genotype, we compared molecular genetic analysis of the 21-hydroxylase...

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Source

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PMID: 9545098

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.PMID 9545098Read ↗

Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.Semantic proximity Read ↗

Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.Semantic proximity Read ↗

Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.Semantic proximity Read ↗

Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency.Semantic proximity Read ↗

Correlation between genotype and hormonal levels in heterozygous mutation carriers and non-carriers of 21-hydroxylase deficiency.Semantic proximity Read ↗

Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.Semantic proximity Read ↗

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

Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.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 ↗

Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.Semantic proximity Read ↗

Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.Semantic proximity Read ↗

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