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Article

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

The Journal of clinical endocrinology and metabolism - 1 May 1999

Nordenström A, Thilén A, Hagenfeldt L, Larsson A, Wedell A

Abstract excerpt

To evaluate genotyping as a diagnostic complement to neonatal screening for congenital adrenal hyperplasia, 91 children who had been diagnosed with this condition between 1986 and 1997 were analyzed for mutations in the steroid 21-hydroxylase gene. Screening levels of 17-hydroxyprogesterone were compared in patients representing different genotypes. Genotyping was performed using allele-specific PCR, the patients...

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Share to Adrenal Hyperplasia, Congenital
Share to Cytochrome P-450 Enzyme System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10323369
DOI: 10.1210/jcem.84.5.5651

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.PMID 10323369Read ↗

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