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

doi:10.1111/j.1399-0004.2011.01694.x

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Article

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

Clinical genetics - 1 Jul 2012

Sarafoglou K, Lorentz C P, Otten N, Oetting W S, Grebe S K G

Abstract excerpt

Newborn screening (NBS) identifies the majority of classical [salt-wasting (SW) and simple-virilizing (SV)] cases of congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase (21α-OHase) during the first days of life. Diagnosis of classical CAH is confirmed by follow-up serum 17-hydroxyprogesterone and/or the adrenocorticotropin stimulation test; however, neither test definitively distinguishes between the...

Topics

17-alpha-Hydroxyprogesterone
Adolescent
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Adult
Alleles
Child
Child, Preschool
Female
Fludrocortisone
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glucocorticoids

Humans

Hydrocortisone

Infant

Infant, Newborn

Male

Mineralocorticoids

Source

Open in PubMed

Identifiers

PMID: 21534945
DOI: 10.1111/j.1399-0004.2011.01694.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-21534945-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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