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Article

Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.

Journal of tropical pediatrics - 1 Apr 2016

Hoehn Thomas, Lukacs Zoltan, Huckenbeck Wolfgang, Torresani Toni, Blankenstein Oliver, Bounnack Saysanasongkham

Abstract excerpt

BACKGROUND: Results in neonatal screening programs aiming at detection of congenital adrenal hyperplasia (CAH) can only report elevated levels of 17-hydroxy-progesterone (17-OHP), without being able to differentiate presence or absence of salt loss. AIM: To predict presence or absence of salt loss in newborn infants with CAH. METHODS: The first specimen of suspected CAH in samples sent from People's Democratic...

Topics

17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Alleles
Humans
Infant, Newborn
Laos
Molecular Biology
Mutation
Neonatal Screening
Predictive Value of Tests

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Steroid 21-Hydroxylase

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Open in PubMed Open full text

Identifiers

PMID: 26721550
DOI: 10.1093/tropej/fmv078
PMCID: PMC4886113

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-26721550-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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