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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...

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Source

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Identifiers

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

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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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