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Article

Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.

Minerva pediatrics - 1 Feb 2024

David Jan, Hrubá Zuzana, Kolouâková Stanislava, Votava Felix

Abstract excerpt

BACKGROUND: Normalizing growth in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) requires a long-term maintenance of a fragile balance between hydrocortisone (HC) replacement and androgen suppression. The growth pattern in children with 21OHD-CAH diagnosed by clinical symptoms has been evaluated in numerous retrospective studies. The aim of this study was to evaluate...

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Source

Identifiers

PMID: 32508077
DOI: 10.23736/S2724-5276.20.05795-3

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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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