Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.

doi:10.1016/j.jfma.2017.03.008

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Article

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Feb 2018

Liu Shih-Yao, Lee Cheng-Ting, Tung Yi-Ching, Chien Yin-Hsiu, Hwu Wuh-Liang, Tsai Wen-Yu

Abstract excerpt

BACKGROUND/PURPOSE: Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Taiwan since 2000. This study aimed to determine the clinical characteristics of Taiwanese children with CAH due to 21-hydroxylase deficiency (21-OHD) detected by neonatal screening. METHODS: Fro...

Topics

17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Female
Humans
Hydrocortisone
Hyperpigmentation
Infant
Infant, Newborn
Male
Mutation
Neonatal Screening
Steroid 21-Hydroxylase
Taiwan

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Open in PubMed

Identifiers

PMID: 28392195
DOI: 10.1016/j.jfma.2017.03.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-28392195-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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