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Article

Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report

Journal of clinical research in pediatric endocrinology - 22 May 2026

Rizzuto Patrick, Gangat Mariam, Khattab Ahmed, Marshall Ian

Abstract excerpt

21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Salt-wasting CAH can present with life-threatening salt-wasting crises, underscoring the importance of universal newborn screening. We present a patient diagnosed with classical CAH despite four negative newborn screening (NBS). A male infant was born at 35 weeks gestation with birthweight 1470 grams following signs of...

Topics

Humans
Adrenal Hyperplasia, Congenital
Male
Infant, Newborn
Neonatal Screening
False Negative Reactions
Steroid 21-Hydroxylase
Mutation
17-alpha-Hydroxyprogesterone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 41797552
DOI: 10.4274/jcrpe.galenos.2025.2024-10-16
PMCID: PMC13197087

Genes

CYP21A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-41797552-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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