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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...

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Share to 17-alpha-Hydroxyprogesterone
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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