Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report
Rizzuto P; Gangat M; Khattab A; Marshall I · 2026 · Journal of clinical research in pediatric endocrinology
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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…
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Metadata source: Europe PMC · DOI 10.4274/jcrpe.galenos.2025.2024-10-16