Delayed Diagnosis of Classic Congenital Adrenal Hyperplasia Secondary to False-Negative Newborn Screening Results.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 40250798.
- Also identified by DOI 10.1016/j.jpeds.2025.114597.
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Abstract
False-negative newborn screening data for congenital adrenal hyperplasia are limited and have not included Pennsylvania and New Jersey. Within our program, we identified 16 missed cases of 96 patients born in Pennsylvania and New Jersey between 1998 and 2024, highlighting the need for continued evaluation in clinically suspicious circumstances despite normal screening.
Medical subject headings
- Adrenal Hyperplasia, Congenital
- Neonatal Screening
- Delayed Diagnosis