21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form
A negative neonatal screening result does not exclude milder forms of 21-hydroxylase deficiency during the differential diagnostic procedure of children with precocious pseudopuberty.
Authors
- Jan David (ORCID: https://orcid.org/0000-0003-1131-2475)
- Monika Hedelová
- Hana Vinohradská
- Zuzana Hrubá
- Alena Fialová (ORCID: https://orcid.org/0000-0002-1122-2528)
- Felix Votava
Institutions
- Charles University (CZ)
- Masaryk University (CZ)
- University Hospital Brno (CZ)
- National Institute of Public Health (CZ)
- University Hospital Kralovske Vinohrady (CZ)
Publication Details
- Journal
- Experimental and Clinical Endocrinology & Diabetes
- Published
- 2024-10-02
- DOI
- https://doi.org/10.1055/a-2433-0891
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00