Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam
Children with SV-CAH are often diagnosed late. To avoid that, early genetic analysis should be prioritized, especially for children diagnosed through newborn screening programs. Determining the genotype is crucial for optimizing treatment strategies, ensuring personalized management, and avoiding overtreatment.
Authors
- Mai Thi Phuong Nguyen
- G Dang (ORCID: https://orcid.org/0000-0003-3711-0206)
- Trần Minh Điền (ORCID: https://orcid.org/0000-0003-4012-764X)
- Dũng Chí Vũ (ORCID: https://orcid.org/0000-0002-6153-2356)
- Ngoc Diem Ngo
- Ngoc Thi Bich Can
- Khanh Ngoc Nguyen (ORCID: https://orcid.org/0009-0003-1102-9626)
- Huong T. Pham (ORCID: https://orcid.org/0000-0002-6896-133X)
- Thao Phuong Bui (ORCID: https://orcid.org/0009-0001-0488-2253)
Institutions
- Institute of Human Genetics (PL)
- Vietnam National Children's Hospital (VN)
- Center for Genomic Science (IT)
Publication Details
- Journal
- Annals of Pediatric Endocrinology & Metabolism
- Published
- 2025-05-06
- DOI
- https://doi.org/10.6065/apem.2448292.146
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kaiser Permanente
- University of Washington