Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes
There is considerable heterogeneity in the clinical presentation of patients with CAH due to 11β-OH deficiency. Early diagnosis and treatment are important to prevent complications and improve long-term outcomes. We report 6 different variants of the CYP11B1 gene, including 5 novel variants.
Authors
- Josep Oriola (ORCID: https://orcid.org/0000-0002-8743-7277)
- Ariadna Campos-Martorell (ORCID: https://orcid.org/0000-0002-8134-4934)
- Diego Yeste
- Paula Fernández (ORCID: https://orcid.org/0000-0002-7531-6988)
- Victor Navarro Pérez
- María Clemente
- Elida Mercado Santis
Institutions
- Vall d'Hebron Hospital Universitari (ES)
Publication Details
- Journal
- Anales de Pediatría (English Edition)
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1016/j.anpede.2025.503747
- Citations
- 1
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81