Accurate diagnosis of congenital adrenal hyperplasia due to <i>CYP21A2</i> variants requires promoter analysis
Non-benign promoter variants occur frequently in individuals with 21-OHD and clinically unaffected carriers. Promoter variants can aggravate clinical presentation in 21-OHD and can explain cases with discrepant genotype and phenotype. Inclusion of CYP21A2 promoter analysis in diagnostic procedures can improve accuracy of diagnosis, management and genetic counseling in patients with 21-OHD and their families.
Authors
- Greisa Vila (ORCID: https://orcid.org/0000-0003-1918-1959)
- Harald Esterbauer (ORCID: https://orcid.org/0000-0001-7343-7455)
- Barbara Obermayer‐Pietsch (ORCID: https://orcid.org/0000-0003-3543-1807)
- Marie Helene Schernthaner-Reiter (ORCID: https://orcid.org/0000-0002-7972-7610)
- Sabina M. Baumgartner-Parzer (ORCID: https://orcid.org/0000-0002-0928-6119)
- Stefan Riedl (ORCID: https://orcid.org/0000-0002-4757-3450)
- Michael Krebs (ORCID: https://orcid.org/0000-0002-9265-7274)
- Stephanie Kleinle (ORCID: https://orcid.org/0000-0003-0135-7143)
Institutions
- Medical University of Graz (AT)
- Medical Genetics Center (DE)
- Medical University of Vienna (AT)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1093/ejendo/lvaf217
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00