Assessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant
Our findings emphasize that a significant portion of patients with the mild/mild V281 mutation exhibit inadequate cortisol responses, highlighting the importance of the ACTH stimulation test in diagnosis and the need for careful monitoring in clinical treatment, as well as consideration of genotype variations.
Authors
- Ayşegül Ceran (ORCID: https://orcid.org/0000-0002-3869-1340)
- Rukiye Uyanık (ORCID: https://orcid.org/0000-0001-5461-4233)
- Esra Bilici (ORCID: https://orcid.org/0000-0002-9262-7200)
- Zehra Aycan (ORCID: https://orcid.org/0000-0003-4584-2976)
- Elif Özsu (ORCID: https://orcid.org/0000-0002-3459-5781)
- Merih Berberoğlu (ORCID: https://orcid.org/0000-0003-3102-0242)
- Zeynep Scedil iklar
Institutions
- Ankara University (TR)
- Zonguldak Bülent Ecevit University (TR)
Publication Details
- Journal
- Therapeutic Advances in Endocrinology and Metabolism
- Published
- 2025-10-01
- DOI
- https://doi.org/10.1177/20420188251388397
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00