Primary adrenal insufficiency in patients with <i>CPOX</i> gene mutations
CPOX gene mutations cause a mixed model of PAI, affecting mitochondrial steroidogenic enzymes. Clinical manifestations of harderoporphyria may overlap with PAI signs.
Authors
- Gülden Gökçay (ORCID: https://orcid.org/0000-0003-3726-5726)
- Büşra Gürpınar Tosun (ORCID: https://orcid.org/0000-0002-7588-9807)
- Betul Karademir-Yilmaz (ORCID: https://orcid.org/0000-0003-1762-0284)
- Tülay Güran (ORCID: https://orcid.org/0000-0003-2658-6866)
- Elif Keleştemur
- Özge Yapıcı (ORCID: https://orcid.org/0000-0001-7333-0623)
- Murat Hakkı Yarar (ORCID: https://orcid.org/0000-0001-8481-9803)
- Meryem Karaca (ORCID: https://orcid.org/0000-0002-0662-7344)
- Ayşe Mine Yılmaz (ORCID: https://orcid.org/0000-0003-0802-523X)
Institutions
- Ümraniye Eğitim ve Araştırma Hastanesi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- Istanbul University (TR)
- Marmara University (TR)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-04-29
- DOI
- https://doi.org/10.1093/ejendo/lvaf089
- Citations
- 5
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 4.03