Rare case of ACTH-independent Cushing syndrome: diagnostic challenges and management
This case underscores the diagnostic and therapeutic challenges associated with rare pediatric cases of ACTH-independent CS. The treatment course, which included metyrapone, adrenalectomy, and off-label use of osilodrostat, resulted in significant improvement in cortisol control and clinical symptoms. Ongoing genetic analysis is being conducted to explore potential underlying genetic factors contributing to the patient's non-pigmented micronodular adrenal hyperplasia and developmental delay.
Authors
- Mário Rui Correia (ORCID: https://orcid.org/0000-0002-0999-6524)
- C. Prior (ORCID: https://orcid.org/0000-0003-4650-264X)
- Luís Salazar (ORCID: https://orcid.org/0000-0002-3760-5121)
- Teresa Borges (ORCID: https://orcid.org/0000-0002-8501-6639)
- Maria João Oliveira (ORCID: https://orcid.org/0000-0003-0661-8947)
- Claúdia Amaral
- Jorge Silva (ORCID: https://orcid.org/0000-0002-0239-2744)
- Catarina Figueiredo (ORCID: https://orcid.org/0000-0002-5404-782X)
- Ribeiro de Castro
- Suzana Aparecida Costa de Araújo
Institutions
- Universidade do Porto (PT)
- Unidade Local de Saúde de Entre Douro e Vouga (PT)
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
- Hospital de Santo António (PT)
- Centro Hospitalar do Porto (PT)
- University of Minho (PT)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-04-24
- DOI
- https://doi.org/10.1515/jpem-2025-0056
- Citations
- 2
- Primary Topic
- Pituitary Gland Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 2.59