Adrenal Cushing Syndrome: Diagnosis and Management in a 10-Year-Old Boy with Carney Complex
This is the first report on the clinical and biochemical effects of 2-year medical treatment with metyrapone of PPNAD-related hypercortisolaemia in a paediatric patient with CNC. Currently, there are no established protocols for the management of hypercortisolism in PPNAD and data are scarce, especially in the paediatric field. Medical therapies may play a role in reducing the need, at least initially, for patients to undergo bilateral adrenalectomy. However, further studies on larger case series are needed to clarify this aspect. In cases of CS due to PPNAD in which medical therapy was the initial approach, in the absence of clear clinical, auxological, and biochemical improvements, metyrapone may have to be discontinued in favour of another approach, including surgery.
Authors
- Małgorzata Waśniewska (ORCID: https://orcid.org/0000-0002-8299-2677)
- Jérôme Bertherat (ORCID: https://orcid.org/0000-0003-2551-3008)
- Salvatore Cannavò (ORCID: https://orcid.org/0000-0001-8779-7283)
- Domenico Corica (ORCID: https://orcid.org/0000-0002-3628-1612)
- Cecilia Lugarà
- Giorgia Pepe (ORCID: https://orcid.org/0000-0003-1130-829X)
- Éric Pasmant (ORCID: https://orcid.org/0000-0002-1881-8762)
- Francesco Ferraù (ORCID: https://orcid.org/0000-0002-7472-6598)
- Mariella Valenzise (ORCID: https://orcid.org/0000-0001-7398-3210)
- Tommaso Aversa (ORCID: https://orcid.org/0000-0002-1754-6822)
Institutions
- University of Messina (IT)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Institut Cochin (FR)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2024-08-05
- DOI
- https://doi.org/10.1159/000540691
- Citations
- 1
- Primary Topic
- Cardiac tumors and thrombi
- Type
- article
- Field-Weighted Citation Impact
- 0.40