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BMC Endocrine Disorders
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Open Access 13-11-2024 | Endogenous Cushing's Syndrome | Case Report

Ectopic adrenocorticotrophic hormone syndrome in a 10-year-old girl with a thymic neuroendocrine tumor: a case report

Authors: Irena Aldhoon-Hainerová, Mikuláš Kosák, Michal Kršek, David Zogala, Karel Pacak

Published in: BMC Endocrine Disorders | Issue 1/2024

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Abstract

Background

Thymic neuroendocrine tumor as a cause of Cushing syndrome is extremely rare in children.

Case presentation

We report a case of a 10-year-old girl who presented with typical symptoms and signs of hypercortisolemia, including bone fractures, growth retardation, and kidney stones. The patient was managed with oral ketoconazole, during which she experienced adrenal insufficiency, possibly due to either cyclic adrenocorticotropic hormone (ACTH) secretion or concurrent COVID-19 infection. The patient underwent a diagnostic work-up which indicated the possibility of an ACTH-secreting pituitary neuroendocrine tumor. However, after a transsphenoidal surgery, the diagnosis was not confirmed on histopathological examination. Subsequent bilateral inferior petrosal sinus sampling showed strong indications of the presence of ectopic ACTH syndrome. Detailed rereading of functional imaging studies, including 18F-FDG PET/MRI and 68Ga DOTATOC PET/CT, ultimately identified a small lesion in the thymus. The patient underwent videothoracoscopic thymectomy that confirmed a neuroendocrine tumor with ACTH positivity on histopathological examination.

Conclusion

This case presents some unique challenges related to the diagnosis, management, and treatment of thymic neuroendocrine tumor in a child. We can conclude that ketoconazole treatment was effective in managing hypercortisolemia in our patient. Further, a combination of functional imaging studies can be a useful tool in locating the source of ectopic ACTH secretion. Lastly, in cases of discrepancy in the results of stimulation tests, bilateral inferior petrosal sinus sampling is highly recommended to differentiate between Cushing disease and ectopic ACTH syndrome.
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Metadata
Title
Ectopic adrenocorticotrophic hormone syndrome in a 10-year-old girl with a thymic neuroendocrine tumor: a case report
Authors
Irena Aldhoon-Hainerová
Mikuláš Kosák
Michal Kršek
David Zogala
Karel Pacak
Publication date
13-11-2024
Publisher
BioMed Central
Published in
BMC Endocrine Disorders / Issue 1/2024
Electronic ISSN: 1472-6823
DOI
https://doi.org/10.1186/s12902-024-01756-5

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