https://doi.org/10.4081/pmc.2025.340

Challenges in diagnosis and treatment of Cushing disease in a 12-year-old boy

Vol. 47 No. 1 (2025)
Published: February 11 2025
Cushing disease, Ectopic ACTH Syndrome (EAS), ACTH, cortisol, Gamma Knife Surgery (GKS)
Abstract Views: 788
PDF: 237
HTML: 11
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

Authors

Agim Gjikopulli
agimgjikopulli21@gmail.com
Pediatric Endocrinology Unit, Department of Pediatric, University Hospital Center Mother Teresa, Albania.
Sonila Tomori
Pediatric Specialty Service Nr.2, Department of Pediatric, University Hospital Center Mother Teresa, Albania.
Marjeta Tanka
Radiology and Imaging Department, University Hospital Centre Mother Teresa, Albania.
Donjeta Bali
Pediatric Onco-Hematology Service, Department of Pediatric, University Hospital Center Mother Teresa, Albania.

Cushing’s Disease (CD), defined as hypercortisolism caused by excess Adrenocorticotropic Hormone (ACTH) secretion by a pituitary corticotroph adenoma, rarely presents in the pediatric age range. The aim is to describe a 12-year-old Albanian boy with a challenging pathway to diagnosis and treatment process for CD. He presented with headaches, rapid weight gain during the last three years, stunting, increased body hair growth, and a typical Cushingoid appearance. After a consultation in the Pediatric Endocrinology Unit at the University Hospital Center, “Mother Teresa,” in Tirana, the boy was pre-diagnosed with CD, and hypophyseal adenoma was suspected due to suggestive laboratory tests, although non-consistent imaging results. An ectopic ACTH-dependent Cushing syndrome was suspected together with neuroendocrine neoplasia (carcinoid tumor) as a thoracic CT showed a nodular lesion with regular-lobulated sharp contours in the lower lobe of the right lobe resulted in pulmonary tuberculosis granuloma. Even imaging failed to identify the ACTHsecreting microadenoma; the decisive examination was an intervention to collect samples from the inferior petrosal sinus during the CRH test, which found a left-side ACTH-secreting focus. Left hemi-hypophysectomy was performed using gamma knife therapy, resulting in effective normalization of hypercortisolism, but with the side effect of growth hormone deficiency.

Altmetrics

Downloads

Download data is not yet available.

Citations

Crossref
Scopus
Google Scholar
Europe PMC
1. Magiakou MA, Chrousos GP. Cushing’s syndrome in children and adolescents: Current diagnostic and therapeutic strategies. J Endocrinol Invest 2002;25:181-94. DOI: https://doi.org/10.1007/BF03343985
2. Storr HL, Chan LF, Grossman AB, Savage MO. Paediatric Cushing’s syndrome: Epidemiology, investigation and therapeutic advances. Trends Endocrinol Metab 2007;18:167-74. DOI: https://doi.org/10.1016/j.tem.2007.03.005
3. Ragnarsson O, Olsson DS, Chantzichristos D, et al. The incidence of Cushing's disease: a nationwide Swedish study. Pituitary 2019;22:179–86. DOI: https://doi.org/10.1007/s11102-019-00951-1
4. Weber A, Trainer PJ, Grossman AB, et al. Investigation, management and therapeutic outcome in 12 cases of childhood and adolescent Cushing’s syndrome. Clin Endocrinol (Oxf) 1995;43:19-28. DOI: https://doi.org/10.1111/j.1365-2265.1995.tb01888.x
5. Magiakou MA, Mastorakos G, Oldfield EH, et al. Cushing’s syndrome in children and adolescents. Presentation, diagnosis, and therapy. N Engl J Med 1994;331:629-366. DOI: https://doi.org/10.1056/NEJM199409083311002
6. Fahlbusch R. Neurosurgical management of Cushing’s disease in children. In: Savage MO, Bourguignon JP,Grossman AB, eds. Frontiers of Paediatr Neuroendocrinol. Oxford: Blackwell Scientific Publications; 1994: pp. 68–72.
7. Newell-Price JP, Trainer P, Besser GM, Grossman AB. The diagnosis and differential diagnosis of Cushing’s and pseudo-Cushing’s syndrome. Endocrine Rev 1998;19:647–672. DOI: https://doi.org/10.1210/edrv.19.5.0346
8. Storr HL, Afshar F, Matson M, et al. Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing’s disease. Eur J Endocrinol 2005;152:825–33. DOI: https://doi.org/10.1530/eje.1.01921
9. Greening JE, Brain CE, Perry LA, et al. Efficient short-term control of hypercortisolaemia by low-dose etomidate in severe paediatric Cush—ing’s disease. Horm Res 2005;64:140-3. DOI: https://doi.org/10.1159/000088587
10. Chen K, Chen S, Lu L, et al. An Optimized Pathway for the Differential Diagnosis of ACTH-Dependent Cushing's Syndrome Based on Low-Dose Dexamethasone Suppression Test. Front Endocrinol (Lausanne) 2021;12:720823. DOI: https://doi.org/10.3389/fendo.2021.720823
11. Dias R, Storr HL, Perry LA, et al. The discriminatory value of the low-dose dexamethasone suppression test in the investigation of paediatric Cush- ing’s syndrome. Horm Res 2006;65:159-62. DOI: https://doi.org/10.1159/000091830
12. Kanter AS, Diallo AO, Jane JA Jr, et al. Single-center experience with pediatric Cushing’s disease. J Neurosurgery 2005;103: 413–420. DOI: https://doi.org/10.3171/ped.2005.103.5.0413
13. Joshi SM, Hewitt RJ, Storr HL, et al. Cushing’s disease in children and adolescents: 20 years of experience in a single neurosurgical centre. Neurosurgery 2005;57:281–285. DOI: https://doi.org/10.1227/01.NEU.0000166580.94215.53
14. Arnaldi G, Angeli A, Atkinson AB, et al. Diagnosis and Complications of Cushing’s Syndrome: A Consensus Statement. J Clin Endocrinol Metab 2003;88:5593–602. DOI: https://doi.org/10.1210/jc.2003-030871

How to Cite



Challenges in diagnosis and treatment of Cushing disease in a 12-year-old boy. (2025). La Pediatria Medica E Chirurgica, 47(1). https://doi.org/10.4081/pmc.2025.340
Copyright (c) 2025 the Author(s) Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.