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)
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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.

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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
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