Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report
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...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2025-02-01
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| Series: | La Pediatria Medica e Chirurgica |
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| Online Access: | https://www.pediatrmedchir.org/pmc/article/view/340 |
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| author | Agim Gjikopulli Sonila Tomori Marjeta Tanka Donjeta Bali |
| author_facet | Agim Gjikopulli Sonila Tomori Marjeta Tanka Donjeta Bali |
| author_sort | Agim Gjikopulli |
| collection | DOAJ |
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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 Cushing's disease. 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 Cushing Syndrome, 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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| format | Article |
| id | doaj-art-019212626dc544d895480516d43b64c7 |
| institution | Kabale University |
| issn | 0391-5387 2420-7748 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | La Pediatria Medica e Chirurgica |
| spelling | doaj-art-019212626dc544d895480516d43b64c72025-02-12T07:42:59ZengPAGEPress PublicationsLa Pediatria Medica e Chirurgica0391-53872420-77482025-02-0147110.4081/pmc.2025.340Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case reportAgim Gjikopulli0Sonila Tomori1Marjeta Tanka2Donjeta Bali3Pediatric Endocrinology Unit, Department of Pediatric, University Hospital Center Mother TeresaPediatric Specialty Service Nr.2, Department of Pediatric, University Hospital Center Mother TeresaRadiology and Imaging Department, University Hospital Centre Mother TeresaPediatric Onco-Hematology Service, Department of Pediatric, University Hospital Center Mother Teresa 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 Cushing's disease. 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 Cushing Syndrome, 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. https://www.pediatrmedchir.org/pmc/article/view/340Cushing diseaseEctopic ACTH Syndrome (EAS)ACTHcortisolGamma Knife Surgery (GKS) |
| spellingShingle | Agim Gjikopulli Sonila Tomori Marjeta Tanka Donjeta Bali Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report La Pediatria Medica e Chirurgica Cushing disease Ectopic ACTH Syndrome (EAS) ACTH cortisol Gamma Knife Surgery (GKS) |
| title | Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report |
| title_full | Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report |
| title_fullStr | Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report |
| title_full_unstemmed | Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report |
| title_short | Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report |
| title_sort | challenges in diagnosis and treatment of cushing disease in a 12 year old boy case report |
| topic | Cushing disease Ectopic ACTH Syndrome (EAS) ACTH cortisol Gamma Knife Surgery (GKS) |
| url | https://www.pediatrmedchir.org/pmc/article/view/340 |
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