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...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2025-02-01
|
| Series: | La Pediatria Medica e Chirurgica |
| Subjects: | |
| Online Access: | https://www.pediatrmedchir.org/pmc/article/view/340 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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.
|
|---|---|
| ISSN: | 0391-5387 2420-7748 |