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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Bao, Xu-dong Lu, Lin Zhu, Hui-juan Yao, Yong Feng, Ming Wang, Ren-zhi Zhai, Xiao Fu, Yong Gong, Feng-ying Lu, Zhao-lin |
| Abstract | Background Cushing’s disease (CD) is rare in pediatric patients. It is characterized by elevated plasma adrenocorticotropic hormone (ACTH) from pituitary adenomas, with damage to multiple systems and development. In recent years, genetic studies have shed light on the etiology and several mutations have been identified in patients with CD. Case presentation A girl presented at the age of 10 years and 9 months with facial plethora, hirsutism and acne. Her vision and eye movements were impaired. A quick weight gain and slow growth were also observed. Physical examination revealed central obesity, moon face, buffalo hump, supra-clavicular fat pads and bruising. Her plasma ACTH level ranged between 118 and 151 pg/ml, and sella enhanced MRI showed a giant pituitary tumor of 51.8 × 29.3 × 14.0 mm. Transsphenoidal pituitary debulk adenomectomy was performed and immunohistochemical staining confirmed an ACTH-secreting adenoma. Genetic analysis identified a novel germline GPR101 (p.G169R) and a somatic USP8 (p. S719del) mutation. They were hypothesized to impact tumor growth and function, respectively. Conclusions We reported a rare case of pediatric giant pituitary ACTH adenoma and pointed out that unusual concurrent mutations might contribute to its early onset and large volume. |
| Related Links | https://bmcendocrdisord.biomedcentral.com/counter/pdf/10.1186/s12902-022-01058-8.pdf |
| Ending Page | 5 |
| Page Count | 5 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14726823 |
| DOI | 10.1186/s12902-022-01058-8 |
| Journal | BMC Endocrine Disorders |
| Issue Number | 1 |
| Volume Number | 22 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2022-06-06 |
| Access Restriction | Open |
| Subject Keyword | Endocrinology Metabolic Diseases Diabetes Andrology GPR101 USP8 Cushing’s disease Invasive Pediatric |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Endocrinology, Diabetes and Metabolism |
| Journal Impact Factor | 2.8/2023 |
| 5-Year Journal Impact Factor | 3.1/2023 |
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