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Article

Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report.

BMC endocrine disorders - 6 Jun 2022

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 excerpt

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...

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Identifiers

PMID: 35668434
DOI: 10.1186/s12902-022-01058-8
PMCID: PMC9169391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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