ArticlePituitary2022
Responsiveness to DDAVP in Cushing's disease is associated with USP8 mutations through enhancing AVPR1B promoter activity.
Article in Pituitary, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Consensus on the diagnosis of Cushing's disease: a collaborative statement from the Korean Endocrine Society and Japan Endocrine Society.Endocrine journal · 2026Article
- Article
- Glucocorticoid Resistance Syndrome as a Hidden Cause of Nonneoplastic Hypercortisolism.Journal of the Endocrine Society · 2025Article
- Management of Cushing's disease in the initial phase~From detection to surgery~.Endocrine journal · 2025Review
- Clinical Implications of Molecular and Genetic Biomarkers in Cushing's Disease: A Literature Review.Journal of clinical medicine · 2025Review
- USP34 regulates endothelial PAR1 mRNA transcript expression and cellular signaling.Molecular biology of the cell · 2025Article
- Mutual associations among responsiveness to differential diagnostic tests for Cushing's disease, tumor size, and somatostatin receptor 5 expression in corticotroph tumors.Endocrine journal · 2025Article
- ACTH-dependent Cushing Syndrome with No Peripheral Response But a Marked Petrosal Sinus ACTH Response to Desmopressin.JCEM case reports · 2024Article
- Review
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
purposeTo clarify the characteristics of Cushing's disease (CD) patients who respond to the desmopressin (DDAVP) test and its underlying mechanisms.
methodsForty-seven patients with CD who underwent DDAVP testing were included. Patients were divided into two groups: DDAVP test (+) (adrenocorticotropic hormone [ACTH] levels increased by ≥ 1.5-fold during the DDAVP test) and DDAVP test (-) (ACTH levels increased by < 1.5-fold). AVP receptor expression levels in these tumors were quantified using quantitative RT-PCR and immunohistochemistry. AVP receptor promoter activity was analyzed using a dual-luciferase reporter assay system.
resultsFemales (96.9%) and USP8 mutants (85.7%) were more prevalent in the DDAVP test (+) than in the DDAVP test (-). Indeed, the ACTH and cortisol responsiveness to DDAVP was greater in USP8 mutation positive tumors than that in USP8 wild type tumors (3.0-fold vs. 1.3-fold, 1.6-fold vs. 1.1-fold, respectively). Responsiveness to DDAVP was correlated with the expression levels of AVPR1B, but not with those of AVPR2. Comparably, Avpr1b promoter activity was enhanced by the overexpression of mutant USP8 compared to the wild type.
conclusionsWe found that the responsiveness of ACTH to DDAVP in CD was greater in tumors with USP8 mutations. The present data suggest that USP8 mutations upregulate the AVPR1B promoter activity. Additionally, we showed that the DDAVP test can predict the presence of USP8 mutations.
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