Mario Detomas Barbara Altieri Wiebke Schlötelburg Silke Appenzeller Sven Schlaffer Roland Coras Andreas Schirbel Vanessa Wild Matthias Kroiss Silviu Sbiera Martin Fassnacht Timo Deutschbein
10.3389/fendo.2021.731579
Front Endocrinol (Lausanne)
2021 Aug 20;12:731579.
ctnnb1 cushing’s disease cushing’s syndrome nr3c1 usp8 glucocorticoid excess hypercortisolism
CC BY
https://pubmed.ncbi.nlm.nih.gov/34489873/
Cushing Syndrome / genetics Endopeptidases / genetics Endosomal Sorting Complexes Required for Transport / genetics Pituitary ACTH Hypersecretion / genetics Receptors, Glucocorticoid / genetics Ubiquitin Thiolesterase / genetics beta Catenin / genetics
Cushing Syndrome / genetics Endopeptidases / genetics Endosomal Sorting Complexes Required for Transport / genetics Pituitary ACTH Hypersecretion / genetics Receptors, Glucocorticoid / genetics Ubiquitin Thiolesterase / genetics beta Catenin / genetics Case Reports Research Support, Non-U.S. Gov't Adenoma / diagnosis Adenoma / genetics Adenoma / surgery Adrenal Cortex Neoplasms / diagnosis Adrenal Cortex Neoplasms / genetics Adrenal Cortex Neoplasms / surgery Adrenalectomy / adverse effects Cushing Syndrome / complications Cushing Syndrome / diagnosis Female Germany Humans Middle Aged Mutation Pituitary ACTH Hypersecretion / complications Pituitary ACTH Hypersecretion / diagnosis CTNNB1 protein, human Endosomal Sorting Complexes Required for Transport NR3C1 protein, human Receptors, Glucocorticoid beta Catenin Endopeptidases USP8 protein, human Ubiquitin Thiolesterase
PMC8417750
34489873
Case Report: Consecutive Adrenal Cushing's Syndrome and Cushing's Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations
2021