Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations

Detomas M, Altieri B, Schlötelburg W, Appenzeller S, Schlaffer SM, Coras R, Schirbel A, Wild V, Kroiss M, Sbiera S, Fassnacht M, Deutschbein T (2021)

Publication Type: Journal article

Publication year: 2021

Journal

Frontiers in Endocrinology Frontiers Media

Book Volume: 12

Article Number: 731579

DOI: 10.3389/fendo.2021.731579

Abstract

The occurrence of different subtypes of endogenous Cushing’s syndrome (CS) in single individuals is extremely rare. We here present the case of a female patient who was successfully cured from adrenal CS 4 years before being diagnosed with Cushing’s disease (CD). The patient was diagnosed at the age of 50 with ACTH-independent CS and a left-sided adrenal adenoma, in January 2015. After adrenalectomy and histopathological confirmation of a cortisol-producing adrenocortical adenoma, biochemical hypercortisolism and clinical symptoms significantly improved. However, starting from 2018, the patient again developed signs and symptoms of recurrent CS. Subsequent biochemical and radiological workup suggested the presence of ACTH-dependent CS along with a pituitary microadenoma. The patient underwent successful transsphenoidal adenomectomy, and both postoperative adrenal insufficiency and histopathological workup confirmed the diagnosis of CD. Exome sequencing excluded a causative germline mutation but showed somatic mutations of the β-catenin protein gene (CTNNB1) in the adrenal adenoma, and of both the ubiquitin specific peptidase 8 (USP8) and the glucocorticoid receptor (NR3C1) genes in the pituitary adenoma. In conclusion, our case illustrates that both ACTH-independent and ACTH-dependent CS may develop in a single individual even without evidence for a common genetic background.

Authors with CRIS profile

Sven-Martin Schlaffer Department of Neurosurgery Roland Coras Institute of Neuropathology

Involved external institutions

Universitätsklinikum Würzburg DE Germany (DE)

How to cite

APA:

Detomas, M., Altieri, B., Schlötelburg, W., Appenzeller, S., Schlaffer, S.-M., Coras, R.,... Deutschbein, T. (2021). Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations. Frontiers in Endocrinology, 12. https://doi.org/10.3389/fendo.2021.731579

MLA:

Detomas, Mario, et al. "Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations." Frontiers in Endocrinology 12 (2021).

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