ECE2021 Audio Eposter Presentations Late Breaking (114 abstracts)
Consecutive development of adrenal Cushing´s syndrome and Cushing´s disease in a female patient with somatic CTNNB1, USP8, and NR3C1 mutations
Mario Detomas 1 , Barbara Altieri 1 , Schlötelburg Wiebke 2 , 3 , Silke Appenzeller 4 , Sven-Martin Schlaffer 5 , Coras Roland 6 , Schirbel Andreas 3 , Vanessa Wild 7 , Matthias Kroiss 1 , 8 , Silviu Sbiera 1 , Martin Fassnacht 1 & Timo Deutschbein & 9
1University Hospital of Würzburg, Department of Internal Medicine I, Division of Endocrinology and Diabetes, Würzburg, Germany; 2University Hospital of Würzburg, Department of Diagnostic and Interventional Radiology, Würzburg, Germany; 3University Hospital of Würzburg, Department of Nuclear Medicine, Würzburg, Germany; 4University Hospital of Würzburg, Core Unit Bioinformatics, Comprehensive Cancer Center Mainfranken, Würzburg, Germany; 5, University Hospital Erlangen, Department of Neurosurgery, Erlangen, Germany; 6University Hospital Erlangen, Department of Neuropathology, Erlangen, Germany; 7University Hospital of Würzburg, Institute of Pathology, Würzburg, Germany; 8University Hospital Munich, Ludwig-Maximilians-Universität, Department of Internal Medicine IV, Munich, Germany; 9Medicover Oldenburg MVZ, Oldenburg,
Context
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).
Case Description
A 50-year-old female was diagnosed 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 micoradenoma. 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.
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.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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