Pituitary and neuroendocrinology
Mario Detomas 1 , Barbara Altieri 2 , Wiebke Schlötelburg 3 , Silke Appenzeller 4 , Sven Schlaffer 5 , Roland Coras 6 , Andreas Schirbel 7 , Vanessa Wild 8 , Matthias Kroiss 9 , Silviu Sbiera 10 , Martin Fassnacht 2 & Timo Deutschbein 2
1Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital Würzburg, Würzburg, Germany; [email protected]; 2Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital Würzburg, Würzburg, Germany; 3Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, University of Würzburg, Würzburg, Germany; Department of Nuclear Medicine, University Hospital Würzburg, University of Würzburg, Würzburg, Germany; 4Core Unit Bioinformatics, Comprehensive Cancer Center Mainfranken, University Hospital of Würzburg, University of Würzburg , Würzburg, Germany; 5Department of Neurosurgery, University Hospital Erlangen, Erlangen, Germany; 6Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany; 7Department of Nuclear Medicine, University Hospital Würzburg, University of Würzburg, Würzburg, Germany8Institute of Pathology, University of Würzburg, Würzburg, Germany; 9Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital Würzburg, University of Würzburg, Würzburg, Germany; Department of Internal Medicine IV, University Hospital Munich, Ludwig-Maximilians-Universität München, Munich, Germany; 10Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital Würzburg, University of Würzburg, Würzburg, Germany; 11Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital Würzburg, University of Würzburg, Würzburg, Germany; Medicover Oldenburg MVZ, Oldenburg, Germany
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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