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Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations
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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417750/ https://www.ncbi.nlm.nih.gov/pubmed/34489873 http://dx.doi.org/10.3389/fendo.2021.731579 |
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author | Detomas, Mario Altieri, Barbara Schlötelburg, Wiebke Appenzeller, Silke Schlaffer, Sven Coras, Roland Schirbel, Andreas Wild, Vanessa Kroiss, Matthias Sbiera, Silviu Fassnacht, Martin Deutschbein, Timo |
author_facet | Detomas, Mario Altieri, Barbara Schlötelburg, Wiebke Appenzeller, Silke Schlaffer, Sven Coras, Roland Schirbel, Andreas Wild, Vanessa Kroiss, Matthias Sbiera, Silviu Fassnacht, Martin Deutschbein, Timo |
author_sort | Detomas, Mario |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8417750 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-84177502021-09-05 Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations Detomas, Mario Altieri, Barbara Schlötelburg, Wiebke Appenzeller, Silke Schlaffer, Sven Coras, Roland Schirbel, Andreas Wild, Vanessa Kroiss, Matthias Sbiera, Silviu Fassnacht, Martin Deutschbein, Timo Front Endocrinol (Lausanne) Endocrinology 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. Frontiers Media S.A. 2021-08-20 /pmc/articles/PMC8417750/ /pubmed/34489873 http://dx.doi.org/10.3389/fendo.2021.731579 Text en Copyright © 2021 Detomas, Altieri, Schlötelburg, Appenzeller, Schlaffer, Coras, Schirbel, Wild, Kroiss, Sbiera, Fassnacht and Deutschbein https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology Detomas, Mario Altieri, Barbara Schlötelburg, Wiebke Appenzeller, Silke Schlaffer, Sven Coras, Roland Schirbel, Andreas Wild, Vanessa Kroiss, Matthias Sbiera, Silviu Fassnacht, Martin Deutschbein, Timo Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations |
title | Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations |
title_full | Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations |
title_fullStr | Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations |
title_full_unstemmed | Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations |
title_short | Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations |
title_sort | case report: consecutive adrenal cushing’s syndrome and cushing’s disease in a patient with somatic ctnnb1, usp8, and nr3c1 mutations |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417750/ https://www.ncbi.nlm.nih.gov/pubmed/34489873 http://dx.doi.org/10.3389/fendo.2021.731579 |
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