Publication: Somatic PRKACA mutations: association with transition from pituitary-dependent to adrenal-dependent Cushing's syndrome
Somatic PRKACA mutations: association with transition from pituitary-dependent to adrenal-dependent Cushing's syndrome
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Di Dalmazi, G., Timmers, H. J. L. M., Arnaldi, G., Küsters, B., Scarpelli, M., Bathon, K., Calebiro, D., Beuschlein, F., Hermus, A., & Reincke, M. (2019). Somatic PRKACA mutations: association with transition from pituitary-dependent to adrenal-dependent Cushing’s syndrome. Journal of Clinical Endocrinology & Metabolism, 104(11), 5651–5657. https://doi.org/10.1210/jc.2018-02209
Abstract
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CONTEXT
Prolonged adrenal stimulation by corticotropin, as in long-standing Cushing´s disease (CD), leads to diffuse to nodular hyperplasia. Adrenal functional autonomy has been described in a subset of patients with CD, leading to the hypothesis of transition from ACTH-dependent to ACTH-independent hypercortisolism.
OBJECTIVE
Considering that PRKACA somatic mutations are the most common finding in adrenal adenomas associated with ACTH-independent Cushing´s syndrome, our aim was to analyze PRKACA mutations in adrenals of patients w
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Creators (Authors)
- Di Dalmazi, Guido
- Timmers, Henri J L M
- Arnaldi, Giorgio
- Küsters, Benno
- Scarpelli, Marina
- Bathon, Kerstin
- Calebiro, Davide
- Beuschlein, Felix
- Hermus, Ad
- Reincke, Martin
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Di Dalmazi, G., Timmers, H. J. L. M., Arnaldi, G., Küsters, B., Scarpelli, M., Bathon, K., Calebiro, D., Beuschlein, F., Hermus, A., & Reincke, M. (2019). Somatic PRKACA mutations: association with transition from pituitary-dependent to adrenal-dependent Cushing’s syndrome. Journal of Clinical Endocrinology & Metabolism, 104(11), 5651–5657. https://doi.org/10.1210/jc.2018-02209