ECEESPE2025 ePoster Presentations Adrenal and Cardiovascular Endocrinology (170 abstracts)
Cyclical cushing’s syndrome secondary to ectopic ACTH-secreting neuroendocrine tumor: a diagnostic and therapeutic challenge
Carolina Peixe 1,2 , Catarina Isabel Lopes 1 , José Vicente Rocha 1,2 , Mariana de Griné Severino 1 , Mariana Lopes-Pinto 1 , Marta Vaz Lopes 1 , Miguel António Duarte 1 , Ana Gomes 1,2 , Ana Paula Barbosa 1,2 , Maria Inês Alexandre 1,2 & Ema Lacerda Nobre 1,2
1Hospital de Santa Maria, ULS Santa Maria, Endocrinologia e Nutrição, Lisboa, Portugal; 2Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal
JOINT1974
Introduction: Cyclical Cushing’s Syndrome (CCS) involves alternating episodes of hypercortisolism and eucortisolism, with an annual incidence of 0.2-5.0 cases per million. Ectopic ACTH secretion accounts for 26% of CCS cases. Diagnosing and treating CCS is challenging due to its episodic nature. We present a case of CCS caused by ectopic ACTH secretion from a neuroendocrine tumor (NET).
Case Report: A 45-year-old male was diagnosed with a NET at age 39, following a transthoracic biopsy of a 127x96mm anterior mediastinal mass, incidentally, found on a CT scan. Retrospectively, the patient reported symptoms including edema, fatigue and myopathy. New-onset hypertension and hypokalemia raised suspicion for Cushing’s syndrome (CS). Laboratory tests confirmed ACTH-dependent CS, with urinary cortisol of 3510µg/24h (167–827) and ACTH of 246pg/ml (7–63). Elevated chromogranin A (1875ng/mL, <102), calcium (11.3 mg/dl, 8.6–10.2), and PTH (96.9pg/ml, <72) were also noted, with normal remaining pituitary function. The concurrent diagnosis of primary hyperparathyroidism prompted genetic testing, which ruled out multiple endocrine neoplasia type 1 (MEN-1). Resection of the mediastinal mass confirmed a NET G2 (Ki-67 of 10%) with ACTH-positive immunoreactivity, validating ectopic CS. Despite surgery, persistent local disease required treatment with somatostatin analogues, chemotherapy, and radiotherapy, though tumor progression continued. The patient also started bisphosphonate therapy for hyperparathyroidism. Postoperatively, transient reduction of hypercortisolism was observed (cortisol 215µg/24h, ACTH 40.3pg/ml). Over the following years, the patient experienced three episodes of severe hypercortisolism (peak urinary cortisol of 7365µg/24h, ACTH 154pg/ml), linked to the initiation of NET-targeted treatments (radiotherapy, chemotherapy). Management include metyrapone (up to 1600 mg/day), antihypertensives, and antidiabetics. These phases alternated with periods of eucortisolism that required no treatment. In september 2023, bilateral adrenalectomy was performed to address cyclical hypercortisolism. Postoperatively, the patient started glucocorticoid and mineralocorticoid replacement therapy, with no further treatment needed for cortisol-related comorbidities.
Conclusion: This case highlights the complexity of managing CCS, particularly due to ectopic ACTH from a NET. Bilateral adrenalectomy, though a last-resort option, resolved hypercortisolism and related comorbidities, improving quality of life. However, further management of the NET remained essential, highlighting the need for individualized therapeutic strategies in complex CCS cases.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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