É um tipo de Síndrome de Cushing que acontece quando há uma produção excessiva do hormônio ACTH. Essa produção em excesso de ACTH é causada por um tumor que não fica na glândula hipófise, e que pode ser benigno (não canceroso) ou, mais frequentemente, maligno (canceroso).
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É um tipo de Síndrome de Cushing que acontece quando há uma produção excessiva do hormônio ACTH. Essa produção em excesso de ACTH é causada por um tumor que não fica na glândula hipófise, e que pode ser benigno (não canceroso) ou, mais frequentemente, maligno (canceroso).
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Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.
This report presents a case of a middle-aged man who was incidentally diagnosed with a gallbladder (GB) mass. Though he had some features of Cushing syndrome (CS), including those due to mineralocorticoid effects (persistent hypokalaemia), the classical features were absent. Abdominal CT scan showed a large mass arising from the GB with liver and lymph node metastasis. Biochemical evaluation confirmed adrenocorticotropic hormone (ACTH)-dependent CS. A biopsy from the mass revealed a poorly differentiated neuroendocrine carcinoma. The patient was started on ketoconazole and appropriate management for other complications. Chemotherapy was poorly tolerated and hence discontinued. The patient eventually succumbed to his illness. This case illustrates how the absence of classical Cushingoid features can mask ectopic ACTH secretion, with persistent unexplained hypokalaemia serving as a key diagnostic clue in our case. It also emphasises the difficulty of identifying a neuroendocrine tumour arising from a rare, unsuspected primary site.
Ectopic ACTH production from oesophageal neuroendocrine carcinoma causing Cushing syndrome.
Ectopic Cushing syndrome (ECS) occurs when a non-pituitary tumour secretes excess adrenocorticotropic hormone, leading to hypercortisolism. ECS is most commonly associated with small cell lung cancer and pancreatic neuroendocrine tumours, but rarely with oesophageal neuroendocrine carcinoma (NEC). We report the case of a man in the 60s initially treated for locally advanced large cell NEC of the oesophagus who later developed ECS. Oesophageal NECs account for less than 0.04% of all neuroendocrine tumours and carry a poor prognosis, with large cell subtype being particularly uncommon. Despite endocrine-directed therapy, the condition of the patient deteriorated rapidly due to aggressive disease. This case underscores the diagnostic challenges of ECS in rare tumour types and highlights the importance of early recognition and multidisciplinary management to optimise outcomes.
The Clinical Spectrum and Management of Ectopic Cushing's Syndrome: A 12-Year Single-Center Experience.
Ectopic Cushing's syndrome is a severe endocrine disorder with high morbidity and mortality, making timely diagnosis and effective cortisol control crucial. The aim of this study was to assess the 12-year experience at a tertiary centre.We retrospectively analyzed clinical, biochemical, imaging, treatment, and outcome data in this single-center, non-interventional cohort of patients treated from 2012 to 2024 at the University Hospital Centre Zagreb.Twelve patients were included (10/12 female, 83.3%; median age 43.5 years, range 22-74). Primary tumors were predominantly neuroendocrine (8/12, 66.7%), and 9/12 (75.0%) had metastatic disease at diagnosis. Common features were fat redistribution in 10/12 (83.3%), facial plethora in 8/12 (66.7%), hypertension in 8/12 (66.7%), and peripheral edema in 7/12 (58.3%). Frequent biochemical alterations were hypokalemia in 11/12 (91.7%) and hyperglycemia or new-onset/worsening diabetes in 10/12 (83.3%). Median 24-hour urinary free cortisol was 5,594 nmol/24 h (range: 196-72,954), and ACTH 52.4 pmol/L (range: 8-498). A urinary free cortisol level≥50×the upper limit of normal identified a high-risk group with shorter survival (Spearman ρ=-0.50). Biochemical remission was achieved in 1/12 (8.3%) patient through tumor resection, while the majority required bilateral adrenalectomy (8/12, 66.7%) due to inadequate response to medical therapy or as first-line treatment. At the time of last follow-up, 8/12 (66.7%) patients had died due to disease progression, with a median time to death of 12 months (range: 1-51). The median overall survival was 20 months (range: 1-154).Most patients presented with metabolic disturbances and limited response to medical therapy, leading to bilateral adrenalectomy. Early mortality was driven by uncontrolled hypercortisolism rather than tumor burden, and higher urinary free cortisol was associated with shorter survival. These findings highlight the prognostic relevance of cortisol burden and the importance of prompt cortisol control.
Ectopic Cushing Syndrome Due to a Large Mediastinal Neuroendocrine Tumor.
Ectopic Cushing syndrome is an uncommon cause of hypercortisolism that needs rapid recognition and treatment to reduce complications. Here, we present the case of a 33-year-old man with a 1-year history of severe Cushing syndrome. Biochemical findings showed both high ACTH and 24-hour urine free cortisol, and nonsuppressed morning serum cortisol. The 18fluorine-1,4,7-triazacyclononane-1,4,7-triacetate-octreotide positron emission tomography/computed tomography revealed a large mediastinal tumor with high uptake. Initial biopsy reported a grade 1 neuroendocrine tumor with positive ACTH immunostaining. Treatment was initiated with ketoconazole and somatostatin analog. To achieve rapid Cushing syndrome control, etomidate intravenous infusion was started. After multidisciplinary assessment and because of high surgical risk (concern for airway compromise from tumor location above the trachea, size, and possible mechanical lung compression with laparoscopic adrenalectomy) debulking surgery of the primary tumor was performed first, followed by bilateral adrenalectomy. Pathology findings of the R2 tumor showed a higher grade tumor than previously reported and an 18 Fluorodeoxyglucose positron emission tomography/computed tomography demonstrated distant metastatic disease. In summary, severe hypercortisolism usually occurs in the setting of ectopic production, it can be debilitating with increased mortality, and in this case, tumor aggressiveness and location made management particularly challenging, requiring a multidisciplinary approach.
Challenges of pediatric ectopic ACTH syndrome from sacrococcygeal teratoma.
Ectopic ACTH syndrome (EAS) is a rare cause of Cushing's syndrome, especially in children, and has been only exceptionally linked to sacrococcygeal teratomas (SCTs). We report a pediatric case of SCT-associated EAS and review the literature to highlight diagnostic challenges and management strategies. A 13-year-old girl presented with hypertension, hypokalemia, hyperglycemia, and rapid weight gain. Biochemical testing confirmed ACTH-dependent hypercortisolism, while pituitary MRI was negative. Pelvic CT revealed a 5.1 cm presacral mass. PET/CT based on ^18F-FDG showed only mild glucose uptake (SUVmax 3.26) in the mass, whereas ^68Ga-DOTA-NOC PET/CT demonstrated intense somatostatin receptor (SSTR) expression (SUVmax 55.86). Laparoscopic resection identified a mature teratoma containing a well-differentiated neuroendocrine tumor (NET G1) positive for ACTH and SSTR2. Postoperatively, cortisol/ACTH levels normalized, and metabolic abnormalities resolved with 9-month follow-up showing no recurrence. This report describes the first adolescent case of EAS due to a neuroendocrine tumor within a sacrococcygeal teratoma. Complementary PET/CT on FDG metabolism and SSTR expression is critical for localizing occult neuroendocrine components. Complete tumor resection and multidisciplinary collaboration are key to favorable outcomes, expanding the spectrum of pediatric EAS and providing valuable insight into its evaluation and management.
Publicações recentes
Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.
The Clinical Spectrum and Management of Ectopic Cushing's Syndrome: A 12-Year Single-Center Experience.
Ectopic Cushing Syndrome Due to a Large Mediastinal Neuroendocrine Tumor.
Challenges of pediatric ectopic ACTH syndrome from sacrococcygeal teratoma.
A rare case of ectopic cushing's syndrome caused by renal neuroendocrine tumor.
📚 EuropePMC6 artigos no totalmostrando 198
Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.
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BMC endocrine disordersEctopic ACTH-Dependent Cushing's Syndrome Emerging at a Late Stage of a Mixed Histology Neuroendocrine Neoplasm: A Case Report.
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European journal of endocrinologyCushing syndrome in paediatric population: who and how to screen.
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Oncology lettersACTH-producing adrenocortical carcinoma: an exceedingly rare diagnosis.
Journal of the Egyptian National Cancer InstituteDiagnostic performance of various imaging modalities in localizing ectopic ACTH syndrome: A systematic review.
Annales d'endocrinologieCase report: A challenging case of severe Cushing's syndrome in the course of metastatic thymic neuroendocrine carcinoma with a synchronous adrenal tumor.
Frontiers in endocrinologyEvaluating the usefulness of plasma chromogranin A measurement in cyclic ACTH-dependent Cushing's syndrome.
Endocrine journalA Rare Cyclic Cushing Syndrome Mystery Illustrates Diagnostic Principles.
JCEM case reportsEctopic adrenocortical adenoma characterized by hypogonadism: a case report and review of the literature.
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CureusComplete remission of hypercortisolemia in a patient with severe ectopic Cushing syndrome caused by small-cell lung cancer.
Polish archives of internal medicineCushing Syndrome Due to a Corticotropin-Releasing Hormone- and Adrenocorticotropic Hormone-Secreting Silent Pheochromocytoma.
AACE clinical case reportsDifficult Diagnosis and Management of Concealed Cushing.
Endocrine, metabolic & immune disorders drug targetsBiochemical Control in Cushing's Syndrome: Outcomes of the Treatment in a Large Single Center Cohort.
The Journal of clinical endocrinology and metabolism[A rare cause of hypercorticism: ACTH-secreting pheochromocytoma (a case report)].
The Pan African medical journalA Case Report of Bilateral Adrenal Gland Stereotactic Body Radiotherapy to Manage Hypercortisolemia in a Patient With Ectopic Adrenocorticotropic Hormone (ACTH) Production From a Metastatic Pancreatic Neuroendocrine Tumor.
CureusHypokalemia Due to Ectopic Adrenocorticotropic Hormone.
WMJ : official publication of the State Medical Society of WisconsinA Case of Pancreatic Neuroendocrine Tumor with Liver Metastases Demonstrating the Possibility of Enhanced ACTH Production by the SACI Test.
Case reports in endocrinologyOlfactory Neuroblastoma Causing Cushing's Syndrome Due to the Ectopic Adrenocorticotropic Hormone (ACTH) Secretion: A Case Report.
CureusPersonalized Noninvasive Diagnostic Algorithms Based on Urinary Free Cortisol in ACTH-dependant Cushing's Syndrome.
The Journal of clinical endocrinology and metabolismBilateral inferior petrosal sinus sampling in the differential diagnosis of ACTH-dependent Cushing's syndrome: A reappraisal.
Journal of internal medicineBilateral Inferior Petrosal Sinus Sampling Without Lateralization Is Less Accurate for the Diagnosis of Cushing Disease.
Journal of the Endocrine SocietySubclinical Cushing's Disease with High-Molecular-Weight Forms of Adrenocorticotropic Hormone Production.
Case reports in endocrinologyParaneoplastic Syndromes in Neuroendocrine Prostate Cancer: A Systematic Review.
Current oncology (Toronto, Ont.)[Hypertensive Emergency as the Debut of Paraneoplastic Cushing Syndrome].
Hipertension y riesgo vascularMachine Learning May Be an Alternative to BIPSS in the Differential Diagnosis of ACTH-dependent Cushing Syndrome.
The Journal of clinical endocrinology and metabolismA challenging case of ectopic ACTH-dependent Cushing's syndrome due to medullary thyroid carcinoma.
Endokrynologia PolskaDelayed Diagnosis of Ectopic Cushing Syndrome.
JCEM case reportsPheochromocytoma With High Adrenocorticotropic Hormone Production Capacity Without Pigmentation and Cushingoid Symptoms: A Case Report With a Literature Review.
Cureus[Machine learning methods in differential diagnosis of ACTH-dependent hypercortisolism].
Problemy endokrinologiiFulminant ectopic Cushing's syndrome caused by metastatic small intestine neuroendocrine tumour - a case report and review of the literature.
Acta gastro-enterologica BelgicaClinical features and risk factors for postoperative recurrence in patients with Cushing's syndrome of different etiologies.
Scientific reportsAccuracy of the 10 μg desmopressin test for differential diagnosis of Cushing syndrome: a systematic review and meta-analysis.
Frontiers in endocrinologyEctopic adrenocorticotropic hormone-secreting pheochromocytoma with severe metabolic disturbances: A case report.
International journal of surgery case reports[Diagnostic value of bilateral inferior petrosal sinus sampling in various modifications and methods of radiation and radionuclide imaging in the diagnosis and differential diagnosis of ACTH-dependent endogenous hypercortisolism].
Problemy endokrinologiiDiverse presentations of Cushing's syndrome during pregnancy - A case series.
The Australian & New Zealand journal of obstetrics & gynaecologyA Case of an Ectopic ACTH-Producing Tumor With Adrenal Shrinkage During Osilodrostat Administration.
JCEM case reportsSecond Malignancy Masquerading as Recurrence of Neuroendocrine Tumor.
JCEM case reportsTwo cases of pancreatic neuroendocrine tumors with ectopic ACTH syndrome during their disease course.
Clinical journal of gastroenterologyIs [68Ga]Ga-DOTA-TATE PET/CT useful in the diagnosis of patients suspected of ectopic Cushing's syndrome?
Endokrynologia PolskaHigh prevalence of venous thrombotic events in Cushing's syndrome: data from ERCUSYN and details in relation to surgery.
European journal of endocrinologyA clinical perspective on ectopic Cushing's syndrome.
Trends in endocrinology and metabolism: TEMAdrenocorticotropin-Dependent Ectopic Cushing's Syndrome: A Case Report.
CureusProlonged adrenal insufficiency following discontinuation of osilodrostat treatment for intense hypercortisolism.
European journal of endocrinologyCushing's syndrome caused by ACTH precursors secreted from a pancreatic yolk sac tumor in an adult-a case report and literature review.
Frontiers in medicinePaediatric Cushing syndrome: a prospective, multisite, observational cohort study.
The Lancet. Child & adolescent healthFalse-Negative Inferior Petrosal Sinus Sampling in Young-Onset Cushing Disease: What Happens Next.
Hormone research in paediatricsEctopic Hormonal Syndromes: Cushing's Syndrome and Acromegaly.
Archives of medical researchA Challenging Case of Ectopic Adrenocorticotropin Hormone Syndrome with Bronchial Carcinoid and Literature Review.
Journal of clinical research in pediatric endocrinologyAdrenocorticotropic hormone-secreting phaeochromocytoma as a cause of treatment-resistant hypertension and recurrent pulmonary emboli.
The journal of the Royal College of Physicians of EdinburghManagement of small cell lung cancer complicated with paraneoplastic Cushing's syndrome: a systematic literature review.
Frontiers in endocrinologySuccessful Management of Cushing Syndrome From Ectopic ACTH Secretion in an Adolescent With Osilodrostat.
JCEM case reportsCushing Syndrome due to a Pancreatic Neuroendocrine Tumor Treated With Radiofrequency Ablation.
JCEM case reportsThe Elusive Neuroendocrine Tumor: Finding the Ectopic ACTH Source 16 Years After the Diagnosis of Cushing Syndrome.
JCEM case reportsLong-term Treatment With Metyrapone in a Man With Ectopic Cushing Syndrome.
JCEM case reportsPancreatic ACTH Hypersecretion and Pituitary Macroadenoma.
JCEM case reportsClival Ectopic Pituitary Adenoma Causing Cushing Syndrome.
JCEM case reportsBilateral inferior petrosal sinus sampling: validity, diagnostic accuracy in lateralization of pituitary microadenoma, and treatment in eleven patients with Cushing's syndrome - a single-center retrospective cohort study.
BMC endocrine disordersEctopic Adrenocorticotropic Hormone-Producing Metastatic Gastrinoma: A Case Report.
CureusSertoli leydig cell tumor of the ovary in a woman with cushing syndrome: A case report.
Gynecologic oncology reportsPaediatric and adolescent ectopic Cushing's syndrome: systematic review.
European journal of endocrinologyACTH-Producing Neuroendocrine Carcinoma of the Liver with Cushing's Syndrome.
Case reports in oncological medicineEctopic adrenocorticotropic hormone (ACTH) syndrome: two case reports.
Neuro endocrinology lettersACTH-producing small cell neuroendocrine carcinoma from the gallbladder: a case report and literature review.
Frontiers in endocrinologyEctopic Cushing's syndrome from a corticotropin-releasing hormone-secreting medullary thyroid carcinoma: a rare pitfall of inferior petrosal sinus sampling.
Endocrinology, diabetes & metabolism case reportsPulmonary Mucoepidermoid Carcinoma With Multiple Paraneoplastic Syndromes.
CureusImpact of Cushing's syndrome on the gonadotrope axis and testicular functions in men.
Human reproduction (Oxford, England)Elevated Serum Androstenedione Level in a Patient With Ectopic Adrenocorticotropic Hormone Syndrome.
AACE clinical case reportsHeterogeneity of TPIT expression in ACTH-secreting extra-pituitary neuroendocrine tumors (NETs) supports the existence of different cellular programs in pancreatic and pulmonary NETs.
Virchows Archiv : an international journal of pathologyToward Optimized and Cost-Efficient Protocols for Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing Disease.
NeurosurgeryACTH-secreting pancreatic neuroendocrine neoplasms: A case-series.
Journal of neuroendocrinologyA Double-Headed Physiologic Monster: A Case Report and Literature Review.
Cureus[Infectious pneumonia favored by paraneoplastic Cushing syndrome in a pulmonary carcinoid tumor].
Revue des maladies respiratoiresEnhancing Cushing's disease diagnosis: exploring the impact of desmopressin on ACTH gradient during BIPSS.
Frontiers in endocrinologyEmerging diagnostic methods and imaging modalities in cushing's syndrome.
Frontiers in endocrinologyOvine CRH Stimulation and 8 mg Dexamethasone Suppression Tests in 323 Patients With ACTH-Dependent Cushing's Syndrome.
The Journal of clinical endocrinology and metabolismCushing's syndrome as a paraneoplastic feature of renal cell carcinoma: A case report.
Urology case reportsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Gallbladder neuroendocrine carcinoma: a rare cause of ectopic ACTH secretion.
- Ectopic ACTH production from oesophageal neuroendocrine carcinoma causing Cushing syndrome.
- The Clinical Spectrum and Management of Ectopic Cushing's Syndrome: A 12-Year Single-Center Experience.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association· 2026· PMID 41786303mais citado
- Ectopic Cushing Syndrome Due to a Large Mediastinal Neuroendocrine Tumor.
- Challenges of pediatric ectopic ACTH syndrome from sacrococcygeal teratoma.
- A rare case of ectopic cushing's syndrome caused by renal neuroendocrine tumor.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99889(Orphanet)
- MONDO:0020527(MONDO)
- GARD:19698(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q32136799(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
