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Ectopic ACTH Syndrome

Cushing's Syndrome


Presentation

  • Ectopic ACTH syndrome from small cell carcinoma often presents with hypokalemia, metabolic alkalosis and muscle wasting. This patient presented with Cushingnoid features which is unusual in such cases.[ncbi.nlm.nih.gov]
  • Afterwards, he presented hormonal normalization, normal catecholamines levels, and clinical improvement. Histological tissue analysis confirmed pheochromocytoma.[ncbi.nlm.nih.gov]
  • Small-cell lung cancer presenting as ectopic adrenocorticotropic hormone (ACTH) syndrome associated with hypothyroidism and hypogonadotropic hypogonadism is clinically very rare.[ncbi.nlm.nih.gov]
  • In this mini-review, we present a patient presenting to our department with a pheochromocytoma as well as Cushing's syndrome due to ectopic ACTH secretion by the pheochromocytoma, and we discuss published cases in the world literature to assess its significance[ncbi.nlm.nih.gov]
  • Expert opinion and a consensus statement on Cushing syndrome (CS) indicate that in a patient with a clinical presentation and biochemical studies consistent with a pituitary etiology, the presence of a pituitary tumor 6 mm is highly suggestive of Cushing[ncbi.nlm.nih.gov]
Rectal Mass
  • A 25-year-old black homosexual was noted to be hypertensive, hypokalemic, and to have a rectal mass. Histopathology of the biopsied lesion revealed a mixture of poorly differentiated squamous cell and undifferentiated small cell carcinoma.[ncbi.nlm.nih.gov]

Workup

  • The diagnostic workup is difficult, can last more than 6 months ( 50% of cases), and the underlying tumour is still frequently not located (12%).[ncbi.nlm.nih.gov]
  • We describe a 34-year-old female patient and discuss the complex diagnostic workup that led to the rare diagnosis of carcinoid of the appendix as the cause of Cushing's syndrome.[ncbi.nlm.nih.gov]
  • EAS requires a complete workup that includes the establishment of endogenous CS, diagnosis of adrenocorticotropic hormone (ACTH) dependency, localization of the source of ACTH secretion and rapid biochemical control of hypercortisolaemia.[ncbi.nlm.nih.gov]
  • […] tumours adrenocorticotropin (ACTH)-independent macronodular adrenocortical hyperplasia (AIMAH) : rare cause of ACTH-independent Cushing syndrome 4 corticotropin-releasing hormone-secreting tumour: very rare hypothalamic tumours ectopic production The workup[radiopaedia.org]
  • Approximately 12% to 19% of tumors are not identified despite extensive workup. 16 In our patient’s case, we were able to see multiple small lesions on the liver during imaging, which helped us diagnose the condition.[consultant360.com]
Anterior Mediastinal Mass
  • For all six patients, the high dose (8 mg) dexamethasone suppression test (HDDST) showed lack of suppression, computed tomography (CT) scanning documented anterior mediastinal masses, and the mediastenal tumors removed were confirmed as ACTH secreting[ncbi.nlm.nih.gov]
  • Six to 14 months after remission of hypercortisolism, follow-up computed tomography or magnetic resonance imaging of the thorax revealed in all five patients an anterior mediastinal mass 3-5 cm in length that suggested a thymic carcinoma.[ncbi.nlm.nih.gov]
Enlargement of the Liver
  • A computed tomographic (CT) scan revealed intact pituitary and enlarged adrenal glands. Liver metastases were seen but the primary neoplasm was not found. Treatment with aminoglutethimide and other therapeutic measures were unsuccessful.[ncbi.nlm.nih.gov]

Treatment

  • The treatment consisted of surgical removal of the mass supplemented by radiotherapy. The results showed that after treatment all patients had satisfactory remission.[ncbi.nlm.nih.gov]
  • MTP treatment was started to reduce cortisol production. ACTH levels and cortisol and UFC levels were normalised and the ACTH-producing lung tumour was ablated after MTP treatment.[ncbi.nlm.nih.gov]
  • The patient presented cachexia and developed multiple pulmonary abscesses that also prevented surgical treatment, thus he was treated with percutaneous ethanol injection guided by CT of the left adrenal tumor.[ncbi.nlm.nih.gov]
  • Long-term treatment of ectopic ACTH-induced hypercortisolemia by blocking adrenal steroidogenesis is clinically effective and well tolerated.[ncbi.nlm.nih.gov]
  • The key points to increase treatment effect include early detection, localization and resection of primary tumors.[ncbi.nlm.nih.gov]

Prognosis

  • Etiologies, clinical, biochemical and radiological features, prognosis, and treatment were described.[ncbi.nlm.nih.gov]
  • Small cell lung cancer (SCLC) with ectopic adrenocorticotropic hormone (ACTH) syndrome and resultant hypercortisolism carries a poor prognosis with a short median survival and high incidence of infective complications.[ncbi.nlm.nih.gov]
  • It should be pointed out that the prognosis of bronchial carcinoids is good while that of thymic carcinoids is relatively poor.[ncbi.nlm.nih.gov]
  • Thymic carcinoid is an important component of the tumor spectrum causing Ectopic ACTH Syndrome (EAS) and usually carries a poor prognosis.[ncbi.nlm.nih.gov]
  • These patients have a poor prognosis because SCLC associated with the EAS is more resistant to chemotherapy and the severe hypercortisolism is responsible for a high rate of life-threatening complications during treatment.[ncbi.nlm.nih.gov]

Etiology

  • However, the 6-mm tumor size cut-off value provided 96% specificity and may be a reasonable threshold to proceed with surgery without the need for IPSS when the biochemical data support a pituitary etiology.[ncbi.nlm.nih.gov]
  • The etiology of the ectopic ACTH syndrome, associated with certain tumors, is unclear. The ectopic ACTH syndrome was diagnosed in our patient by the characteristic clinical and laboratory findings.[ncbi.nlm.nih.gov]
  • Etiologies, clinical, biochemical and radiological features, prognosis, and treatment were described.[ncbi.nlm.nih.gov]
  • It also provides state-of-the-art information on various strategies to establish the diagnosis of Cushing’s syndrome and the differential diagnosis among its diverse etiologies, as well as therapeutic approaches.[books.google.com]
  • In 12% the primary etiology was not detected. The rare syndrome of ectopic CRH syndrome (6 published cases) leading to excessive stimulation of the pituitary which became hyperplastic and secreted excessive amounts of ACTH is discussed.[ncbi.nlm.nih.gov]

Epidemiology

  • Although diagnostic evaluation is similar to that in adults, the variation in epidemiology may sway investigations, leading to inappropriate and/or incomplete diagnostic interventions.[ncbi.nlm.nih.gov]
  • J Clin Endocrinol Metab 85:637, 2000 [PMID:10690869] Etxabe J, Vazquez JA: Morbidity and mortality in Cushing's disease: an epidemiological approach.[hopkinsguides.com]
  • In this article arrow-down Epidemiology arrow-down Common causes arrow-down Presentation arrow-down Differential diagnosis arrow-down Investigations arrow-down Management arrow-down Complications arrow-down Prognosis Synonym: hypercortisolism Cushing's[patient.info]
  • Ectopic CRH secretion leading to increased ACTH secretion comprises a very rare group of cases of Cushing syndrome. [4] Epidemiology Identifying the exact incidence of Cushing syndrome is challenging because patients can present with a wide spectrum from[emedicine.medscape.com]
  • One hundred years after “carcinoid”: epidemiology of and prognostic factors for neuroendocrine tumors in 35,825 cases in the United States. J Clin Oncol . 2008;26(18):3063–3072. 7. Travis W, Brambilla E, Müller-Hermelink H, Harris C, editors.[dovepress.com]
Sex distribution
Age distribution

Pathophysiology

  • Despite the progress achieved in elucidating the pathophysiology of Cushing's syndrome, clinicians continue to experience diagnostic and therapeutic challenges.[ncbi.nlm.nih.gov]
  • Cushing’s Syndrome: Pathophysiology, Diagnosis and Treatment reviews the difficulties in distinguishing Cushing’s syndrome from these and other common conditions, such as central obesity, menstrual irregularity and depression.[books.google.com]
  • This Second Edition has been thoroughly updated with the latest information on pathophysiology, treatment, and drug dosing. New chapters cover obesity, vitamin D deficiency, autoimmune polyendocrine syndromes, and endocrine disorders in HIV/AIDS.[books.google.com]
  • Study group of the Italian Society of Endocrinology on the pathophysiology of the hypothalamic-pituitaryadrenal axis. J Clin Endocrinol Metab. 1999;84:440–8. CrossRef PubMed Google Scholar 29.[link.springer.com]
  • Invitti C, Pecori Giraldi F, Cavagnini F, the Study Group of the Italian Society of Endocrinology on the Pathophysiology of the Hypothalamic-Pituitary-Adrenal Axis.[link.springer.com]

Prevention

  • The patient presented cachexia and developed multiple pulmonary abscesses that also prevented surgical treatment, thus he was treated with percutaneous ethanol injection guided by CT of the left adrenal tumor.[ncbi.nlm.nih.gov]
  • Our case indicates that in addition to prophylaxis, the early diagnosis of PCP and the slow correction of hypercortisolemia should be considered in order to prevent an exacerbation due to the reconstitution of the immune function in patients with ectopic[ncbi.nlm.nih.gov]
  • Hypercortisolaemia was controlled with metyrapone and ketoconazole, but high doses of octreotide failed to affect plasma cortisol and urinary 5-hydroxyindole acetic acid (5HIAA) levels, or prevent rapid tumour growth.[ncbi.nlm.nih.gov]
  • Management of these patients demands an aggressive evaluation to prevent unnecessary adrenalectomy or hypophysectomy and to allow earlier resections before these potentially curable malignancies metastasize.[ncbi.nlm.nih.gov]
  • Prevention: Prompt treatment of tumors may reduce the risk in some cases. Many cases are not preventable.[uclahealth.org]

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