Learn About Ectopic Cushing's syndrome

What is the definition of Ectopic Cushing's syndrome?

Ectopic Cushing syndrome is a form of Cushing syndrome in which a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone (ACTH).

What are the alternative names for Ectopic Cushing's syndrome?

Cushing syndrome - ectopic; Ectopic ACTH syndrome; Ectopic Cushing's syndrome

What are the causes of Ectopic Cushing's syndrome?

Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone cortisol. This hormone is made in the adrenal glands. Too much cortisol can be due to various problems. One of the causes is if there is too much of the hormone ACTH in the blood. ACTH is usually made by the pituitary in small amounts and then signals the adrenal glands to produce cortisol. Sometimes other cells outside the pituitary can make large amounts of ACTH. This is called ectopic Cushing syndrome. Ectopic means that something is occurring in an abnormal place in the body.

Ectopic Cushing syndrome is caused by tumors that release ACTH. Tumors that can, in rare cases, release ACTH include:

  • Benign carcinoid tumors of the lung
  • Islet cell tumors of the pancreas
  • Medullary carcinoma of the thyroid
  • Small cell tumors of the lung
  • Tumors of the thymus gland
What are the symptoms of Ectopic Cushing's syndrome?

Ectopic Cushing syndrome can cause a lot of different symptoms. Some people have many symptoms while others have only a few. Most people with any type of Cushing syndrome have:

  • Round, red, and full face (moon face)
  • Slow growth rate in children
  • Weight gain with fat accumulation on the trunk, but fat loss from the arms, legs, and buttocks (central obesity)

Skin changes that are often seen:

  • Skin infections
  • Thick, purple stretch marks (1/2 inch or 1 centimeter or more wide) called striae on the skin of the abdomen, thighs, upper arms, and breasts
  • Thin skin with easy bruising

Muscle and bone changes include:

  • Backache, which occurs with routine activities
  • Bone pain or tenderness
  • Collection of fat between the shoulders and above the collar bone
  • Rib and spine fractures caused by thinning of the bones
  • Weak muscles, especially of the hips and shoulders

Body-wide (systemic) problems may include:

  • Type 2 diabetes mellitus
  • High blood pressure
  • High cholesterol and triglycerides

Women may have:

  • Excess hair growth on the face, neck, chest, abdomen, and thighs
  • Periods that become irregular or stop

Men may have:

  • Decreased or no desire for sex
  • Impotence

Other symptoms that may occur include:

  • Mental changes, such as depression, anxiety, or changes in behavior
  • Fatigue
  • Headache
  • Increased thirst and urination
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What are the current treatments for Ectopic Cushing's syndrome?

The best treatment for ectopic Cushing syndrome is surgery to remove the tumor that is producing too much ACTH. Surgery is usually possible when the tumor is noncancerous (benign).

In some cases, the tumor is cancerous and spreads to other areas of the body before your provider can discover the problem with cortisol production. Surgery may not be possible in these cases. But your provider may prescribe medicines to block cortisol production.

Sometimes removal of both adrenal glands is needed if the tumor cannot be found and medicines do not fully block cortisol production.

Who are the top Ectopic Cushing's syndrome Local Doctors?
Experienced in Ectopic Cushing's syndrome
Endocrinology
Experienced in Ectopic Cushing's syndrome
Endocrinology

Emory Medical Care Foundation Inc

80 Jesse Hill Jr Dr Se, 
Atlanta, GA 
 (128.4 mi)
Languages Spoken:
English
Offers Telehealth

Francisco Pasquel is an Endocrinologist in Atlanta, Georgia. Dr. Pasquel and is rated as an Experienced provider by MediFind in the treatment of Ectopic Cushing's syndrome. His top areas of expertise are Diabetic Ketoacidosis, Type 2 Diabetes (T2D), Low Blood Sugar, Diabetic Hyperglycemic Hyperosmolar Syndrome, and Coronary Artery Bypass Graft (CABG).

 
 
 
 
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What is the outlook (prognosis) for Ectopic Cushing's syndrome?

Surgery to remove the tumor may lead to full recovery. But there is a chance that the tumor will come back.

What are the possible complications of Ectopic Cushing's syndrome?

The tumor may spread or return after surgery. A high cortisol level may continue.

When should I contact a medical professional for Ectopic Cushing's syndrome?

Contact your provider if you develop symptoms of Cushing syndrome.

How do I prevent Ectopic Cushing's syndrome?

Prompt treatment of tumors may reduce the risk in some cases. Many cases are not preventable.

What are the latest Ectopic Cushing's syndrome Clinical Trials?
Prospective Evaluation of 68Ga-DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Ectopic Cushing Syndrome

Summary: Between 10% and 15% of patients with endogenous hypercortisolism (Cushing syndrome) have ectopic (non-pituitary) production of adrenocorticotropin hormone (ACTH) that causes cortisol excess. In approximately 50% of these patients, the tumoral source of ACTH cannot be found initially despite very detailed and extensive imaging, including studies such as computed tomography, magnetic resonance imagi...

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A Phase 1b/2a Open-label Multiple-ascending Dose Exploratory Study of CRN04894 in ACTH-dependent Cushing's Syndrome (Cushing's Disease or Ectopic ACTH Syndrome)

Summary: A Phase 1b/2a, first-in-disease, open-label, multiple-ascending dose exploratory study to evaluate safety, tolerability, pharmacokinetics (PK), and pharmacodynamic biomarker responses associated with CRN04894 (an adrenocorticotropic hormone \[ACTH\] receptor antagonist) in participants with ACTH-dependent Cushing's syndrome (Cushing's disease or Ectopic ACTH Syndrome \[EAS\])

Who are the sources who wrote this article ?

Published Date: May 12, 2023
Published By: Sandeep K. Dhaliwal, MD, board-certified in Diabetes, Endocrinology, and Metabolism, Springfield, VA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Newell-Price JDC, Auchus RJ. The adrenal cortex. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 15.

Nieman LK, Biller BM, Findling JW, et al. Treatment of Cushing's syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2015;100(8):2807-2831. PMID 26222757 pubmed.ncbi.nlm.nih.gov/26222757/.