Cushing disease is estimated to occur in 10 to 15 per million people worldwide. For reasons that are unclear, Cushing disease affects females more often than males. CausesThe genetic cause of Cushing disease is often unknown. In only a few instances, mutations in certain genes have been found to lead to Cushing disease. These genetic changes are called somatic mutations. They are acquired during a person's lifetime and are present only in certain cells. The genes involved often play a role in regulating the activity of hormones. Cushing disease is caused by an increase in the hormone cortisol , which helps maintain blood sugar levels, protects the body from stress, and stops (suppresses) inflammation. Cortisol is produced by the adrenal glands, which are small glands located at the top of each kidney. The production of cortisol is triggered by the release of a hormone called adrenocorticotropic hormone (ACTH) from the pituitary gland, located at the base of the brain. The adrenal and pituitary glands are part of the hormone-producing (endocrine) system in the body that regulates development, metabolism, mood, and many other processes.Cushing disease occurs when a noncancerous (benign) tumor called an adenoma forms in the pituitary gland, causing excessive release of ACTH and, subsequently, elevated production of cortisol. Prolonged exposure to increased cortisol levels results in the signs and symptoms of Cushing disease: changes to the amount and distribution of body fat, decreased muscle mass leading to weakness and reduced stamina, thinning skin causing stretch marks and easy bruising, thinning of the bones resulting in osteoporosis, increased blood pressure, impaired regulation of blood sugar leading to diabetes, a weakened immune system, neurological problems, irregular menstruation in women, and slow growth in children. The overactive adrenal glands that produce cortisol may also produce increased amounts of male sex hormones (androgens), leading to hirsutism in females. The effect of the excess androgens on males is unclear. Most often, Cushing disease occurs alone, but rarely, it appears as a symptom of genetic syndromes that have pituitary adenomas as a feature, such as multiple endocrine neoplasia type 1 (MEN1) or familial isolated pituitary adenoma (FIPA). Cushing disease is a subset of a larger condition called Cushing syndrome, which results when cortisol levels are increased by one of a number of possible causes. Sometimes adenomas that occur in organs or tissues other than the pituitary gland, such as adrenal gland adenomas , can also increase cortisol production, causing Cushing syndrome. Certain prescription drugs can result in an increase in cortisol production and lead to Cushing syndrome. Sometimes prolonged periods of stress or depression can cause an increase in cortisol levels; when this occurs, the condition is known as pseudo-Cushing syndrome. Not accounting for increases in cortisol due to prescription drugs, pituitary adenomas cause the vast majority of Cushing syndrome in adults and children.InheritanceMost cases of Cushing disease are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. The various syndromes that have Cushing disease as a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Other Names for This Condition- Hypercortisolism
- Pituitary ACTH hypersecretion
- Pituitary Cushing syndrome
- Pituitary-dependant Cushing syndrome
- Pituitary-dependant hypercortisolism
- Pituitary-dependant hypercortisolism disorder
- Genetic Testing Registry: Pituitary dependent hypercortisolism
Patient Support and Advocacy Resources- Disease InfoSearch
- National Organization for Rare Disorders (NORD)
Research Studies from ClinicalTrials.govCatalog of Genes and Diseases from OMIM- PITUITARY ADENOMA 4, ACTH-SECRETING
Scientific Articles on PubMedReferences- Drouin J, Bilodeau S, Vallette S. Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency. Clin Genet. 2007 Sep;72(3):175-82. doi: 10.1111/j.1399-0004.2007.00877.x. Citation on PubMed
- Dworakowska D, Grossman AB. The molecular pathogenesis of corticotroph tumours. Eur J Clin Invest. 2012 Jun;42(6):665-76. doi: 10.1111/j.1365-2362.2011.02621.x. Epub 2011 Nov 19. Citation on PubMed
- Guaraldi F, Salvatori R. Cushing syndrome: maybe not so uncommon of an endocrine disease. J Am Board Fam Med. 2012 Mar-Apr;25(2):199-208. doi: 10.3122/jabfm.2012.02.110227. Citation on PubMed
- Guignat L, Bertherat J. The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline: commentary from a European perspective. Eur J Endocrinol. 2010 Jul;163(1):9-13. doi: 10.1530/EJE-09-0627. Epub 2010 Apr 7. Citation on PubMed
- Pluta RM, Burke AE, Golub RM. JAMA patient page. Cushing syndrome and Cushing disease. JAMA. 2011 Dec 28;306(24):2742. doi: 10.1001/jama.2011.1694. No abstract available. Citation on PubMed
- Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet. 2010 Nov;78(5):457-63. doi: 10.1111/j.1399-0004.2010.01406.x. Citation on PubMed or Free article on PubMed Central
- Yaneva M, Vandeva S, Zacharieva S, Daly AF, Beckers A. Genetics of Cushing's syndrome. Neuroendocrinology. 2010;92 Suppl 1:6-10. doi: 10.1159/000314215. Epub 2010 Sep 10. Citation on PubMed
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What is Cushing syndrome signs and symptoms?
What are the symptoms of Cushing's syndrome?. weight gain.. thin arms and legs.. a round face.. increased fat around the base of the neck.. a fatty hump between the shoulders.. easy bruising.. wide purple stretch marks, mainly on the abdomen, breasts, hips, and under the arms.. weak muscles.. Which symptoms would the nurse expect a client diagnosed with Cushing syndrome to exhibit?
Weight gain on the back of neck (buffalo hump) Skin changes with easy bruising in the extremities and development of purplish stretch marks (striae) particularly over the abdomen or axillary region. Red, round face (plethora) Central obesity with weight gain centered over the chest and abdomen with thin arms and legs.
What is Cushing's syndrome characterized by?
Cushing disease is an endocrine disorder characterized by excessive adrenocorticotropic hormone (ACTH) production by the anterior pituitary, leading to the release of an excess of cortisol from the adrenal glands.
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