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Pituitary dependent hypercortisolism

MedGen UID:
66381
Concept ID:
C0221406
Disease or Syndrome
Synonyms: AIP-Related Familial Isolated Pituitary Adenomas; CUSHING DISEASE, PITUITARY; Pituitary ACTH Hypersecretion; PITUITARY ADENOMA, ACTH-SECRETING; Pituitary adenoma, acth-secreting, somatic
Modes of inheritance:
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Describes a disorder that is not inherited.
SNOMED CT: Pituitary dependent hypercortisolism (190502001); Pituitary-dependent Cushing's disease (190502001); Cushing disease (190502001); Pituitary Cushing syndrome (190502001); Pituitary dependent Cushing disease (190502001); Cushing basophilism (190502001); Pituitary hyperadrenal corticism (190502001); Cushing's disease (190502001)
 
Gene (location): AIP (11q13.2)
OMIM®: 219090
Orphanet: ORPHA96253

Definition

Cushing 'disease' is a condition associated with increased blood cortisol resulting from adrenocorticotropic hormone (ACTH)-producing pituitary tumors that are resistant to glucocorticoid negative feedback (Bilodeau et al., 2006). ACTH is formed as a precursor from the POMC gene product (176830). See also Cushing 'syndrome' (219080), in which excess cortisol secretion results from adrenocortical pathology. [from OMIM]

Additional description

From GHR
Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in the face. Affected individuals may get stretch marks (striae) on their thighs and abdomen and bruise easily. Individuals with Cushing disease can develop a hump on their upper back caused by abnormal deposits of fat. People with this condition can have muscle weakness, severe tiredness, and progressively thin and brittle bones that are prone to fracture (osteoporosis). They also have a weakened immune system and are at an increased risk of infections. Cushing disease can cause mood disorders such as anxiety, irritability, and depression. This condition can also affect a person's concentration and memory. People with Cushing disease have an increased chance of developing high blood pressure (hypertension) and diabetes. Women with Cushing disease may experience irregular menstruation and have excessive hair growth (hirsutism) on their face, abdomen, and legs. Men with Cushing disease may have erectile dysfunction. Children with Cushing disease typically experience slow growth.  http://ghr.nlm.nih.gov/condition/cushing-disease

Clinical features

Truncal obesity
MedGen UID:
505025
Concept ID:
CN001770
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Abdominal obesity
MedGen UID:
776831
Concept ID:
CN185447
Finding
Excessive fat around the stomach and abdomen.
Pituitary adenoma
MedGen UID:
505393
Concept ID:
CN002616
Finding
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Neoplasm of the endocrine system
MedGen UID:
506484
Concept ID:
CN117461
Finding
A tumor (abnormal growth of tissue) of the endocrine system.
Decreased fertility
MedGen UID:
504364
Concept ID:
CN000140
Finding
Nephrolithiasis
MedGen UID:
504597
Concept ID:
CN000736
Finding
The presence of calculi (stones) in the kidneys.
Secondary amenorrhea
MedGen UID:
504636
Concept ID:
CN000815
Finding
Oligomenorrhea
MedGen UID:
504640
Concept ID:
CN000822
Finding
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Psychotic mentation
MedGen UID:
427868
Concept ID:
CN001233
Finding
Migraine
MedGen UID:
505085
Concept ID:
CN001878
Finding
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Sleep disturbance
MedGen UID:
505212
Concept ID:
CN002143
Finding
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Pituitary adenoma
MedGen UID:
505393
Concept ID:
CN002616
Finding
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Reduced consciousness/confusion
MedGen UID:
446594
Concept ID:
CN003871
Finding
Abnormal fear/anxiety-related behavior
MedGen UID:
452058
Concept ID:
CN117741
Finding
An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Secondary amenorrhea
MedGen UID:
504636
Concept ID:
CN000815
Finding
Oligomenorrhea
MedGen UID:
504640
Concept ID:
CN000822
Finding
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Hypercortisolism
MedGen UID:
427887
Concept ID:
CN001437
Finding
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
Pituitary adenoma
MedGen UID:
505393
Concept ID:
CN002616
Finding
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Increased circulating ACTH level
MedGen UID:
505469
Concept ID:
CN002846
Finding
An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
Neoplasm of the endocrine system
MedGen UID:
506484
Concept ID:
CN117461
Finding
A tumor (abnormal growth of tissue) of the endocrine system.
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Biconcave vertebral bodies
MedGen UID:
381592
Concept ID:
C1855245
Finding
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Recurrent fractures
MedGen UID:
500939
Concept ID:
CN002502
Finding
The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture).
Vertebral compression fractures
MedGen UID:
505421
Concept ID:
CN002673
Finding
Aseptic necrosis
MedGen UID:
451186
Concept ID:
CN116619
Finding
A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Abnormality of the gastric mucosa
MedGen UID:
428060
Concept ID:
CN003798
Finding
An abnormality of the gastric mucous membrane.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
A disorder characterized by the presence of excessive hair growth in women in anatomic sites where growth is considered to be a secondary male characteristic (beard, moustache, chest, abdomen), where hair growth is under androgen control.
Paronychia
MedGen UID:
45334
Concept ID:
C0030578
Disease or Syndrome
An inflammatory reaction involving the folds of the skin surrounding the fingernail. It is characterized by acute or chronic purulent, tender, and painful swellings of the tissues around the nail, caused by an abscess of the nail fold. The pathogenic yeast causing paronychia is most frequently Candida albicans. Saprophytic fungi may also be involved. The causative bacteria are usually Staphylococcus, Pseudomonas aeruginosa, or Streptococcus. (Andrews' Diseases of the Skin, 8th ed, p271)
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A disorder characterized by hemorrhagic areas of the skin and mucous membrane. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
Facial erythema
MedGen UID:
65986
Concept ID:
C0239488
Finding
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Poor wound healing
MedGen UID:
377525
Concept ID:
C1851789
Finding
Striae distensae
MedGen UID:
368799
Concept ID:
C1963160
Finding
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Hypertrichosis
MedGen UID:
504680
Concept ID:
CN000934
Finding
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Acne
MedGen UID:
504704
Concept ID:
CN000996
Finding
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Generalized hyperpigmentation
MedGen UID:
429112
Concept ID:
CN006519
Finding
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A disorder characterized by hemorrhagic areas of the skin and mucous membrane. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
Facial erythema
MedGen UID:
65986
Concept ID:
C0239488
Finding
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A disorder characterized by hemorrhagic areas of the skin and mucous membrane. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Thrombophlebitis
MedGen UID:
505631
Concept ID:
CN003913
Finding
Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
A disorder characterized by laboratory test results that indicate a low concentration of potassium in the blood.
Glucose intolerance
MedGen UID:
510705
Concept ID:
C0159069
Finding
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Edema
MedGen UID:
504667
Concept ID:
CN000907
Finding
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Alkalosis
MedGen UID:
505020
Concept ID:
CN001762
Finding
Depletion of acid or accumulation base in the body fluids.
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the immune system.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Skeletal muscle atrophy
MedGen UID:
505481
Concept ID:
CN002890
Finding
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Abnormality of adipose tissue
MedGen UID:
428873
Concept ID:
CN008014
Finding
An abnormality of adipose tissue20110), which is loose connective tissue composed of adipocytes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGPituitary dependent hypercortisolism

Recent clinical studies

Etiology

Heaney AP, Hunter SJ, Sheridan B, Brew Atkinson A
Clin Endocrinol (Oxf) 1999 Sep;51(3):293-9. PMID: 10469008
Chapuis Y, Pitre J, Conti F, Abboud B, Pras-Jude N, Luton JP
World J Surg 1996 Sep;20(7):775-9; discussion 779-80. PMID: 8678950
Scott HW Jr, Liddle GW, Mulherin JL Jr, Mckenna TJ, Stroup SL, Rhamy RK
Ann Surg 1977 May;185(5):524-34. PMID: 857746Free PMC Article

Diagnosis

van Aken MO, Pereira AM, van Thiel SW, van den Berg G, Frölich M, Veldhuis JD, Romijn JA, Roelfsema F
J Clin Endocrinol Metab 2005 Mar;90(3):1570-7. Epub 2004 Dec 14 doi: 10.1210/jc.2004-1281. [Epub ahead of print] PMID: 15598691Free PMC Article
Heaney AP, Hunter SJ, Sheridan B, Brew Atkinson A
Clin Endocrinol (Oxf) 1999 Sep;51(3):293-9. PMID: 10469008
Scott HW Jr, Liddle GW, Mulherin JL Jr, Mckenna TJ, Stroup SL, Rhamy RK
Ann Surg 1977 May;185(5):524-34. PMID: 857746Free PMC Article

Therapy

Chapuis Y, Pitre J, Conti F, Abboud B, Pras-Jude N, Luton JP
World J Surg 1996 Sep;20(7):775-9; discussion 779-80. PMID: 8678950

Prognosis

Chapuis Y, Pitre J, Conti F, Abboud B, Pras-Jude N, Luton JP
World J Surg 1996 Sep;20(7):775-9; discussion 779-80. PMID: 8678950
Scott HW Jr, Liddle GW, Mulherin JL Jr, Mckenna TJ, Stroup SL, Rhamy RK
Ann Surg 1977 May;185(5):524-34. PMID: 857746Free PMC Article

Clinical prediction guides

Chapuis Y, Pitre J, Conti F, Abboud B, Pras-Jude N, Luton JP
World J Surg 1996 Sep;20(7):775-9; discussion 779-80. PMID: 8678950

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