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Pituitary dependent hypercortisolism(PITA4)

MedGen UID:
66381
Concept ID:
C0221406
Disease or Syndrome
Synonyms: AIP-Related Familial Isolated Pituitary Adenomas; CUSHING DISEASE, PITUITARY; PITA4; Pituitary ACTH Hypersecretion; PITUITARY ADENOMA 4, ACTH-SECRETING; Pituitary adenoma, acth-secreting, somatic
Modes of inheritance:
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
not inherited (Orphanet)
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)
 
Genes (locations): AIP (11q13.2); USP8 (15q21.2)
OMIM®: 219090
Orphanet: ORPHA96253

Definition

AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years). [from GTR]

Additional descriptions

From GeneReviews
AIP-related isolated familial pituitary adenoma (AIP-related FIPA) is defined as the presence of an AIP germline pathogenic variant in an individual with a pituitary adenoma (regardless of family history). The most commonly occurring pituitary adenomas in this disorder are growth hormone-secreting adenomas (somatotropinoma), followed by prolactin-secreting adenomas (prolactinoma), growth hormone and prolactin co-secreting adenomas (somatomammotropinoma), and non-functioning pituitary adenomas (NFPA). Rarely TSH- or ACTH-secreting adenomas (thyrotropinoma and corticotropinoma) are observed. Clinical findings result from excess hormone secretion, lack of hormone secretion, and/or mass effects (e.g., headaches, visual field loss). Within the same family, pituitary adenomas can be of the same or different type. Age of onset in AIP-related FIPA is around 20-24 years (age range: 6-66 years).  https://www.ncbi.nlm.nih.gov/books/NBK97965
From OMIM
Adrenocorticotropic hormone (ACTH) hypersecretion by corticotroph adenomas of the pituitary result in excess cortisol secretion, or Cushing disease. The clinical features of Cushing disease include central obesity, moon facies, 'buffalo hump,' diabetes, hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Mutations in the USP8 gene, leading to an upregulated epidermal growth factor receptor (EGFR; 131550) pathway, have been identified in about 36 to 62% of corticotroph adenomas (summary by Mete and Lopes, 2017).  http://www.omim.org/entry/219090
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.  https://ghr.nlm.nih.gov/condition/cushing-disease

Clinical features

Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Abnormally infrequent menstruation.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Increased circulating ACTH level
MedGen UID:
867375
Concept ID:
C4021740
Finding
An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Abnormally infrequent menstruation.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
Formation of stones in the KIDNEY.
Blushing
MedGen UID:
622
Concept ID:
C0005874
Sign or Symptom
Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure that is abnormally high.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A small blood vessel hemorrhage into the skin and/or mucous membranes. 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:
140849
Concept ID:
C0423798
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.
Truncal obesity
MedGen UID:
90229
Concept ID:
C0311277
Finding
A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Mood swings
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
A condition of frequent mood changes associated with excessive emotional reactions.
Abnormal fear/anxiety-related behavior
MedGen UID:
866318
Concept ID:
C4018849
Mental or Behavioral Dysfunction
An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.
Psychotic mentation
MedGen UID:
871301
Concept ID:
C4025789
Mental or Behavioral Dysfunction
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A small blood vessel hemorrhage into the skin and/or mucous membranes. 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:
140849
Concept ID:
C0423798
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.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Abnormally infrequent menstruation.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
Formation of stones in the KIDNEY.
Skeletal muscle atrophy
MedGen UID:
902598
Concept ID:
C0234958
Disease or Syndrome
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Alkalosis
MedGen UID:
1410
Concept ID:
C0002063
Disease or Syndrome
A pathological condition that removes acid or adds base to the body fluids.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Sign or Symptom
Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
Glucose intolerance
MedGen UID:
75760
Concept ID:
C0271650
Disease or Syndrome
A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Abnormally increased curvature of the thoracic portion of the spine.
Generalized osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).
Vertebral collapse
MedGen UID:
98379
Concept ID:
C0410550
Disease or Syndrome
Biconcave vertebral bodies
MedGen UID:
383834
Concept ID:
C1856087
Finding
Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
Blushing
MedGen UID:
622
Concept ID:
C0005874
Sign or Symptom
Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.
Striae distensae
MedGen UID:
57541
Concept ID:
C0152459
Acquired Abnormality
Linear dermal scars accompanied by epidermal atrophy that affects skin that is subjected to continuous stretching. They usually do not cause any significant medical problems, only cosmetic problems.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
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.
Poor wound healing
MedGen UID:
377525
Concept ID:
C1851789
Finding
A reduced ability to heal cutaneous wounds.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Abnormally infrequent menstruation.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Increased circulating ACTH level
MedGen UID:
867375
Concept ID:
C4021740
Finding
An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPituitary dependent hypercortisolism
Follow this link to review classifications for Pituitary dependent hypercortisolism in Orphanet.

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. 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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