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Somatotroph adenoma(PITA1)

MedGen UID:
1618709
Concept ID:
C4538355
Neoplastic Process
Synonyms: ACROMEGALY DUE TO PITUITARY ADENOMA 1; ISOLATED FAMILIAL SOMATOTROPINOMA; PITA1; PITUITARY ADENOMA 1, MULTIPLE TYPES; Pituitary adenoma, growth hormone-secreting; Pituitary tumor, growth hormone-secreting, somatic; SOMATOTROPHINOMA, FAMILIAL
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Somatic mutation (HPO, OMIM)
 
Gene (location): AIP (11q13.2)
 
Monarch Initiative: MONDO:0007052
OMIM®: 102200

Disease characteristics

Excerpted from the GeneReview: AIP Familial Isolated Pituitary Adenomas
AIP familial isolated pituitary adenoma (AIP-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 nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) 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-FIPA is usually in the second or third decade. [from GeneReviews]
Authors:
Márta Korbonits  |  Ajith V Kumar   view full author information

Additional description

From OMIM
Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors. Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (139250)-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (176760)-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB; 188540)-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008). Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008). Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' 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). Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007). Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary Adenomas Also see pituitary adenoma-2 (PITA2; 300943), caused by mutation in the GPR101 gene (300393); pituitary adenoma-3 (PITA3; 617686), caused by somatic activating mutations in the GNAS1 gene (139320); pituitary adenoma-4 (PITA4; 219090), caused by somatic mutation in the USP8 gene (603158); and pituitary adenoma-5 (PITA5; 617540), caused by mutation in the CDH23 gene (605516). Patients with the chromosome Xq26.3 microduplication syndrome (300942) have growth hormone-secreting adenomas. Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1; 131100), Carney complex (CNC1; 160980), and the McCune-Albright syndrome (174800). Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG; 300942) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.  http://www.omim.org/entry/102200

Clinical features

From HPO
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.
Prolactin-producing pituitary gland adenoma
MedGen UID:
10936
Concept ID:
C0033375
Neoplastic Process
AIP familial isolated pituitary adenoma (AIP-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 nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) 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-FIPA is usually in the second or third decade.
Pituitary growth hormone cell adenoma
MedGen UID:
866320
Concept ID:
C4018860
Neoplastic Process
A type of pituitary adenoma that produces growth hormone.
Irregular menstruation
MedGen UID:
56379
Concept ID:
C0156404
Finding
Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or overgrowth of the myocardium of the left ventricle, due to chronic pressure overload.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
Growth hormone excess
MedGen UID:
66732
Concept ID:
C0235986
Finding
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
Hyperprolactinemia
MedGen UID:
5698
Concept ID:
C0020514
Disease or Syndrome
The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.
Prolactin-producing pituitary gland adenoma
MedGen UID:
10936
Concept ID:
C0033375
Neoplastic Process
AIP familial isolated pituitary adenoma (AIP-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 nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) 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-FIPA is usually in the second or third decade.
Growth hormone excess
MedGen UID:
66732
Concept ID:
C0235986
Finding
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
Pituitary growth hormone cell adenoma
MedGen UID:
866320
Concept ID:
C4018860
Neoplastic Process
A type of pituitary adenoma that produces growth hormone.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Hyperprolactinemia
MedGen UID:
5698
Concept ID:
C0020514
Disease or Syndrome
The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.
Prolactin-producing pituitary gland adenoma
MedGen UID:
10936
Concept ID:
C0033375
Neoplastic Process
AIP familial isolated pituitary adenoma (AIP-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 nonfunctioning pituitary adenomas (NFPA). Rarely TSH-secreting adenomas (thyrotropinomas) 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-FIPA is usually in the second or third decade.
Growth hormone excess
MedGen UID:
66732
Concept ID:
C0235986
Finding
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
Increased serum insulin-like growth factor 1
MedGen UID:
390982
Concept ID:
C2676198
Finding
An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Pituitary growth hormone cell adenoma
MedGen UID:
866320
Concept ID:
C4018860
Neoplastic Process
A type of pituitary adenoma that produces growth hormone.
Galactorrhea
MedGen UID:
777088
Concept ID:
C3665358
Disease or Syndrome
Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.

Recent clinical studies

Etiology

Swanson AA, Erickson D, Donegan DM, Jenkins SM, Van Gompel JJ, Atkinson JLD, Erickson BJ, Giannini C
Pituitary 2021 Apr;24(2):192-206. Epub 2020 Oct 19 doi: 10.1007/s11102-020-01096-2. PMID: 33074402
Lian X, Shen J, Gu Z, Yan J, Sun S, Hou X, You H, Xing B, Zhu H, Shen J, Zhang F
J Clin Endocrinol Metab 2020 Dec 1;105(12) doi: 10.1210/clinem/dgaa651. PMID: 32930785
Kawaguchi T, Ogawa Y, Tominaga T
J Med Case Rep 2019 Mar 13;13(1):85. doi: 10.1186/s13256-019-1981-3. PMID: 30862315Free PMC Article
Franck SE, Gatto F, van der Lely AJ, Janssen JAMJL, Dallenga AHG, Nagtegaal AP, Hofland LJ, Neggers SJCMM
Neuroendocrinology 2017;105(1):44-53. Epub 2016 Jul 25 doi: 10.1159/000448429. PMID: 27455094Free PMC Article
Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
J Clin Endocrinol Metab 2005 Nov;90(11):6290-5. Epub 2005 Aug 23 doi: 10.1210/jc.2005-0998. PMID: 16118335

Diagnosis

Hozumi K, Fukuoka H, Odake Y, Takeuchi T, Uehara T, Sato T, Inoshita N, Yoshida K, Matsumoto R, Bando H, Hirota Y, Iguchi G, Taniguchi M, Otsuki N, Nishigori C, Kosaki K, Hasegawa T, Ogawa W, Takahashi Y
Endocr J 2019 Oct 28;66(10):853-857. Epub 2019 Jun 12 doi: 10.1507/endocrj.EJ19-0035. PMID: 31189769
Kawaguchi T, Ogawa Y, Tominaga T
J Med Case Rep 2019 Mar 13;13(1):85. doi: 10.1186/s13256-019-1981-3. PMID: 30862315Free PMC Article
Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
J Clin Endocrinol Metab 2005 Nov;90(11):6290-5. Epub 2005 Aug 23 doi: 10.1210/jc.2005-0998. PMID: 16118335
Saveanu A, Lavaque E, Gunz G, Barlier A, Kim S, Taylor JE, Culler MD, Enjalbert A, Jaquet P
J Clin Endocrinol Metab 2002 Dec;87(12):5545-52. doi: 10.1210/jc.2002-020934. PMID: 12466351
Matsuno A, Katakami H, Sanno N, Ogino Y, Osamura RY, Matsukura S, Shimizu N, Nagashima T
J Clin Endocrinol Metab 1999 Sep;84(9):3241-7. doi: 10.1210/jcem.84.9.6008. PMID: 10487694

Therapy

Dogansen SC, Yalin GY, Tanrikulu S, Tekin S, Nizam N, Bilgic B, Sencer S, Yarman S
Pituitary 2018 Aug;21(4):347-354. doi: 10.1007/s11102-018-0877-3. PMID: 29460202
Franck SE, Gatto F, van der Lely AJ, Janssen JAMJL, Dallenga AHG, Nagtegaal AP, Hofland LJ, Neggers SJCMM
Neuroendocrinology 2017;105(1):44-53. Epub 2016 Jul 25 doi: 10.1159/000448429. PMID: 27455094Free PMC Article
Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
J Clin Endocrinol Metab 2005 Nov;90(11):6290-5. Epub 2005 Aug 23 doi: 10.1210/jc.2005-0998. PMID: 16118335
Rickels MR, Snyder PJ
Pituitary 2004;7(2):107-10. doi: 10.1007/s11102-005-5353-1. PMID: 15761660
Sauer J, Renner U, Hopfner U, Lange M, Müller A, Strasburger CJ, Pagotto U, Arzt E, Stalla GK
J Clin Endocrinol Metab 1998 Jul;83(7):2429-34. doi: 10.1210/jcem.83.7.4963. PMID: 9661623

Prognosis

Chen Y, Li Z, Fang Q, Wang H, Li C, Gao H, Zhang Y
Int J Mol Med 2021 Feb;47(2):500-510. Epub 2020 Dec 2 doi: 10.3892/ijmm.2020.4807. PMID: 33416096Free PMC Article
Swanson AA, Erickson D, Donegan DM, Jenkins SM, Van Gompel JJ, Atkinson JLD, Erickson BJ, Giannini C
Pituitary 2021 Apr;24(2):192-206. Epub 2020 Oct 19 doi: 10.1007/s11102-020-01096-2. PMID: 33074402
Lian X, Shen J, Gu Z, Yan J, Sun S, Hou X, You H, Xing B, Zhu H, Shen J, Zhang F
J Clin Endocrinol Metab 2020 Dec 1;105(12) doi: 10.1210/clinem/dgaa651. PMID: 32930785
Albarel F, Castinetti F, Morange I, Guibert N, Graillon T, Dufour H, Brue T
Pituitary 2018 Dec;21(6):615-623. doi: 10.1007/s11102-018-0916-0. PMID: 30367444
Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
J Clin Endocrinol Metab 2005 Nov;90(11):6290-5. Epub 2005 Aug 23 doi: 10.1210/jc.2005-0998. PMID: 16118335

Clinical prediction guides

Chen Y, Li Z, Fang Q, Wang H, Li C, Gao H, Zhang Y
Int J Mol Med 2021 Feb;47(2):500-510. Epub 2020 Dec 2 doi: 10.3892/ijmm.2020.4807. PMID: 33416096Free PMC Article
Kawaguchi T, Ogawa Y, Tominaga T
J Med Case Rep 2019 Mar 13;13(1):85. doi: 10.1186/s13256-019-1981-3. PMID: 30862315Free PMC Article
Nishizawa H, Fukuoka H, Iguchi G, Inoshita N, Yamada S, Takahashi Y
Exp Clin Endocrinol Diabetes 2013 May;121(5):295-9. Epub 2013 May 14 doi: 10.1055/s-0032-1331697. PMID: 23674160
Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
J Clin Endocrinol Metab 2005 Nov;90(11):6290-5. Epub 2005 Aug 23 doi: 10.1210/jc.2005-0998. PMID: 16118335
Rickels MR, Snyder PJ
Pituitary 2004;7(2):107-10. doi: 10.1007/s11102-005-5353-1. PMID: 15761660

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