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Somatotroph adenoma(PAGH1)

MedGen UID:
91097
Concept ID:
C0346302
Neoplastic Process
Synonyms: ACROMEGALY DUE TO PITUITARY ADENOMA 1; AIP-Related Familial Isolated Pituitary Adenomas; ISOLATED FAMILIAL SOMATOTROPINOMA; PAGH1; Pituitary adenoma, growth hormone-secreting; PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 1; 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, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Somatic mutation (HPO, OMIM)
SNOMED CT: Somatotroph adenoma (254957009); Growth hormone-secreting pituitary adenoma (254957009)
 
Genes (locations): AIP (11q13.2); GNAS (20q13.32)
OMIM®: 102200

Disease characteristics

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 GeneReviews]
Authors:
Márta Korbonits  |  Ajith V Kumar   view full author information

Additional description

From OMIM
Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (GH; 139250)-secreting adenomas, also known as somatotropinomas and 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 (600634), which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, resulting in Cushing disease (219090), 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). 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). Genetic Heterogeneity of Growth Hormone-Secreting Pituitary Adenomas Growth hormone-secreting pituitary adenoma-2 (PAGH2; 300943) is caused by germline mutation in the GPR101 gene (300393). Sporadic pituitary growth hormone-secreting adenomas can be caused by somatic activating mutations in the GNAS1 gene (139320). 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

Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
Prolactinoma, familial
MedGen UID:
10936
Concept ID:
C0033375
Neoplastic Process
Prolactin-secreting pituitary adenoma, or prolactinoma, is the most common type of hormonally active pituitary adenoma. These tumors can also be seen as a feature of multiple endocrine neoplasia type I (MEN1; 131100). See also 102200 for a discussion of familial isolated pituitary adenoma (FIPA) and acromegaly due to a growth hormone (GH; 139250)-secreting pituitary adenoma, which are also caused by mutation in the AIP gene. Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.
Menstrual irregularities
MedGen UID:
56379
Concept ID:
C0156404
Finding
Deviations from the normal process; e.g. delayed, difficult, profuse, scanty, unusual bleeding, etc.
Pituitary growth hormone cell adenoma
MedGen UID:
866320
Concept ID:
C4018860
Neoplastic Process
A type of pituitary adenoma that produces grwoth hormone.
Galactorrhea
MedGen UID:
777088
Concept ID:
C3665358
Disease or Syndrome
Excessive or inappropriate LACTATION in females or males, and not necessarily related to PREGNANCY. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is HYPERPROLACTINEMIA.

Recent clinical studies

Etiology

Aljabri KS, Bokhari SA, Assiri FY, Alshareef MA, Khan PM
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Shanik MH
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van der Pas R, Feelders RA, Gatto F, de Bruin C, Pereira AM, van Koetsveld PM, Sprij-Mooij DM, Waaijers AM, Dogan F, Schulz S, Kros JM, Lamberts SW, Hofland LJ
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Larkin S, Reddy R, Karavitaki N, Cudlip S, Wass J, Ansorge O
Eur J Endocrinol 2013 Apr;168(4):491-9. Epub 2013 Mar 15 doi: 10.1530/EJE-12-0864. PMID: 23288882
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

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
Syro LV, Horvath E, Kovacs K
J Endocrinol Invest 2000 Jan;23(1):37-41. doi: 10.1007/BF03343674. PMID: 10698050
Matsuno A, Sanno N, Tahara S, Teramoto A, Osamura RY, Wada H, Murakami M, Tanaka H, Nagashima T
Endocr J 1999 Mar;46 Suppl:S81-4. PMID: 12054127
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

Zhou C, Jiao Y, Wang R, Ren SG, Wawrowsky K, Melmed S
J Clin Invest 2015 Apr;125(4):1692-702. Epub 2015 Mar 16 doi: 10.1172/JCI78173. PMID: 25774503Free PMC Article
Glynn N, Agha A
Endocr Pract 2013 Jul-Aug;19(4):e88-91. doi: 10.4158/EP13036.CR. PMID: 23512395
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

Peng H, Fan J, Wu J, Lang J, Wang J, Liu H, Zhao S, Liao J
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Buchfelder M, Weigel D, Droste M, Mann K, Saller B, Brübach K, Stalla GK, Bidlingmaier M, Strasburger CJ; Investigators of German Pegvisomant Observational Study.
Eur J Endocrinol 2009 Jul;161(1):27-35. Epub 2009 May 1 doi: 10.1530/EJE-08-0910. PMID: 19411302
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
Zargar AH, Laway BA, Masoodi SR, Salahuddin M, Ganie MA, Bhat MH, Wani AI, Bashir MI
Saudi Med J 2004 Oct;25(10):1428-32. PMID: 15494816

Clinical prediction guides

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Peng H, Liu H, Zhao S, Wu J, Fan J, Liao J
PLoS One 2013;8(3):e59024. Epub 2013 Mar 28 doi: 10.1371/journal.pone.0059024. PMID: 23555615Free 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

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