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Pituitary adenoma, growth hormone-secreting, 2(PITA2)

MedGen UID:
860846
Concept ID:
C4012409
Neoplastic Process
Synonyms: ACROMEGALY DUE TO PITUITARY ADENOMA 2; ACROMEGALY, X-LINKED; PITA2; Pituitary adenoma 2, GH-secreting
 
Gene (location): GPR101 (Xq26.3)
 
Monarch Initiative: MONDO:0010492
OMIM®: 300943

Definition

Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene. [from MONDO]

Clinical features

From HPO
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).
Elevated circulating growth hormone concentration
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.

Professional guidelines

PubMed

Ershadinia N, Tritos NA
Mayo Clin Proc 2022 Feb;97(2):333-346. doi: 10.1016/j.mayocp.2021.11.007. PMID: 35120696
Wang Z, Xing B
Endocrine 2018 Nov;62(2):501-502. Epub 2018 Jun 25 doi: 10.1007/s12020-018-1660-y. PMID: 29943363
Molitch ME
JAMA 2017 Feb 7;317(5):516-524. doi: 10.1001/jama.2016.19699. PMID: 28170483

Recent clinical studies

Etiology

Biagetti B, Araujo-Castro M, Torre EM, Novoa-Testa I, Cordido F, Corrales EP, Berrocal VR, Guerrero-Pérez F, Vicente A, Percovich JC, Centeno RG, González L, García MDO, Echarri AI, Rodríguez MDM, Novo-Rodríguez C, Calatayud M, Villar-Taibo R, Bernabéu I, Alvarez-Escola C, Valderrama PB, Tenorio-Jiménez C, Galiana PA, Moreno EV, Molero IG, Iglesias P, Blanco C, De Lara FV, de Miguel P, Mezquita EL, Hanzu F, Aldecoa I, Aznar S, Lamas C, Aulinas A, Asla Roca Q, Gracia P, Córdova JMR, Aviles M, Asensio-Wandosel D, Sampedro M, Cámara R, Paja M, Ruz-Caracuel I, Fajardo-Montañana C, Asanza EC, Martinez-Saez E, Marazuela M, Puig-Domingo M
Eur J Endocrinol 2024 Jun 5;190(6):458-466. doi: 10.1093/ejendo/lvae053. PMID: 38771697
Haberbosch L, MacFarlane J, Koulouri O, Gillett D, Powlson AS, Oddy S, Halsall DJ, Huynh KA, Jones J, Cheow HK, Spranger J, Mai K, Strasburger CJ, Mannion RJ, Gurnell M
Eur J Endocrinol 2024 Mar 30;190(4):307-313. doi: 10.1093/ejendo/lvae028. PMID: 38482632
Araujo-Castro M, Biagetti B, Menéndez Torre E, Novoa-Testa I, Cordido F, Pascual Corrales E, Rodríguez Berrocal V, Guerrero-Pérez F, Vicente A, Percovich JC, García Centeno R, González L, Ollero García MD, Irigaray Echarri A, Moure Rodríguez MD, Novo-Rodríguez C, Calatayud M, Villar R, Bernabéu I, Alvarez-Escola C, Benítez Valderrama P, Tenorio-Jimenéz C, Abellán Galiana P, Venegas Moreno E, González Molero I, Iglesias P, Blanco C, Vidal-Ostos De Lara F, de Miguel P, López Mezquita E, Hanzu F, Aldecoa I, Lamas C, Aznar S, Aulinas A, Calabrese A, Gracia P, Recio-Córdova JM, Aviles M, Asensio-Wandosel D, Sampedro M, Ruz-Caracuel I, Camara R, Paja M, Fajardo-Montañana C, Marazuela M, Puig-Domingo M
J Clin Endocrinol Metab 2024 Nov 18;109(12):e2178-e2187. doi: 10.1210/clinem/dgae126. PMID: 38436926
Coutu B, Alvarez DA, Ciurej A, Moneymaker K, White M, Zhang C, Drincic A
AJNR Am J Neuroradiol 2022 Apr;43(4):597-602. Epub 2022 Mar 17 doi: 10.3174/ajnr.A7453. PMID: 35301224Free PMC Article
Giantini-Larsen AM, Uribe-Cardenas R, Juthani RG
Otolaryngol Clin North Am 2022 Apr;55(2):331-341. Epub 2022 Mar 4 doi: 10.1016/j.otc.2021.12.007. PMID: 35256175

Diagnosis

Ershadinia N, Tritos NA
Mayo Clin Proc 2022 Feb;97(2):333-346. doi: 10.1016/j.mayocp.2021.11.007. PMID: 35120696
Gomes-Porras M, Cárdenas-Salas J, Álvarez-Escolá C
Int J Mol Sci 2020 Feb 29;21(5) doi: 10.3390/ijms21051682. PMID: 32121432Free PMC Article
Molitch ME
JAMA 2017 Feb 7;317(5):516-524. doi: 10.1001/jama.2016.19699. PMID: 28170483
Sriphrapradang C, Ngarmukos C
Cleve Clin J Med 2016 Feb;83(2):90-1. doi: 10.3949/ccjm.83a.15019. PMID: 26871381
Cerdà Gabaroi D, Corominas Macías H, Reina Sanz D, Fíguls Poch R
Reumatol Clin 2013 Mar-Apr;9(2):128-9. Epub 2012 Apr 7 doi: 10.1016/j.reuma.2012.01.004. PMID: 22484062

Therapy

Ershadinia N, Tritos NA
Mayo Clin Proc 2022 Feb;97(2):333-346. doi: 10.1016/j.mayocp.2021.11.007. PMID: 35120696
Gadelha MR, Wildemberg LE, Kasuki L
J Clin Endocrinol Metab 2022 Jan 18;107(2):297-308. doi: 10.1210/clinem/dgab726. PMID: 34618894Free PMC Article
Gomes-Porras M, Cárdenas-Salas J, Álvarez-Escolá C
Int J Mol Sci 2020 Feb 29;21(5) doi: 10.3390/ijms21051682. PMID: 32121432Free PMC Article
Molitch ME
JAMA 2017 Feb 7;317(5):516-524. doi: 10.1001/jama.2016.19699. PMID: 28170483
Caron P
Ann Endocrinol (Paris) 2011 Sep;72(4):282-286. Epub 2011 Aug 4 doi: 10.1016/j.ando.2011.07.002. PMID: 21820101

Prognosis

Shimon I
Best Pract Res Clin Endocrinol Metab 2024 Jul;38(4):101887. Epub 2024 Feb 28 doi: 10.1016/j.beem.2024.101887. PMID: 38443225
Araujo-Castro M, Biagetti B, Menéndez Torre E, Novoa-Testa I, Cordido F, Pascual Corrales E, Rodríguez Berrocal V, Guerrero-Pérez F, Vicente A, Percovich JC, García Centeno R, González L, Ollero García MD, Irigaray Echarri A, Moure Rodríguez MD, Novo-Rodríguez C, Calatayud M, Villar R, Bernabéu I, Alvarez-Escola C, Benítez Valderrama P, Tenorio-Jimenéz C, Abellán Galiana P, Venegas Moreno E, González Molero I, Iglesias P, Blanco C, Vidal-Ostos De Lara F, de Miguel P, López Mezquita E, Hanzu F, Aldecoa I, Lamas C, Aznar S, Aulinas A, Calabrese A, Gracia P, Recio-Córdova JM, Aviles M, Asensio-Wandosel D, Sampedro M, Ruz-Caracuel I, Camara R, Paja M, Fajardo-Montañana C, Marazuela M, Puig-Domingo M
J Clin Endocrinol Metab 2024 Nov 18;109(12):e2178-e2187. doi: 10.1210/clinem/dgae126. PMID: 38436926
Giustina A, di Filippo L, Uygur MM, Frara S
Endocrine 2023 May;80(2):303-307. Epub 2023 Feb 15 doi: 10.1007/s12020-023-03317-7. PMID: 36790521
Ershadinia N, Tritos NA
Mayo Clin Proc 2022 Feb;97(2):333-346. doi: 10.1016/j.mayocp.2021.11.007. PMID: 35120696
Wang Z, Guo X, Gao L, Feng C, Lian W, Deng K, Bao X, Feng M, Wang R, Xing B
World Neurosurg 2019 Feb;122:e1137-e1145. Epub 2018 Nov 14 doi: 10.1016/j.wneu.2018.11.004. PMID: 30447463

Clinical prediction guides

Shimon I
Best Pract Res Clin Endocrinol Metab 2024 Jul;38(4):101887. Epub 2024 Feb 28 doi: 10.1016/j.beem.2024.101887. PMID: 38443225
Regazzo D, Avallone S, MacSweeney CP, Sergeev E, Howe D, Godwood A, Bennett KA, Brown AJH, Barnes M, Occhi G, Barbot M, Faggian D, Tropeano MP, Losa M, Lasio G, Scaroni C, Pecori Giraldi F
Eur J Endocrinol 2024 Jan 3;190(1):K8-K16. doi: 10.1093/ejendo/lvad171. PMID: 38123488
Giustina A, di Filippo L, Uygur MM, Frara S
Endocrine 2023 May;80(2):303-307. Epub 2023 Feb 15 doi: 10.1007/s12020-023-03317-7. PMID: 36790521
Ershadinia N, Tritos NA
Mayo Clin Proc 2022 Feb;97(2):333-346. doi: 10.1016/j.mayocp.2021.11.007. PMID: 35120696
Molitch ME
JAMA 2017 Feb 7;317(5):516-524. doi: 10.1001/jama.2016.19699. PMID: 28170483

Recent systematic reviews

Pînzariu O, Georgescu CE
J Investig Med 2023 Aug;71(6):634-645. Epub 2023 May 4 doi: 10.1177/10815589231169452. PMID: 37139720
Layard Horsfall H, Lawrence A, Venkatesh A, Loh RTS, Jayapalan R, Koulouri O, Sharma R, Santarius T, Gurnell M, Dorward N, Mannion R, Marcus HJ, Kolias AG
Pituitary 2023 Apr;26(2):171-181. Epub 2023 Mar 2 doi: 10.1007/s11102-023-01303-w. PMID: 36862265Free PMC Article
De Herdt C, Philipse E, De Block C
Eur J Endocrinol 2021 Jul 12;185(2):R65-R74. doi: 10.1530/EJE-21-0162. PMID: 34132199
Phan K, Xu J, Reddy R, Kalakoti P, Nanda A, Fairhall J
World Neurosurg 2017 Jan;97:398-406. Epub 2016 Oct 15 doi: 10.1016/j.wneu.2016.10.029. PMID: 27756664
Tabaee A, Anand VK, Barrón Y, Hiltzik DH, Brown SM, Kacker A, Mazumdar M, Schwartz TH
J Neurosurg 2009 Sep;111(3):545-54. doi: 10.3171/2007.12.17635. PMID: 19199461

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