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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
Puig-Domingo M, Marazuela M
Minerva Endocrinol 2019 Jun;44(2):169-175. Epub 2018 Dec 7 doi: 10.23736/S0391-1977.18.02937-1. PMID: 30531695
Molitch ME
JAMA 2017 Feb 7;317(5):516-524. doi: 10.1001/jama.2016.19699. PMID: 28170483

Recent clinical studies

Etiology

Koylu B, Firlatan B, Sendur SN, Oguz SH, Dagdelen S, Erbas T
Endocrine 2023 Mar;79(3):545-553. Epub 2022 Nov 1 doi: 10.1007/s12020-022-03241-2. PMID: 36318446
Ilie MD, Tabarin A, Vasiljevic A, Bonneville JF, Moreau-Grangé L, Schillo F, Delemer B, Barlier A, Figarella-Branger D, Bisot-Locard S, Santos A, Chanson P, Raverot G
J Clin Endocrinol Metab 2022 Nov 23;107(11):2982-2991. doi: 10.1210/clinem/dgac512. PMID: 36136828
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
Haddad SF, VanGilder JC, Menezes AH
Neurosurgery 1991 Oct;29(4):509-14. doi: 10.1097/00006123-199110000-00004. PMID: 1944830

Diagnosis

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
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
Bista B, Beck N
Indian J Pediatr 2014 Feb;81(2):158-64. Epub 2013 Sep 24 doi: 10.1007/s12098-013-1203-8. PMID: 24062268

Therapy

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
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

Prognosis

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
Ilie MD, Tabarin A, Vasiljevic A, Bonneville JF, Moreau-Grangé L, Schillo F, Delemer B, Barlier A, Figarella-Branger D, Bisot-Locard S, Santos A, Chanson P, Raverot G
J Clin Endocrinol Metab 2022 Nov 23;107(11):2982-2991. doi: 10.1210/clinem/dgac512. PMID: 36136828
Ershadinia N, Tritos NA
Mayo Clin Proc 2022 Feb;97(2):333-346. doi: 10.1016/j.mayocp.2021.11.007. PMID: 35120696
Ben-Shlomo A, Cooper O
Pituitary 2018 Apr;21(2):183-193. doi: 10.1007/s11102-018-0864-8. PMID: 29344907
Holdaway IM, Rajasoorya C
Pituitary 1999 Jun;2(1):29-41. doi: 10.1023/a:1009965803750. PMID: 11081170

Clinical prediction guides

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
Ilie MD, Tabarin A, Vasiljevic A, Bonneville JF, Moreau-Grangé L, Schillo F, Delemer B, Barlier A, Figarella-Branger D, Bisot-Locard S, Santos A, Chanson P, Raverot G
J Clin Endocrinol Metab 2022 Nov 23;107(11):2982-2991. doi: 10.1210/clinem/dgac512. PMID: 36136828
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
Holdaway IM, Rajasoorya C
Pituitary 1999 Jun;2(1):29-41. doi: 10.1023/a:1009965803750. PMID: 11081170

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
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
Roca E, Mattogno PP, Porcelli T, Poliani L, Belotti F, Schreiber A, Maffezzoni F, Fontanella MM, Doglietto F
World Neurosurg 2018 Jun;114:e158-e164. Epub 2018 Mar 6 doi: 10.1016/j.wneu.2018.02.120. PMID: 29501516
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
Seltzer J, Ashton CE, Scotton TC, Pangal D, Carmichael JD, Zada G
Neurosurg Focus 2015 Feb;38(2):E17. doi: 10.3171/2014.10.FOCUS14683. PMID: 25639319

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