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Familial isolated pituitary adenoma(FIPA)

MedGen UID:
436629
•Concept ID:
C2676191
•
Neoplastic Process
Synonym: Pituitary Adenoma, Familial Isolated
SNOMED CT: Familial isolated pituitary adenoma (702375004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017824
OMIM®: 102200
OMIM® Phenotypic series: PS102200
Orphanet: ORPHA314777

Definition

A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial isolated pituitary adenoma

Professional guidelines

PubMed

The Genetic Pathophysiology and Clinical Management of the TADopathy, X-Linked Acrogigantism.
Daly AF, Beckers A
Endocr Rev 2024 Sep 12;45(5):737-754. doi: 10.1210/endrev/bnae014. PMID: 38696651
Screening for genetic causes of growth hormone hypersecretion.
Rostomyan L, Beckers A
Growth Horm IGF Res 2016 Oct-Dec;30-31:52-57. Epub 2016 Oct 12 doi: 10.1016/j.ghir.2016.10.004. PMID: 27756606
Pituitary tumors in childhood: update of diagnosis, treatment and molecular genetics.
Keil MF, Stratakis CA
Expert Rev Neurother 2008 Apr;8(4):563-74. doi: 10.1586/14737175.8.4.563. PMID: 18416659Free PMC Article

Recent clinical studies

Prognosis

Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease.
Rebollar-Vega RG, Zuarth-Vázquez JM, Hernández-Ramírez LC
Arch Med Res 2023 Dec;54(8):102899. Epub 2023 Nov 2 doi: 10.1016/j.arcmed.2023.102899. PMID: 37925320
The Spectrum of Familial Pituitary Neuroendocrine Tumors.
Armeni E, Grossman A
Endocr Pathol 2023 Mar;34(1):57-78. Epub 2022 Nov 18 doi: 10.1007/s12022-022-09742-0. PMID: 36401106
Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature.
Malicka JE, Świrska J, Kurowska M, Dudzińska M, Tarach JS
Endokrynol Pol 2017;68(6):697-707. Epub 2017 Oct 12 doi: 10.5603/EP.a2017.0058. PMID: 29022641
X-LAG: How did they grow so tall?
Beckers A, Rostomyan L, Potorac I, Beckers P, Daly AF
Ann Endocrinol (Paris) 2017 Jun;78(2):131-136. Epub 2017 Apr 27 doi: 10.1016/j.ando.2017.04.013. PMID: 28457479
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium
J Clin Endocrinol Metab 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869. PMID: 26186299Free PMC Article

Clinical prediction guides

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.
Marques P, Caimari F, Hernández-Ramírez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT, Stals K, Ellard S, Grossman AB, Korbonits M; FIPA Consortium
J Clin Endocrinol Metab 2020 Jun 1;105(6):e2247-60. doi: 10.1210/clinem/dgaa040. PMID: 31996917Free PMC Article
X-LAG: How did they grow so tall?
Beckers A, Rostomyan L, Potorac I, Beckers P, Daly AF
Ann Endocrinol (Paris) 2017 Jun;78(2):131-136. Epub 2017 Apr 27 doi: 10.1016/j.ando.2017.04.013. PMID: 28457479
cAMP-specific PDE4 phosphodiesterases and AIP in the pathogenesis of pituitary tumors.
Bolger GB, Bizzi MF, Pinheiro SV, Trivellin G, Smoot L, Accavitti MA, Korbonits M, Ribeiro-Oliveira A Jr
Endocr Relat Cancer 2016 May;23(5):419-31. doi: 10.1530/ERC-15-0205. PMID: 27267386Free PMC Article
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium
J Clin Endocrinol Metab 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869. PMID: 26186299Free PMC Article
Recent clinical and pathophysiological advances in non-functioning pituitary adenomas.
Korbonits M, Carlsen E
Horm Res 2009 Apr;71 Suppl 2:123-30. Epub 2009 Apr 29 doi: 10.1159/000192449. PMID: 19407508

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