open access
Vol 68, No 6 (2017)
Case report
Submitted: 2017-04-02
Accepted: 2017-06-29
Published online: 2017-10-12
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Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature
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open access
Vol 68, No 6 (2017)
Case report
Submitted: 2017-04-02
Accepted: 2017-06-29
Published online: 2017-10-12
Abstract
Background
The majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients’ age at the moment of recognition.
Objectives
The aim of this retrospective study is to present 4 families in which two closely related people were diagnosed with pituitary adenomas. Probably these cases are clinical manifestations of FIPA.
Material and methods
Eight patients within four families, presenting with anterior pituitary tumors were described. The authors analyzed medical and family histories of the patients, their imaging pictures (pituitary MRI/CT) and hormonal tests.
Results
Family 1.: two sisters with acromegaly in the course of macroadenoma. Family 2.: two brothers with clinically nonsecreting macroadenomas. Family 3.: father and daughter with clinically nonsecreting macroadenomas. Family 4.: young man with acromegaly caused by macroadenoma and a daughter of his mother`s sister with microprolactinoma.
Conclusions.
Familial isolated pituitary adenomas are more common than it was previously thought, therefore, specific questioning regarding family history should be a part of the workup of all patients with pituitary adenomas. Genetically induced pituitary tumors often have aggressive behavior in terms of tumor expansion and resistance to different treatment options and often involve a multidisciplinary approach that combines endocrine, neurosurgical, and radiological specialists.
Abstract
Background
The majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients’ age at the moment of recognition.
Objectives
The aim of this retrospective study is to present 4 families in which two closely related people were diagnosed with pituitary adenomas. Probably these cases are clinical manifestations of FIPA.
Material and methods
Eight patients within four families, presenting with anterior pituitary tumors were described. The authors analyzed medical and family histories of the patients, their imaging pictures (pituitary MRI/CT) and hormonal tests.
Results
Family 1.: two sisters with acromegaly in the course of macroadenoma. Family 2.: two brothers with clinically nonsecreting macroadenomas. Family 3.: father and daughter with clinically nonsecreting macroadenomas. Family 4.: young man with acromegaly caused by macroadenoma and a daughter of his mother`s sister with microprolactinoma.
Conclusions.
Familial isolated pituitary adenomas are more common than it was previously thought, therefore, specific questioning regarding family history should be a part of the workup of all patients with pituitary adenomas. Genetically induced pituitary tumors often have aggressive behavior in terms of tumor expansion and resistance to different treatment options and often involve a multidisciplinary approach that combines endocrine, neurosurgical, and radiological specialists.
Get Citation
Keywords
familial isolated pituitary adenoma, FIPA, AIP gene, AIP mutations
About this articleTitle
Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature
Journal
Issue
Article type
Case report
Pages
697-707
Published online
2017-10-12
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1715
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4143
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2017;68(6):697-707.
Keywords
familial isolated pituitary adenoma
FIPA
AIP gene
AIP mutations
Authors
Joanna Elżbieta Malicka
Joanna Świrska
Maria Kurowska
Marta Dudzińska
Jerzy S. Tarach
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