open access

Vol 68, No 6 (2017)
Case report
Published online: 2017-10-12
Submitted: 2017-04-02
Accepted: 2017-06-29
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Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature

Joanna Elżbieta Malicka, Joanna Świrska, Maria Kurowska, Marta Dudzińska, Jerzy S. Tarach
DOI: 10.5603/EP.a2017.0058
·
Pubmed: 29022641
·
Endokrynologia Polska 2017;68(6):697-707.

open access

Vol 68, No 6 (2017)
Case report
Published online: 2017-10-12
Submitted: 2017-04-02
Accepted: 2017-06-29

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.
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Keywords

familial isolated pituitary adenoma, FIPA, AIP gene, AIP mutations

About this article
Title

Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature

Journal

Endokrynologia Polska

Issue

Vol 68, No 6 (2017)

Pages

697-707

Published online

2017-10-12

DOI

10.5603/EP.a2017.0058

Pubmed

29022641

Bibliographic record

Endokrynologia Polska 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

References (19)
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