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Endocrine Abstracts (2012) 29 P1363

ICEECE2012 Poster Presentations Pituitary Clinical (183 abstracts)

Familial isolated pituitary adenoma: review of four families

S. Belo 1, , J. Mesquita 1, , C. Nogueira 1, , A. Magalhães 1, , M. Basto 2 , J. Pereira 1 & D. Carvalho 1,

1Centro Hospitalar S. João, Porto, Portugal; 2Universidade do Porto, Porto, Portugal.

Introduction: Pituitary adenomas are frequent brain tumors, with prevalence of about 1:1000. Most occur sporadically. The familial forms represent 5% of cases. These can be found associated with other endocrine neoplasia (MEN 1, Carney complex, MEN 4) or as a clinical isolated entity – FIPA. This is characterized by the presence of pituitary tumors in two or more family members, in the absence of features of other endocrine syndromes. AIP gene mutation, which may or may not be present, has been linked to FIPA. A review of four FIPA families was made. The Table 1 summarizes their main characteristics.

Conclusion: FIPA are characterized by the predominance of prolactinomas and somatotrophynomas (GH; 75%). They can be divided into families of homogeneous phenotype (only one tumor type, ex. isolated familial somatotrophynomas (IFS)) or heterogeneous (all types can occur, including non-functioning, but as a rule, at least one prolactinoma or GH producing tumor). This is a heterogeneous entity in which virtually all phenotypic combinations are possible. FIPA patients, especially with AIP gene mutation (positive in 15% of the heterogeneous phenotype and 50% of the IFS), are younger, have larger, more aggressive and resistant to therapy tumors.

Table 1
FamilyNumber studiedNumber affectedFamily linkAge of diagnosisGenderTumor typeTherapyAIP
182Siblings40ACTH, PRLSurgeryNG
2 182Siblings31PRLBromocriptineNP
3242Mother and daughter28GH, PRLSurgery, RTNP
♀, female; ♂, male; PRL, prolactin; NFA, non-functioning pituitary adenoma; NG, negative; ND, non-determined; RT, radiotherapy.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

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