Familial isolated pituitary adenoma cases in Hungary
J. Dénes1, G. Kovács1, A. Patócs2, E. Gláz2, E. Mezõsi3, E. Hubina1, L. Kovács1, Z. Görömbey1, S. Czirják4, M. Korbonits5 & M. Góth1
Familial isolated pituitary adenoma (FIPA) occurs if two or more members of a family develop pituitary adenoma with no features of multiple endocrine neoplasia type 1 or Carney complex. FIPA is an autosomal dominant disease with incomplete penetrance. FIPA families can be divided into two distinct groups based on genetic and phenotypic features. In 20% of FIPA families mutations have been identified in the aryl hydrocarbon receptor interacting protein (AIP) gene. The AIP-positive families have a distinct phenotype with younger age at diagnosis and a predominance of somatotroph and lactotroph adenomas. In the AIP-negative group patients present with wider age-range at diagnosis and a more varied adenoma types. No causative gene has been identified.
We have identified four FIPA families in Hungary to date. Family 1 has two adult-onset (77 years and 54 years) acromegaly in the proband and her first cousin, twice removed. The proband responded well to primary medical treatment with somatostatin analogues. In Family 2 acromegaly was diagnosed in the proband at the age of 68 years and prolactinoma in his 34-years-old nephew. Families 3 and 4 have prolactinoma in two brothers and in a grandmothermothergranddaughter triplet. None of these families harbour an AIP mutation. Harvey Cushing in 1910 has described a family with gigantism from Hungary, but their family members, if alive, have not been identified yet.
Current data suggest that familial pituitary adenomas are diagnosed at higher frequency than previously thought. Detailed family history helps to identify candidates for genetic and clinical screening in order to achieve early diagnosis and treatment at an earlier stage of the pituitary tumor.
This abstract was supported by OTKA (Hungarian National Science Foundation) No. K68660.
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 work was supported, however, funding details unavailable.