ESPE Abstracts (2015) 84 P-3-820

AIP Polymorphism in Familiar Isolated Pituitary Adenomas: Case Report

María Lorena Vialea, Claudia L Hernandezb, María Gabriela Rampib, María Pia Serraa, Verónica Figueroab, Patricia Fainstein Daya & Oscar H Brunettob


aHospital Italiano, Buenos Aires, Argentina; bHospital de Niños Pedro de Elizalde, Buenos Aires, Argentina


Background: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carney’s complex, and comprise about 2–3% of pituitary adenomas. About 20% of FIPA have mutations in the aryl hydrocarbon receptor interacting protein gene (AIP), usually associated with a worse outcome.

Objective and hypotheses: Evaluate the presence of AIP gene mutations in 3 patients with clinical features of FIPA.

Case report: A 13.9 years old boy was referred because of short stature (Height – 2.44 S.D., Puberal Tanner stage G3, PH2, testicular volume 8cc). His mother had been diagnosed with no functional pituitary microadenoma, and his brother, who also had short stature, had a non functional macroadenoma. Workup revealed normal pituitary function and an MRI showed a pituitary image compatible with microadenoma. Due to his familiar background the AIP gene was studied. The promoter and exons 1–6 and intronic flanking regions were amplified by PCR using specific primers. The DNA fragments were sequenced by automatic sequencing.

Results: We found the following polymorphisms (SNPs): c. 468+111 C>T, (intron 3) heterozygous in index patient and mother and homozygous in the brother and c. 990+60G >C heterozygousin 3’ UTR and in the three patients.

Conclusion: The molecular study of the AIP gene in families with pituitary adenomas is necessary, since it is associated with poor outcome. Due to the low frequency of the c. 990+60G >C polymorphism (3%) in healthy population, we suggest studying this polymorphism in the healthy family members.

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