Background: Familiar isolated pituitary adenomas (FIPA) encompasses the familiar occurrence of isolated pituitary adenomas outside the setting of syndromic conditions such as MEN1 and Carneys complex, and comprise about 23% 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 16 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.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology