AIP Mutation Results in Patients with Acromegaly

Aryl-hydrocarbon receptor interacting protein (AIP) gene mutation is one of the causes of acromegaly that starts at a young age and shows familial transition. In patients with this mutation, the disease is more aggressive and invasive. The tumor reaches large sizes with rapid growth. Patients are diagnosed at earlier ages and unfortunately are characterized by treatment resistance. In this study, we retrospectively evaluated the frequency of AIP gene mutation in patients with acromegaly who were younger than 40 years and were followed up in Ege University Medical Faculty Endocrinology and Metabolism Disorders Outpatient Clinic. Of the 26 patients whose data were available, 12 (46.2%) were female and 14 (53.8%) were male. The mean age at the time of diagnosis was 33 ± 5 years. Nine (33.3%) cases were drug-free in-follow up after operation. At the time of diagnosis, macroadenoma was detected in 23 (85.2%) patients and microadenoma was detected in 3 (11.1%) patients. Twelve (44.4%) patients had cavernous sinus invasion and 5 (18.5%) patients had optic compression. None of the patients had AIP mutations. AIP mutation was found to be negative in all of our patients despite some of them were familial acromegaly, some of them had recurrence, some of them were resistant to treatment and especially some of them were diagnosed when they were younger than 30 years old. This result suggests that there may be new and undefined mutations. The small size of our patient group is the biggest handicap of our study. Increasing our knowledge about the genetics of pituitary adenomas will guide our comments on the structure, behavior and prognosis of adenomas