ECE2013 Poster Presentations Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) (127 abstracts)
Genetic and clinical characteristics of Serbian FIPA families
Dragana Miljic 1 , Sandra Pekic 1 , Marko Stojanovic 1 , Nadezhda Dzeranova 2 , Judit Denes 2 , Plamena Gabrovska 2 , Marta Korbonits 2 & Vera Popovic 1
1Clinic for Endocrinology, University Clinical Center, Faculty of Medicine, Belgrade University, Belgrade, Serbia; 2Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, EC1M 6BQ, UK.
Introduction: Recently, major advances have been made in genetics of familial acromegaly and isolated pituitary adenoma (FIPA). Mutations in the aryl hydrocarbon interacting protein (AIP) gene have been found in 25–50% of patients with FIPA and familial acromegaly.
Aim of the study: Our goal was to identify and collect data on patients who met the criteria for FIPA.
Patients and methods: The patients were identified between 2008–2012 in the Clinical Center of Serbia, Belgrade. Genetic analysis of AIP gene was performed as part of the International FIPA Consortium project. All patients signed informed consent for genetic testing before entering the study.
Results: In 24 families, 51 subjects (31F/20M) with FIPA were identified. Four GH families (two with gigantism), four PRL, two NFPA, five NFPA-PRL, three GH-PRL, four GH-NFPA, one GH-PRL-NFPA and one PRL-ACTH were registered. Average age at diagnosis for patients with mutations in the AIP gene was 26±23 years compared to 38±12 years for AIP mutation-negative group. Median age at diagnosis was 14 for gigantism, 32 for prolactinoma, 35 for acromegaly and 50 for NFPA. In male patients, 75% were macroadenomas compared to 45% in female patients. So far, 15 families have been screened for AIP mutations. In 13% (two patients with gigantism and one with NFPA), AIP mutations/deletions were registered.
Conclusion: So far, our results indicate that prevalence of AIP gene mutations in Serbian FIPA patients is around 13%. Further genetic testing is needed for AIP gene mutations. Other genetic causes, which may be involved also need to be investigated.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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