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Familial Isolated Pituitary Adenoma.

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Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
2016 Nov 11.

Author information

1
Professor of Medicine, University of California, San Francisco, CA
2
Chief of Medicine at the University of Washington Medical Center and Professor and Vice Chair of the Department of Medicine, University of Washington
3
Pediatric Endocrinologist and Associate Research Physician in the Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health
4
Professor of Pediatrics and Endocrinology, Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece
5
Associate Professor of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Ohio State University
6
Professor of Endocrinology and Director of the Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, UK
7
Distinguished Professor of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA; Associate Chief, Endocrinology and Diabetes Division and Director, Endocrine Clinic, West Los Angeles VA Medical Center, Los Angeles, CA
8
Professor of General Medicine-Endocrinology, First Department of Propaedeutic Internal Medicine, Laiko University Hospital, Athens, Greece
9
Head of the Medicover MVZ Oldenburg; affiliated with the Carl von Ossietzky University and the Technical University of Dresden
10
Professor of Medicine and Chief of the Division of Endocrinology, Diabetology and Metabolism, University of Lausanne, Switzerland
11
Professor of Endocrinology and Metabolism, Centre Lead for Endocrinology and Deputy Institute Director, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, England
12
Director of Clinical Research, Hudson Institute of Medical Research; Consultant Endocrinologist, Monash Medical Centre, Melbourne, Australia
13
Dammert Professor of Gerontology and Director, Division of Geriatric Medicine and Director of the Division of Endocrinology, Saint Louis University Medical Center
14
Professor of Pediatrics, Professor of Genetics and Genomic Sciences, and Chief of the Adrenal Steroid Disorders Program, Icahn School of Medicine, Mount Sinai School of Medicine, New York, NY
15
Associate Professor of Medicine and Epidemiology, University of Colorado Anschutz Medical Campus
16
Professor of Medicine, Knight Cardiovascular Institute and the Division of Endocrinology, and Associate Director, Bob and Charlee Moore Institute for Nutrition and Wellness, Oregon Health and Science University, Portland, OR
17
Professor and Chair, Department of Obstetrics and Gynecology, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI
18
Director of the Endocrine/Bone Disease Program, John Wayne Cancer Institute at Saint John’s Health Center, Santa Monica, CA; Clinical Professor of Medicine, UCLA School of Medicine, Los Angeles, CA
19
Director of the Diabetes Care Center and Associate Professor of Medicine, University of Washington Medical Center, Seattle, WA
20
Murray Waitzer Endowed Chair for Diabetes Research, Professor of Medicine/Pathology/Neurobiology, Director of Research and Neuroendocrine Unit Division of Endocrine and Metabolic Disorders, Eastern Virginia Medical School, Norfolk, VA
21
Endowed Chair, Cardiovascular Health and Risk Prevention, Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX
22
Fellow, Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ

Excerpt

Familial Isolated Pituitary Adenoma (FIPA) is a term used to identify a genetic condition with pituitary tumours without other endocrine or other associated abnormalities. FIPA families contribute around 2% of the overall incidence of pituitary tumours. Some FIPA families have been identified to have germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene leading to incomplete penetrance of young-onset, mostly growth hormone or mixed growth hormone/prolactin-secreting, pituitary adenomas. Due to the low penetrance almost half of the AIP mutation positive patients do not have a positive family history. Duplication of the orphan G protein coupled receptor GPR101 gene, located on Xq26.3, leads to high penetrance pituitary hyperplasia or adenoma resulting in infant-onset GH excess, usually with concomitant hyperprolactinaemia, named X-linked acrogigantism (XLAG). The majority of the FIPA families, however, have no known genetic mutation. Their clinical picture includes various types of pituitary adenomas, either homogeneous (all affected family members have the same adenoma type) or heterogeneous (different adenoma types within the same family), presenting with low penetrance and an age of onset not significantly different from patients with sporadic pituitary adenomas. Here we review the clinical features, genetics and screening aspects of FIPA.

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