Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context
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Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context J. A. García-Arnés & I. González-Molero & J. Oriola & N. Mazuecos & R. Luque & J. Castaño & M. A. Arraez Published online: 29 September 2013 # Springer Science+Business Media New York 2013
Abstract The cause of familial isolated pituitary adenomas (FIPA) remains unknown in a high percentage of cases, but the AIP gene plays an important role in the etiology. The aim of the study is to describe a family with FIPA syndrome and the results of genomic studies. A 16-year-old man had a giant prolactinoma resistant to medical treatment with delayed growth and pubertal development. His mother had been previously diagnosed with a nonfunctioning pituitary macroadenoma. Transsphenoidal endoscopic resection was performed and a genetic study revealed a heterozygous mutation in exon 6: 974G>A (p.Arg325Gln). Because the AIP gene is a tumor suppressor gene, we searched for loss of heterozygosity within the AIP gene by amplifying exon 6 from tumor tissue of the patient. In the electropherogram, only the A allele was amplified (hemizygous state), indicating loss of the normal allele. We report a Spanish family with FIPA in whom a mutation in the AIP gene previously unreported in a familiar context was identified.
Introduction Pituitary adenomas are benign tumors of uncertain prevalence and etiology. The most common types are prolactinomas and nonfunctioning pituitary adenomas [1]. Several genes have been associated with the pathogenesis of this entity, and a few genes have been identified that lead to inherited forms of pituitary adenomas [2]. The cause of familial isolated pituitary adenomas (FIPA) remains unknown in many cases, but the AIP gene has an important role in the etiology [3]. Since the first mutation was described in 2006 [3], other mutations have been progressively reported [4–8], but these only account for about 15–30% of cases of FIPA. Therefore, other mutations in AIP gene and other causal genes still remain undiscovered. We report a family with a mutation in the AIP gene not previously described in a family with this syndrome.
Case Report Keywords AIP . Familiar isolated pituitary adenoma . Prolactinoma J. A. García-Arnés : I. González-Molero (*) Department of Endocrinology and Nutrition, Carlos Haya Hospital, Plaza del Hospital Civil s/n, 29010 Malaga, Spain e-mail: [email protected] J. Oriola Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain N. Mazuecos Laboratory Department, Carlos Haya Hospital, Malaga, Spain R. Luque : J. Castaño Department of Cell Biology, Physiology, and Immunology, Reina Sofia Hospital/University of Cordoba, Cordoba, Spain M. A. Arraez Neurosurgery Department, Carlos Haya Hospital, Malaga, Spain
A 16-year-old man was evaluated in 2009 because of delayed growth and pubertal development. His pregnancy and delivery were normal (birth weight 3.150 kg, height 50 cm), but at the age of 7 years, he began to experience headaches, nausea, and vomiti
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