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Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context

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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.

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Conflict of Interest

The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

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This research did not receive any specific grant from any funding agency in the public, commercial, or not-for-profit sector.

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Authors and Affiliations

  1. Department of Endocrinology and Nutrition, Carlos Haya Hospital, Plaza del Hospital Civil s/n, 29010, Malaga, Spain

    J. A. García-Arnés & I. González-Molero

  2. Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain

    J. Oriola

  3. Laboratory Department, Carlos Haya Hospital, Malaga, Spain

    N. Mazuecos

  4. Department of Cell Biology, Physiology, and Immunology, Reina Sofia Hospital/University of Cordoba, Cordoba, Spain

    R. Luque & J. Castaño

  5. Neurosurgery Department, Carlos Haya Hospital, Malaga, Spain

    M. A. Arraez

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  1. J. A. García-Arnés
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  2. I. González-Molero
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  3. J. Oriola
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  4. N. Mazuecos
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  5. R. Luque
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  6. J. Castaño
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  7. M. A. Arraez
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Correspondence to I. González-Molero.

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García-Arnés, J.A., González-Molero, I., Oriola, J. et al. Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context. Endocr Pathol 24, 234–238 (2013). https://doi.org/10.1007/s12022-013-9268-5

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  • DOI: https://doi.org/10.1007/s12022-013-9268-5

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