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JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Isolated familial somatotropinoma.
Pituitary 2004
The great majority of growth hormone (GH)-secreting pituitary tumors are sporadic, though a few occur with a familial aggregation, either as a component of multiple endocrine neoplasia, type 1 (MEN1) or Carney Complex, or when unassociated with other tumors, as isolated familial somatotropinomas (IFS). This report reviews the clinical and genetic information available from the 46 families reported to date with the latter syndrome. In contrast to sporadic tumors, GH-secreting tumors in IFS occur at an earlier age, especially when all affected family members are from a single generation. The IFS gene is believed to be a tumor suppressor gene, based on the presence of loss of heterozygosity. Although the gene still remains to be identified there is strong evidence for linkage to a locus of less than 10 Mb on chromosome 11q13.1-13.3.
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