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    A kindred with a variant of multiple endocrine neoplasia type 1 demonstrating frequent expression of pituitary tumors but not linked to the multiple endocrine neoplasia type 1 locus at chromosome region 11q13

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    Authors
    Stock, John L.
    Warth, Maria R.
    Teh, Bin Tean
    Coderre, James A.
    Overdorf, Judith H.
    Baumann, Gerhard
    Hintz, Raymond L.
    Hartman, Mark L.
    Seizinger, Bernd R.
    Larsson, Catharina
    Aronin, Neil
    Show allShow less
    UMass Chan Affiliations
    Department of Medicine, Division of Cardiovascular Medicine
    Endocrinology Laboratory
    Document Type
    Journal Article
    Publication Date
    1997-02-01
    Keywords
    Acromegaly
    Aged
    Aged, 80 and over
    *Chromosome Mapping
    *Chromosomes, Human, Pair 11
    Female
    Humans
    Linkage (Genetics)
    Male
    Middle Aged
    Multiple Endocrine Neoplasia Type 1
    Pedigree
    Pituitary Neoplasms
    Life Sciences
    Medicine and Health Sciences
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    Link to Full Text
    https://doi.org/10.1210/jcem.82.2.3730
    Abstract
    Acromegaly is uncommon in kindreds with multiple endocrine neoplasia type 1 (MEN1), whereas primary hyperparathyroidism (PHP) has the highest penetrance of any endocrinopathy. We report an unusual MEN1 kindred with frequent expression of pituitary tumors and a low penetrance of PHP. Four members were found to have disease: PHP in generation I, acromegaly (2 cases) in generation II, and hyperprolactinemia associated with a pituitary tumor in generation III. There was no evidence for PHP in 1 patient with acromegaly (age 60 yr), the patient with hyperprolactinemia and the pituitary tumor (age 22 yr), and 1 asymptomatic obligate carrier (age 50 yr). Screening of 26 members revealed the possible diagnosis of PHP in 1 family member in generation II and possible early acromegaly in 2 members of generation III with elevated serum concentrations of insulin-like growth factor I and insulin-like growth factor-binding protein-3 but normal patterns of pulsatile GH release. Although the predisposing genetic defect in typical MEN1 families has previously been mapped to chromosome location 11q13 without evidence of heterogeneity among the 87 families analyzed, linkage of disease in this family to the MEN1 region is unlikely based on haplotype analysis. Localization of the gene(s) responsible for disease in such atypical families may aid in the understanding of the pathogenesis of MEN1. In addition, further study of the earliest changes in patterns of pulsatile GH release in familial acromegaly may allow more insight into the pathogenesis and natural history of this disease.
    Source

    J Clin Endocrinol Metab. 1997 Feb;82(2):486-92.

    DOI
    10.1210/jcem.82.2.3730
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/42658
    PubMed ID
    9024241
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    Link to Article in PubMed

    ae974a485f413a2113503eed53cd6c53
    10.1210/jcem.82.2.3730
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