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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 11q13¹

Endocrinology Laboratory and Department of Medicine, Memorial Health Care (J.L.S., J.A.C., J.H.O.), and the Department of Medicine, University of Massachusetts Medical School (J.L.S., N.A.), Worcester, Massachusetts 01605; Faulkner Hospital and Tufts University School of Medicine (M.R.W.), Boston, Massachusetts 02130; the Department of Molecular Medicine, Karolinska Hospital (C.L., B.T.T.), Stockholm, Sweden; the Center for Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School (G.B.), Chicago, Illinois 60611; the Department of Pediatrics, Stanford University School of Medicine (R.L.H.), Stanford, California 94305; the Department of Medicine, University of Virginia Health Sciences Center (M.L.H.), Charlottesville, Virginia 22908; and the Molecular Neuro-Oncology Laboratory, Massachusetts General Hospital and Harvard Medical School (B.S.), Boston, Massachusetts 02114

Address all correspondence and requests for reprints to: John L. Stock, M.D., Memorial Health Care, 119 Belmont Street, Worcester, Massachusetts 01605.

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.

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