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
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
UMass Chan Affiliations
Department of Medicine, Division of Cardiovascular MedicineEndocrinology Laboratory
Document Type
Journal ArticlePublication Date
1997-02-01Keywords
AcromegalyAged
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
Metadata
Show full item recordAbstract
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.82.2.3730Permanent Link to this Item
http://hdl.handle.net/20.500.14038/42658PubMed ID
9024241Related Resources
ae974a485f413a2113503eed53cd6c53
10.1210/jcem.82.2.3730