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  • Title: [Endocrine polyadenomatosis of 2a type (MEN 2a). Clinical and genetic study of a family].
    Author: Guillausseau PJ, Guillausseau C, Calmettes C, Feingold N, Demenais F, Sobol H, Gony J, Hors J, Schaison G, Seret D.
    Journal: Ann Endocrinol (Paris); 1988; 49(1):17-21. PubMed ID: 2900619.
    Abstract:
    In a large kindred with multiple endocrine neoplasia type 2a (MEN 2a) (137 members, 5 generations), bilateral thyroid medullary carcinoma was found in all affected members. Pheochromocytoma was present in 59% of the cases, and was responsible at least for 4 out the 5 deaths related to MEN 2a. Hyperparathyroidism was less frequent (41%). Family screening leads to a reduction in age for diagnosis and to an improvement in the prevalence of complete healing after surgery. Linkage between HLA loci and a dominant gene for MEN 2a was investigated in this kindred. Lod scores for recombination fraction were all negative (-0.47 for a recombination fraction of 0.05). These results comfort the lack of linkage between MEN 2a and the HLA complex.
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