[Endocrine polyadenomatosis of 2a type (MEN 2a). Clinical and genetic study of a family].
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.
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D000368:Aged; D002277:Carcinoma / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
D006680:HLA Antigens
Polyadénomatose endocrinienne de type 2a (MEN 2a). Etude clinique et génétique d'une famille (GETC).