[Endocrine polyadenomatosis of 2a type (MEN 2a). Clinical and genetic study of a family]

Ann Endocrinol (Paris). 1988;49(1):17-21.
[Article in French]

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.

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Adrenal Gland Neoplasms / genetics*
  • Adult
  • Aged
  • Carcinoma / genetics*
  • Child
  • Female
  • Genes, Dominant
  • HLA Antigens / genetics
  • Humans
  • Hyperparathyroidism / genetics
  • Lod Score
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia / genetics*
  • Pedigree
  • Pheochromocytoma / genetics*
  • Thyroid Neoplasms / genetics*

Substances

  • HLA Antigens