Screening for the multiple endocrine neoplasia syndrome type I. A study of 11 kindreds in The Netherlands

Arch Intern Med. 1989 Dec;149(12):2717-22.

Abstract

Since 1974, a total of 11 families with the multiple endocrine neoplasia syndrome type I (MEN-I), including 52 patients, were identified. Fifteen of these 52 patients died of MEN-I-related complications (mean age, 44 years), most of them in the period before screening was started. In 11 of the 15 patients, death was caused by complicated peptic ulcer disease, in 2 by metastasis of an endocrine pancreatic tumor, and in 2 by renal failure due to hyperparathyroidism. Family screening led to the diagnosis of 43 new endocrine lesions: 21 cases of hyperparathyroidism, 16 endocrine pancreatic tumors, and 6 pituitary tumors. Hyperparathyroidism either was the first manifestation of MEN-I or was diagnosed simultaneously with the other components of the syndrome in 44 (94%) of the 47 patients who underwent full evaluation.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Endocrine System Diseases / diagnosis*
  • Endocrine System Diseases / genetics
  • Female
  • Gastrinoma / diagnosis
  • Gastrinoma / genetics
  • Genetic Testing*
  • Humans
  • Hyperparathyroidism / diagnosis*
  • Hyperparathyroidism / genetics
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia / diagnosis*
  • Multiple Endocrine Neoplasia / genetics
  • Netherlands
  • Pedigree
  • Pituitary Neoplasms / diagnosis*
  • Pituitary Neoplasms / genetics