Sporadic primary hyperparathyroidism in the setting of multiple endocrine neoplasia type 1
B. T. Teh, J. McArdle, V. Parameswaran, R. David, C. Larsson and J. Shepherd
Department of Molecular Medicine, Karolinska Hospital, Sweden.
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant
disease characterized by neoplasia involving the parathyroid glands, the
endocrine pancreas, the duodenum, and the anterior pituitary. The most
commonly involved gland is the parathyroid gland, which has been found to
be abnormal in 90% to 95% of all patients with MEN 1. The disease process
is invariably multiglandular and histologically described as either
hyperplasia or multiple adenoma, although the histological distinction
between the 2 entities remains difficult and controversial. The prevalence
of MEN 1 is approximately 0.002 in 100, whereas the prevalence of sporadic
primary hyperparathyroidism due to a solitary adenoma is estimated to be as
high as 1 in 100.(2.3) We report herein the first case of sporadic primary
hyperparathyroidism in the setting of MEN 1 based on clinical, biochemical,
pathological, and genetic studies.
