First Description of Parathyroid Disease in Multiple Endocrine Neoplasia 2A Syndrome

Abstract

Context-Hyperparathyroidism and/or parathyroid hyperplasia, medullary thyroid carcinoma (MTC) and pheochromocytomas compose the hallmarks of the multiple endocrine neoplasia type 2A (MEN 2A) syndrome. Revisiting a report in 1939 of a patient with hyperparathyroidism and parathyroid hyperplasia led to a search for evidence of MEN 2A.Evidence Acquisition-From medical records and discussion with family members, longitudinal follow-up of the patient and her descendants was obtained. Molecular diagnostics were integrated in the care of subsequent generations. The literature on hyperparathyroidism and MEN 2A was reviewed.Results-Children of the proband exhibited all components of MEN 2A and the RET mutation of 634 TGC>zCGC. The pedigree was typical for this mutation. Papers on anthropologic studies demonstrate skeletal evidence of hyperparathyroidism in humans centuries ago. Conclusions-The

Primary hyperparathyroidism

“…Among the two variants, MEN2A is responsible for up to 80% of MEN2 syndromes. MEN2A syndrome is composed of hyperparathyroidism, hyperplasia of parathyroids, pheochromocytomas and medullary carcinoma [23].…”