Molecular Basis of Primary Hyperparathyroidism

During the past decade and a half, studies of genetic predisposition, parathyroid tumorigenesis, and molecular genetics of familial hyperparathyroid disorders have started to unveil the molecular basis of pHPT. Primary HPT is found in several distinct disorders with autosomal dominant inheritance such as in multiple endocrine neoplasia type 1 (MEN1), MEN2A, the HPT-jaw tumor syndrome (HPT-JT), familial isolated hyperparathyroidism (FIHPT), autosomal dominant mild hyperparathyroidism (ADMH), and neonatal severe HPT (NSHPT).