Genetics and animal models of hypoparathyroidism

Abstract

Hypoparathyroidism is a heterogeneous group of disorders with diverse etiologies. During the past decade, major advances have been made towards unraveling the precise cellular and molecular mechanisms that underlie the pathogenesis of this endocrinopathy. Studies of patients afflicted with the disease and of genetically altered mice with strategically engineered mutations have paved new and exciting avenues of investigation into its causes. While focusing on these discoveries, we review areas of controversy and discuss possible approaches for their resolution.