Research progress on clinical characteristics and molecular genetic mechanism of pseudohypoparathyroidism

Abstract

Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by parathyroid hormone (PTH) resistance, hypocalcemia and hyperphosphatemia. The pathogenesis is mainly related to the decrease of Gsα expression or impaired function caused by the mutation of GNAS gene encoding Gsα protein, which leads to the damage of Gsα/cAMP/PKA signal pathway. The purpose of this study is to explore the clinical features and molecular geneticmechanism of different types of PHP.

Keywords

• pseudohypoparathyroidism|gnas|clinical characteristics|molecular genetic mechanism