Research progress on clinical characteristics and molecular genetic mechanism of pseudohypoparathyroidism

Abstract

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.

Key words: pseudohypoparathyroidism, GNAS, clinical characteristics, molecular genetic mechanism

CLC Number:

R582+.2

ZHAO Ping-ping, LIU Jing-fang. Research progress on clinical characteristics and molecular genetic mechanism of pseudohypoparathyroidism[J]. Basic & Clinical Medicine, 2021, 41(4): 584-588.

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