假性甲状旁腺功能减退症(Pseudohypoparathyroidism,PHP)是一种罕见的先天性遗传基因缺陷病,具有临床表现多样性和遗传异质性等特性。研究发现PHP的发病与GNAS基因启动子、编码Gsα的外显子突变及GNAS基因印记缺陷密切相关。本文就PHP的分型、发病机制、存在的问题及今后的研究方向,特别是各型在分子遗传学上的研究进展进行了详尽的介绍。 Pseudohypoparathyroidism (Pseudohypoparathyroidism, PHP) is a rare congenital genetic defect, with clinical manifestations of diversity and genetic heterogeneity and other characteristics. The study found that the incidence of PHP and GNAS gene promoter, encoding exon mutations Gsα and GNAS gene imprinting defects are closely related. This article describes the classification of PHP, pathogenesis, existing problems and future research directions, especially the various types of molecular genetics in the progress of a detailed introduction.