关键词: 家族性男性性早熟, 病因, 治疗

Abstract: Familial male-limited precocious puberty (FMPP) is mainly caused by activating mutations of luteinizing hormone/choriogonadotropin receptor (LHCGR) gene.Many mutations have been identified，but the relationship between genotypes and phenotypes is not completely clear.The main therapeutic purpose of FMPP is to inhibit pubertal development，decrease the excessively high level of sexual hormone and delay the early closure of epiphysis in order to improve the adult height.There are several major categories of clinical drugs for FMPP，including gonadal steroidogenesis inhibitors，antiestrogen，cytochrome P450 inhibitors，and aromatase inhibitors.FMPP is a rare disease.Although there are some reports on single or combined clinical applications of the above drugs and their adverse reactions，multi-centered and large-sample systematic studies are still in need.

Key words:

Familial male-limited precocious puberty, Pathogenesis, Therapeutics