关键词: 先天性低促性腺激素性性腺发育不良, 下丘脑-垂体-性腺轴, 脉冲式促性腺激素释放激素治疗, 重组人促卵泡激素 

Abstract: Congenital hypogonadotropic hypogonadism（CHH） is primarily characterized by manifestations such as micropenis，cryptorchidism，and partial or complete lack of development of secondary sexual characteristics. The disease has a complex pathogenesis and exhibits a wide range of clinical phenotypes. Treatment focus and protocols vary across different stages of life and clinical phenotypes. Timely diagnosis and appropriate treatment are beneficial to sexual development，bone and metabolic health，and may also help to mitigate some of the psychological impacts of CHH.

Key words: congenitalhypogonadotropic hypogonadism, hypothalamic-pituitary-gonadal axis, pulsatile gonadotropin-releasing hormone therapy（pulsatile GnRH therapy）, recombinant human follicle-stimulating hormone