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

摘要： 先天性低促性腺激素性性腺功能减退症（congenital hypogonadotropic hypogonadism，CHH）是以小阴茎、隐睾、第二性征部分发育或不发育等为主要表现，发病机制复杂、临床表现异质性大的一种疾病，不同生命阶段或不同临床表型的治疗侧重和方案有所差异，及时诊断、合理治疗有利于性发育、骨骼和代谢健康，并可能有助于减少CHH的心理影响。

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