先天性低促性腺激素性性腺功能减退症的诊治进展

Update of diagnosis and treatment for congenital hypogonadotropic hypogonadism

先天性低促性腺激素性性腺功能减退症是因促性激素释放激素或促性腺激素产生不足、分泌障碍或活性缺失导致的疾病，其主要特征为性征缺失和不育。目前已发现多种致病基因与之相关，同时环境内分泌干扰物等因素也参与、促进该病形成。该病常见的疾病类型有Kallmann综合征、Prader-Willi综合征、多垂体激素缺乏症等。新生儿期和婴儿早期是该病诊断的黄金时期。对于青春期的患者，临床医师需注意将其与体质性青春期生长发育延迟相鉴别。在治疗方式上，需要根据患者的年龄、性别及对生育能力的要求进行选择。治疗的方法有性激素替代治疗、促性腺激素治疗和促性腺激素释放激素泵治疗。尽早诊断与治疗可诱导并维持第二性征，诱导男性精子形成和女性排卵，减少因该病导致的心理问题。该文对该病的诊断和治疗进展作出综述。

Congenital hypogonadotropic hypogonadism, mainly characterized by absence of puberty and infertility,is a disorder due to deficient production, secretion or activity of gonadotropin-releasing hormone or gonadotropins. Multiple causative genes have been found till now, and other factors like environmental endocrine disruptors also participate in promoting the disease at the same time. Common diseases in this category are Kall- mann syndrome, Prader-Willi syndrome and multiple pituitary hormone deficiency. Neonatal period and early in- fancy are golden time for diagnosis of the disorder. Constitutional growth delay of puberty should be considered in the differential diagnosis for adolescent patients. Therapeutic schedule should be selected according to age, gender and demand for fertility. The treatment can be sexual hormone replacement, gonadotropin therapy and pul- satile pump gonadotropin-releasing hormone. A timely diagnosis and treatment can induce and maintain second sexual characteristics, enhance the male spermatogenesis and female ovulation and reduce psychological problems caused by the disorder. This article is to review the update in diagnosis and treatment of the disorder.