Update of diagnosis and treatment for congenital hypogonadotropic hypogonadism / 国际儿科学杂志

ABSTRACT

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.