单一性低促性腺激素型性腺功能减退症的分子遗传学  

Molecular genetics of isolated hypogonadotropic hypogonadism

作　　者：刘明隽[1] 李小英[1] 

机构地区：[1]上海市内分泌代谢病临床医学中心,上海市内分泌代谢病研究所,上海交通大学医学院附属瑞金医院内分泌代谢科,200025

出　　处：《国际内分泌代谢杂志》2011年第3期209-212,共4页International Journal of Endocrinology and Metabolism

摘　　要：促性腺激素低下和性腺发育障碍伴或不伴嗅觉异常是单一性低促性腺激素型性腺功能减退症（IHH）的主要临床特征.近些年,随着基因组学和分子生物学的发展,发现了一些导致下丘脑-垂体-性腺轴功能减退新的基因缺陷,如GnRH、GnRHR、GPR54、PROK2、PROKR2、TAC和TACR基因等,影响下丘脑促性腺激素释放激素（GnRH）的合成、分泌和作用.这些基因缺陷的发现有助于进一步了解GnRH分泌的调节机制和阐明IHH的发生机制.Isolated hypogonadotropic hypogonadism（IHH） is characterized by low serum gonadotro-pins and hypogonadism with or without olfactory defects,and caused mainly by the genetic defects involving in the development and function of the CnRH-secreting neurons. Recently, a number of novel gene mutations including GnRH,GnRHR,GPR54,PROK2,PROKR2,TAC and TACR,are reported to result in dysfunction of hypothalamic-pituitary-gonadal axis as defects of GnRH synthesis,secretion and action. The identification of these genetic defects helps to illustrate the regulatory mechanism of GnRH secretion and to understand the pathogenesis of IHH.

关 键 词：单一性低促性腺激素型性腺功能减退症 基因突变 性发育障碍 

分 类 号：R698[医药卫生—泌尿科学]