中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2013年
1期
88-90
,共3页
特发性低促性腺激素性性腺功能减退症%TAC3/TACR3基因突变%神经激肽B%GnRH脉冲式释放
特髮性低促性腺激素性性腺功能減退癥%TAC3/TACR3基因突變%神經激肽B%GnRH脈遲式釋放
특발성저촉성선격소성성선공능감퇴증%TAC3/TACR3기인돌변%신경격태B%GnRH맥충식석방
Idiopathic hypogonadotropic hypogonadism%TAC3/TACR3 gene mutation%Neurokinin B%Pulsatile GnRH secretion
特发性低促性腺激素性性腺功能减退症(IHH)是由于促性腺激素释放激素(GnRH)的脉冲式分泌功能受损致使青春期无法启动或延迟,患者性腺功能减退的一种疾病.在IHH患者中发现TAC3/TACR3基因突变揭示了神经激肽B(NKB)信号转导通路参与调控GnRH脉冲式释放.本文综述了NKB信号转导通路参与调控GnRH脉冲式释放、IHH患者TAC3/TACR3基因突变及其所致IHH的表现型和治疗等方面的研究进展.
特髮性低促性腺激素性性腺功能減退癥(IHH)是由于促性腺激素釋放激素(GnRH)的脈遲式分泌功能受損緻使青春期無法啟動或延遲,患者性腺功能減退的一種疾病.在IHH患者中髮現TAC3/TACR3基因突變揭示瞭神經激肽B(NKB)信號轉導通路參與調控GnRH脈遲式釋放.本文綜述瞭NKB信號轉導通路參與調控GnRH脈遲式釋放、IHH患者TAC3/TACR3基因突變及其所緻IHH的錶現型和治療等方麵的研究進展.
특발성저촉성선격소성성선공능감퇴증(IHH)시유우촉성선격소석방격소(GnRH)적맥충식분비공능수손치사청춘기무법계동혹연지,환자성선공능감퇴적일충질병.재IHH환자중발현TAC3/TACR3기인돌변게시료신경격태B(NKB)신호전도통로삼여조공GnRH맥충식석방.본문종술료NKB신호전도통로삼여조공GnRH맥충식석방、IHH환자TAC3/TACR3기인돌변급기소치IHH적표현형화치료등방면적연구진전.
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by delayed or absent puberty and lowered sexual function as a result of impaired pulsatile gonadotropin-realeasing hormone (GnRH) secretion.Identification of TAC3/TACR3 mutations as the culprits of IHH revealed that neurokinin B (NKB) signaling pathway was involved in the regulation of pulsatile GnRH secretion.This review focuses on the involvement of NKB signaling in pulsatile GnRH release,the discovery of TAC3/TACR3 mutations and the phenotypes,and treatment of patients who carry TAC3 or/and TACR3 mutations.
